“Genetic disorders occur due to alterations in either gene, DNA or chromosome which can cause serious health or medical problems.”


 Genetic disorders are congenital, commonly, however not in all cases. Some genetic disorders also occur after birth or at any stage of life. 

The vast majority of genetic disorders are incurable and have a complete phenotypic profile. Using state of the art genetic technologies, genetic abnormalities can screen or diagnose. Those are karyotyping, polymerase chain reaction, FISH, DNA microarray, DNA sequencing and methylation assays. 

The abnormality occurs mainly due to mutations- mutations in either gene or chromosome. 

“Any alteration (deletion, addition, duplication or inversion) occurs in a gene or DNA sequence is known as gene mutation.” 

On the other side. 

“Any alteration or variation (deletion, addition, duplication, invention or change in number) happens in a chromosome is known as chromosomal mutation.”  

Besides these major two types of categories, some other type of mutations also occurs in a genome. 

For instance, triplet repeats expansion. 

In the present condition, some of the triplet codons abnormally expand over its normal range. For example, CAG repeats in case of Huntington’s disease

Change in gene expression but not in a gene sequence also causes some serious genetic problems categorised in epigenetic alterations. 

Simply, we can say, in the epigenetic alteration, the order and the sequence of a gene remains normal but it’s expression changes abnormally in a particular cell or tissue. 

Further, the gene or chromosomal mutations categorised into different categorised. See the image below, 

Chromosomal alterations:

Structural chromosomal alterations: the structure of chromosome changes- deletion, duplication, translocation or inversion of chromosomal parts. 

Numerical chromosomal alterations: the number of chromosomes changes- trisomy, disomy or tetrasomy. For example trisomy 21. 

Read more: 

  1. What is the point mutation?
  2. SNP- single nucleotide polymorphism

Gene mutation: 

Single gene disorder: only one particular gene either autosomal or sex-linked gene involves in genetic abnormality. 

Notably, single-gene disorders follow a specific inheritance pattern. 

Polygenic disorder- more than a single gene are involved in genetic abnormality. Notably, the inheritance pattern of polygenic disorders is not well determined. It is also known as multigenic or complex genetic disorders. 

You can read our dedicated article on mutation here: different types of genetic mutations

Further, we also had covered an amazing article on different types of inheritance patterns such as autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive. 

Thus we will not discuss it here again. For more detail, go and read the article first: Different types of genetic inheritance.

Here in the present article, we will give you an overview of some of the common types of genetic disorders. Although, it is just a broad overview, still, you can understand it properly. 

List of genetic disorders


Alpha thalassemia:

Alpha thalassemia is a blood disorder often known as haemoglobinopathies.  

Type: Single gene disorder

Gene: HBA1 and HBA2 

Inheritance: Autosomal recessive inheritance 

Cause: a mutation in one of the genes given above. Deletion on the p arm of chromosome 16 is most common. 

Symptoms: Anemia, Delayed growth, Hypertension, Enlarged spleen and abnormal haemoglobins. 

Prevalence: The present genetic condition is more prevalent in India and central Asia.

Beta- thalassemia: 

Like the alpha-thalassemia, the present genetic condition is also a common type of haemoglobinopathies. 

Type: Single gene disorder.

Gene: HBB gene. 

Inheritance: Autosomal recessive inheritance. 

Causes: mutations in the HBB gene. 

Symptoms: Anaemia, enlarged spleen, liver cirrhosis and fibrosis and gallstones. 

Prevalence: 1 in 100,000 globally. 

Haemophilia: 

Prolonged internal bleeding commonly found in the patient with the present conditions. 

Type: Single gene disorder.

Gene: F8 gene. 

Inheritance: both haemophilia A and B inherited as X-linked recessive pattern. 

Causes: mutation/ mutations in the F8 gene of the X chromosome.

Symptoms: prolonged bleeding, blood in urine and stool, deep bruises, frequent nose bleeding, pain in joints, bleeding gums.

Prevalence: 1 in 5000 male to 1 in 20,000 female worldwide  

Sickle cell anaemia: 

The sickle cell anaemia is a type of blood disorders most commonly observed worldwide. The HbS allele was originally evolved to protect against the malaria parasite. 

Type: single gene disorder. 

Gene: HBB gene. 

Inheritance: autosomal recessive inheritance.  

Causes: a mutation in the HBB gene. 

Symptoms: weight loss, anaemia and sickle-shaped RBCs. 

Prevalence: 1 in 16,300 Hispanic- American.

Read our article on Sickle cell anaemia: Sickle Cell Anaemia: Definition, Cause, Genetics, Trait, Symptoms and Diagnosis. 

Fanconi anaemia:

The present genetic condition is often known as inherited bone marrow failure syndrome.

Type: polygenic disorder

Gene: Although more than 15 genes are involved in it. FANCA, FANCC, FANCG are the three most common genes. 

Inheritance: Autosomal recessive and X-linked recessive for some genes. 

Symptoms: Bone marrow failure or defects, risk of cancer, organ defects, short stature, hypogenitalism, mental retardation and microphthalmia (sometimes). 

Prevalence: 1 in 160,000 worldwide 

Cystic fibrosis: 

Thick mucus observed due to mutations in the CFTR gene, more common symptoms is related to lung and breathing problems.  

Type: single gene disorder   

Gene: CFTR gene 

Inheritance: Autosomal recessive 

Causes: Mutations in the CFTR gene 

Symptoms: Thick and mucoid mucus, respiratory bronchiectasis, pancreatic insufficient and high level of chloride in sweat. 

Prevalence: 1 in 2,500 to 3,500 in white population, 1 in 31,000 asian american and 1 in 17,000 african americans. 

Read our article on cystic fibrosis: How is cystic fibrosis inherited?

Huntington’s disease: 

The present genetic condition is related to the brain and neuro-system hence called as a progressive neurodegenerative disorder. 

Type: single gene disorder 

Gene: HTT gene

Inheritance: Autosomal dominant inheritance

Causes: Abnormal expansion of CAG triplet repeat is the reason for Huntington’s disease. More than 35 CAG repeat cause severe abnormalities. 

Symptoms: chorea, involuntary jerky movements, dystonia, slower and abnormal eye movements and balancing problem. 

Prevalence: the present genetic condition is more common in European people. It affects 3 to 7 in 100,000 European people. 

Duchenne muscular dystrophy: 

The present genetic disorder is categorised into progressive muscular dystrophy that majorly affects male individuals. 

Type: Single gene disorder 

Gene: DMD 

Inheritance: X-linked recessive inheritance

Causes: Mutations in the DMD gene 

Symptoms: uncontrolled muscular movements, trouble in running, jumping and walking, large calf muscles, muscle pain and stiffness and learning disabilities. 

Prevalence: 1 in 3,500 male. It is estimated that 250,000 individuals from the USA are living with the DMD. 

Becker muscular dystrophy: 

The BMD is another type of muscular dystrophy commonly observed with progressive muscle weakness. 

Type: single gene disorder 

Gene: DMD

Inheritance: X-linked recessive inheritance 

Cause: a mutation in the DMD gene

Symptoms: shoulder, hips, thighs and pelvic muscle weakness, waddling gait, muscle cramps, difficulty in walking and jumping (like DMD), loss of muscle mass and heart-breathing problems. 

Prevalence: 1 in 18,000 to 1 in 30,000 males worldwide. 

Neurofibromatosis type 1:

Neurofibromatosis type 1 is a genetic disorder of uncontrolled tumor formation on face and other body parts. 

Type: Single gene disorder

Gene: NF1

Inheritance: Autosomal dominant inheritance 

Cause: Mutation in the NF1 gene forms abnormal neurofibromin protein. It losses its tumor suppressor power.

Symptoms: uncontrolled tumors, neurofibromas (small bumps) under the skin, bone deformities, optic glioma, cafe au lait spots and several learning disabilities. 

Prevalence: The present condition occurs 1 in 4,000 people worldwide. 

Neurofibromatosis type 2: 

The present genetic disorder is characterised as the presence of acoustic neuromas or vestibular schwannomas. It’s a type of noncancerous tumors.   

Type: Single gene disorder

Gene: NF2

Inheritance: Autosomal dominant inheritance 

Cause: The NF2 gene forms merlin protein- a type of tumour suppressor protein. It is mainly present in Schwann cells. Due to the mutation, it losses it’s tumour suppressor power. 

Symptoms: Presence of acoustic neuromas, problems in balancing and hearing, ringing in ears, vision impairments, seizure and glaucoma of neurons. 

Prevalence: It is prevalent 1 in 33, 000 people worldwide. 

Down syndrome:

Down syndrome is one of the most common types of chromosomal disabilities associated with intellectual and developmental disabilities.  

Type: Chromosomal disorder- trisomy 21

Inheritance: No specific inheritance pattern

Cause: An event called nondisjunction causes an extra copy of chromosome number 21. 

Symptoms: Short and thick neck back, weak muscle tones, flattened face and nose, absence of nasal bone and small facial features like ear, nose and mouth. Intellectual and mental disabilities are also very common. 

Prevalence: the global prevalence of Down syndrome is 1 in 800 newborns. 

Read our article: Trisomy 21 (Down Syndrome): Definition, Causes, Symptoms, Pictures and Diagnosis.

Patau syndrome: 

Yet another type of chromosomal abnormality associated with a developmental and intellectual disability is known as Patau syndrome. 

Type: chromosomal disorder- trisomy 13 

Inheritance: No specific inheritance pattern 

Cause: Likewise the trisomy 21, the event of nondisjunction results in an extra copy of chromosome number 13 in the fetus. 

Symptoms: Intellectual and developmental disabilities, cleft palate, microphthalmia and severe heart and brain defects. 

Prevalence: 1 in 16,000 newborns worldwide.

Read our article on present genetic condition: Trisomy 13(Patau Syndrome)- Definition, Causes, Symptoms, Life Expectancy And Diagnosis.

Edward syndrome:

Type: Numerical chromosomal abnormality 

Type: Chromosomal disorder 

Inheritance: No specific inheritance pattern 

Cause: Trisomy of 18. Due to the event called nondisjunction results in an extra copy of chromosome 18. 

Symptoms: Abnormal head shape, small jaw, low birth weight, low-set ears, cleft palate and lips and other developmental abnormalities.

Prevalence: 1 in 5000 live birth.

Read our article on present genetic condition: Trisomy 18- Definition, Symptoms, Pictures, Diagnosis And Life Expectancy

Xeroderma pigmentosum: 

An abnormal genetic condition of extreme sensitivity to the UV rays of sunlight. 

Type: Polygenic or multifactorial 

Gene: Genes involved in the DNA repair pathway 

Inheritance: Autosomal recessive inheritance 

Cause: Non-functioning of DNA repair pathway

Symptoms: Dry skin, skin pigmentation and skin cancer. 

Prevalence: Although the present condition is more common in Japan and Africa, the prevalence of XP is 1 in 1 million in the united states and Europe. 

Breast cancer: 

Breast cancer is a genetic condition in which uncontrolled tumors developed in certain cells of the breast. 

Type: polygenic disorder 

Gene: BRCA1 and BRCA2 mostly 

Inheritance: Autosomal dominant inheritance for BRCA1 and BRCA2 gene.

Cause: Mutations in BRCA1 or BRCA2 and/or other genes involved in cell division and DNA repair. This results in uncontrolled cell division, especially, in the breast cells. 

Symptoms: A tumor in the breast, lump or mass, swelling, nipple pain and retraction, nipple discharge and skin irritation. 

Prevalence: breast cancer is one of the common genetic abnormalities observed in women. About 1 in 8 American women will have invasive breast cancer in her lifetime.  

Turner syndrome:

Turner syndrome is a type of chromosomal aberration that occurs due to the absence of one X chromosome in females. 

Type: Numerical chromosomal abnormality 

Chromosome: X  

Inheritance: non-inherited 

Cause: Missing one X chromosome in females. 

Symptoms: short status, webbed neck, lymphedema, low hairline at the back of the neck, swelling of hands and feet, skeletal and kidney problem.

Prevalence: 1 in 2,500 girls worldwide. 

 Klinefelter syndrome: 

Klinefelter syndrome occurs due to an extra copy of chromosome X in males. 

Type: Numerical chromosomal aberration

Chromosome: X 

Inheritance: no specific inheritance pattern 

Cause: An extra copy of chromosome X in male.

Symptoms: Taller than average stature, delayed or absence of puberty, small and firm testicles, enlarged breast tissues and longer legs. 

Prevalence: 1 in 650 newborn boys worldwide. 

Cri-du-chat syndrome: 

The cri-du-chat syndrome is a type of structural chromosomal alteration also known as cat’s cry or 5p minus syndrome. 

Type: Structural chromosomal alteration 

Chromosome: 5 

Inheritance: No specific inheritance pattern

Cause: Due to the deletion of the p arm of chromosome 5 results in present condition.

Symptoms: High-pitched cat-like cry, delayed development, several intellectual disabilities, weak muscle tone, microcephaly and low birth weight. 

Prevalence: 1 in 20,000 to 1 in 50,000 newborns worldwide. 

Philadelphia syndrome: 

Philadelphia syndrome is categorised as structural chromosomal aberration causes chronic myeloid leukaemia. 

Type: Structural chromosomal abnormality- chromosomal translocation

Gene: BCR-ABL1 gene fusion

Inheritance: No specific inheritance pattern. Occurs after conception. 

Cause: translocation between chromosome 9 and 22

Symptoms: chronic myelogenous leukaemia. 

Prevalence: 1 in 555 individuals worldwide.

Read our article on present genetic condition: Philadelphia Chromosome, BCR-ABL1 Gene Fusion And Chronic Myeloid Leukemia.

Prader-Willi syndrome:

The present condition occurs due to loss of function mutations in a group of genes. 

Type: polygenic 

Gene: Genes located on chromosome 15

Inheritance: No specific inheritance pattern or uniparental disomy 

Cause: Deletion of genes located on chromosome 15 

Symptoms: Delayed development, feeding difficulties, poor growth or retardation and hypotonia. 

Prevalence: 1 in 10,000 to 30,000

 Fragile- X syndrome: 

Fragile X syndrome is a type of triplet repeat expansion disorder caused by the abnormal expansion of triplet repeat CGG. 

Type: Single gene 

Gene: FMR1 gene 

Inheritance: X-linked dominant inheritance 

Cause: Abnormal expansion of triplet repeat CGG of FMR1 gene 

Symptoms: the majority of problems are related to learning and cognitive disabilities with intellectual disabilities and several mental problems. 

Prevalence: 1 in 4000 males and 1 in 8000 females 

XXX syndrome:

A type of sex chromosomal trisomy occurs due to the extra copy of one X chromosome. 

Type: trisomy 

Chromosome: X chromosome 

Inheritance: non-inherited 

Cause: The event of nondisjunction results in one extra copy of the X chromosome.

Symptoms: females taller than average, no severe mental or physical problems, however, females are more at risk of learning and intellectual disabilities.

Prevalence: 1 in 1,000 newborns. 

Cori’s disease: 

The present genetic condition is often known as glycogen storage disease type III.

Type: single gene disorder 

Gene: AGL gene 

Inheritance: Autosomal recessive 

Cause: loss of function mutation in the AGL gene 

Symptoms: Accumulation of glycogen abnormally. Causes dysfunction of several organs like liver or muscle.

Prevalence: 1 in 10,000 live birth

Pompe disease:

Pompe disease is also a type of inherited glycogen storage disorder. 

Type: single gene disorder

Gene: GAA gene 

Inheritance: autosomal recessive inheritance 

Cause: a mutation in the GAA gene 

Symptoms: Accumulation of glycogen, abnormally. Sometimes causes muscle weakness, poor muscle tone or weight loss. Also, hepatomegaly and heart defects are observed sometimes. 

Prevalence: 1 in 40,000 people in the United States. 

 More detail: Pompe disease

Friedreich Ataxia:

The present genetic condition is mainly associated with abnormal movement problems, related to hands and feet. 

Type: single gene disorder

Gene: FXN

Inheritance: Autosomal recessive inheritance

Cause: Abnormal expansion of GAA triplet repeat of FXN gene 

Symptoms: majorly impaired muscle coordination, loss of sensation in arms and legs and loss of strength. 

Prevalence: 1 in 40,000 people in the United States

Read more on Friedreich ataxia.

X-linked SCID- severe combined immunodeficiency syndrome: 

SCID categorised into the rare genetic disorders occurs due to mutations in genes involved in the development and functioning of immune cells. Although, the X linked SCID occurs due to only a single X-linked gene. 

Type: SIngle gene

Gene: mainly IL2RG

Inheritance: X-linked recessive 

Cause: Mutation in the IL2RG gene 

Symptoms: weak immune system, more at risk of frequent bacterial, viral or fungal infections. 

Prevalence: 1in 50,000 to 1 in 100,000

Read more on X-linked SCID

Fabry’s disease:

A type of lipid- globotriaosylceramide persistently build up in bodily cells. 

Type: single gene disorder

Gene: GLA 

Inheritance: X-linked inheritance but not specified whether dominant or recessive. 

Cause: Loss of function mutation in the GLA gene 

Symptoms: angiokeratomas- red skin spots, hypohidrosis and pain in hands and feet.

Prevalence: 1 in 40,000 to 60,000 males worldwide 

Read more on Fabry disease.

Gaucher’s disease:

Gaucher’s disease is an inherited genetic disorder categorised on Type 1 as non-neuropathic and Type 2 and 3 as neuropathic. 

Type: Single gene disorder 

Gene: GBA gene 

Inheritance: Autosomal recessive inheritance 

Cause: loss of function mutation in the GBA gene 

Symptoms: Broadly the symptoms of all three types of Gaucher’s disease are: hepatosplenomegaly, anaemia, CNS problems, hydrops fetalis, ichthyosis, distinctive facial features, thrombocytopenia and bone abnormalities. 

Prevalence: 1 in 50,000 to 100,000 

Read more on all three types of Gaucher’s disease

Niemann-pick lipidosis: 

An inherited genetic disease Niemann-pick disease or Niemann-pick lipidosis is divided into Type A, B, C1 and C2.

Type: polygenic disorder 

Gene: SMPD1 in case of Type A and B while NPC1 or NPC2 in case of type C1 and C2.

Inheritance: Autosomal recessive pattern of inheritance 

Cause: vary 

Symptoms: broadly recurrent pneumonia, disturbance in sleeping, difficulty in walking, dystonia and Excessive or abnormal eye movement or muscle contraction. 

Prevalence: Niemann-pick disease type A and B affects 1 in 250,000 individuals worldwide. Type C1 and C2 affect 1 in 150,000 individuals worldwide. 

Read more on Niemann-pick disease.

Albinism:

The present albinism condition known as oculocutaneous albinism causes colour pigmentation of skin, hair and eyes. 

Type: polygenic disorder 

Gene: OCA2, TYR, TYRP1 and SLC45A2

Inheritance: Autosomal recessive inheritance 

Cause: Mutation in one or many genes enlisted above

Symptoms: bright or white colour skin or hair, eyes pigmentation, visibility problem in sunlight, photophobia and a higher risk factor for skin cancer. 

Prevalence: 1 in 20,000 people worldwide.

Read more on oculocutaneous albinism.

Alkaptonuria: 

Alkaptonuria is a type of rare genetic condition caused by the defect of enzyme homogentisic acid dehydrogenase. The urine of people suffering from alkaptonuria turns black when exposed to air. 

Type: single gene disorder

Gene: HGD gene 

Inheritance: Autosomal recessive inheritance 

Cause: a mutation in the HGD gene 

Symptoms: kidney or prostate stone, dark pigmentation in connective tissues, cartilage or skin, dark coloured sweat and earwax.  

Prevalence: 1 in 250,000 to 1 million people worldwide. 

Read more on Alkaptonuria.

Phenylketonuria: 

A type of inherited genetic disorder known as PKU increases the level of phenylalanine in the blood is known as phenylketonuria. 

Type: Single gene disorder 

Gene: PAH gene 

Inheritance: Autosomal recessive inheritance 

Cause: A mutation in the PAH gene decreases the activity of phenylalanine hydroxylase. 

Symptoms: accumulation of too much phenylalanine in blood, Skin, urine and breath smells musty, eczema and some neurological problems. 

Prevalence: 1 in 10,000 to 15,000 newborn in the United States. 

Read more on Phenylketonuria.

Tay-Sachs disease: 

Tay-Sachs disease is a rare genetic condition that occurs due to gene mutations and destroys neurons in the brain and spinal cord. 

Type: Single gene disorder 

Gene: HEXA 

Inheritance: Autosomal recessive inheritance 

Cause: a mutation in the HEXA gene causes inactivation of beta-hexosaminidase A. 

Symptoms: loss of motor skills, vision and hearing loss, read spot in the eye, the problem in movement and muscle weakness. 

Prevalence: the present genetic condition is extremely rare and only found in some Ashkenazi peoples. 

Read more on Tay-Sachs disease.

Hurler’s syndrome: 

The present condition is a type of inherited genetic condition also known as mucopolysaccharidosis type 1 or MPS1. 

Type: Single gene disorder  

Gene: IDUA gene 

Inheritance: Autosomal recessive inheritance 

Cause: Mutation in IDUA gene 

Symptoms: 

Prevalence: 1 in 100,000 to 500,000 newborns worldwide. 

Read more on Hurler’s syndrome.

Hunter’s syndrome: 

The hunter’s syndrome is a type of mucopolysaccharidosis II or MPS II. 

Type: Single gene disorder 

Gene: IDS 

Inheritance: X-linked recessive inheritance 

Cause: Mutation in X linked IDS gene 

Symptoms: Breathing/ sleeping problems, Hearing loss, ear infection, cough, cold, throat infection, sinus, hard bone joints and numbness. 

Prevalence: 1 in 100,000 to 170,000 males worldwide. 

Read more on Hunter’s syndrome.

Homocystinuria: 

Homocystinuria is a type of inherited genetic condition in which some amino acids can’t be processed properly. 

Type: polygenic disorder 

Gene: MTHFR, MTR, CBS, MTRR, MMADHC and other 

Inheritance: mostly autosomal recessive inheritance 

Cause: Mutation in any of the gene listed above 

Symptoms: Dislocation of the eye lens, abnormal blood clotting, nearsightedness, osteoporosis, some learning disabilities and other developmental problems.  

Prevalence: 1 in 200,000 to 335,000 people worldwide. 

Read more on homocystinuria.

Maple syrup Urine disease: 

The present inherited genetic condition is also associated with the non-processing of some proteins. Due to the typical sweet odour of patients urine, it is known as Maple syrup urine disorder. 

Type: polygenic disorder 

Gene: DBT, BCKDHB and BCKDHA

Inheritance: autosomal recessive inheritance for all genes 

Cause: mutations in any of the gene listed above 

Symptoms: lethargy, maple sugar like urine odour, sweet odour of earwax and sweat, weak sucking ability, irregular sleep and irritability  

Prevalence: 1 in 185,000 people worldwide. 

Read more on maple syrup urine disease.

G6PD- glucose 6 phosphate dehydrogenase 

The G6PD is a type of genetic abnormality categorised as an inborn error of metabolism. 

Type: Single gene 

Gene: G6PD

Inheritance: X linked recessive 

Cause: Mutation in the G6PD gene 

Symptoms: No specific symptoms. Some are dark urine, yellowish skin, short breath and anaemia sometimes.

Prevalence: 1 in 10 African American males in the United States. 

Read more on Glucose 6 phosphate dehydrogenase deficiency.

Polycystic kidney disease: 

The present genetic condition is the type of inherited genetic condition mainly affects the kidney functions. 

Type: polygenic disorder 

Gene: PKD1, PKD2 and PKHD1 genes 

Inheritance: Autosomal dominant inheritance, mostly 

Cause: Mutation in any of the gene listed above 

Symptoms: Cysts develop in the kidney and interfere with the kidney function. 

Prevalence: Autosomal dominant inheritance- 1 in 500 to 1 in 1,000 while Autosomal recessive for 1 in 20,000 to 40,000 people worldwide. 

Read more on Polycystic kidney disease 

Familial hypercholesterolemia: 

The present condition is an inherited genetic condition that occurs due to the higher level of cholesterol in the blood. 

Type: polygenic disorder 

Gene: APOB, LDLR, LDLRAP1 and PCSK9. 

Inheritance: no specific inheritance but mostly autosomal dominant.  

Cause: Mutation or alteration in any of the gene listed above 

Symptoms: high level of cholesterol in the blood. 

Prevalence: 1 in 200 to 1 in 250 people worldwide. 

Read more on Familial hypercholesterolemia 

Marfan’s syndrome: 

The present genetic condition is associated with connective tissue defects. 

Type: Single gene disorder 

Gene: FBN1 

Inheritance: Autosomal dominant 

Cause: a mutation in the FBN1 gene 

Symptoms: connective defects in bone, blood vessels, eyes, heart and joint, abnormally curved spine, heart murmur and tall & slender build.  

Prevalence: 1 in 5,000 worldwide. 

Read more on Marfan’s syndrome 

Tuberous sclerosis complex

The present genetic condition characterised by the development of numerous benign tumours in different bodily parts. 

Type: polygenic disorder 

Gene: TSC1 and TSC2 gene 

Inheritance: Autosomal dominant inheritance 

Cause: Mutation in any of the TSC gene 

Symptoms: a benign tumour in kidney, skin, brain and other body parts, hypopigmented macules, facial rashes and other related complications.  

Prevalence: 1 in 6,000 people worldwide. 

Read more on Tuberous sclerosis complex

Galactosemia: 

Galactosemia is a condition associated with the accumulation of the sugar galactose in the body. 

Type: polygenic disorder 

Gene: GALT, GALT1 and GALE

Inheritance: autosomal recessive pattern of inheritance 

Cause: a mutation in any of the gene given above 

Symptoms: irritability, lethargy, convulsion, poor feeding, poor weight gain and frequent vomiting. 

Prevalence: 1 in 30,000 to 60,000 newborn. 

Conclusion:

Most gene disorders follow a specific mendelian pattern of inheritance, however, chromosomal aberrations like numerical chromosomal abnormalities do not have any specific inheritance pattern.

Here we have enlisted only 50 genetic disorders, we will updates the article regularly and will add up to 100 genetic disorders.