Genetic disorders database

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  • Beckwith Wiedemann Syndrome Beckwith Wiedemann Syndrome

    BWS is an overgrowth disorder prevalent at birth, with different symptoms, all or some may be present. They include: large tongue (macroglossia), large abdominal organs, larger in general (e.g. for gestational age), umbilical hernia, port/wine stain, hypoglygaemia, hyperinsulinism, asymmetry (hemihypertrophy), ear pits.

  • Cadasil Cadasil

    Most common form of hereditary stroke disorder


    Congenital disorders of glycosylation ()CDGs are a group of inherited metabolic conditions caused by deficiencies of different enzymes that are needed to make oligosaccharides (sugars linked together in a specific pattern) that are attached to proteins and lipids. This chemical process takes place in every living human cell and is needed for the normal function of tissues and organs.

  • CDKL5 Disorder CDKL5 Disorder

    CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control, seizures, and severe neuro-developmental impairment. CDKL5 is classed as a rare disease, however more and more children and indeed adults are being diagnosed every day.

  • Cerebrotendinous Xanthomatosis Cerebrotendinous Xanthomatosis

    CTX is caused by a mutation in a gene called CYP27A1, which produces an enzyme called sterol 27-hydroxylase. Sterol 27-hydroxylase is required to turn cholesterol into bile acids. When sterol 27-hydroxylase is not working properly, lipids (cholestanol and cholesterol)accumulates in the tissues.

  • Charcot-Marie-Tooth Disease (CMT) Charcot-Marie-Tooth Disease (CMT)

    This is a genetic disorder of the peripheral nervous system. Damage to the peripheral nerves causes muscle wasting and weakness in the arms and legs, and rarely, in the diaphragm. People can be affected at all ages and there is a wide range of severity. The condition is slowly progressive.

  • Chronic Congenital Neutropenia Chronic Congenital Neutropenia

    This form of neutropenia arises in babies and young children who don't have cancer, but unlike other forms persists throughout the individual's life time causing frequent infections. It may initially be diagnosed as another form of neutropenia. Chronic neutropenia is a condition caused by a lower than normal level of neutrophils, a type of white blood cell. It can be classified as severe, moderate or mild depending on the number of neutrophils in the blood.

  • Cleidocranial dysplasia Cleidocranial dysplasia

    Cleidocrainial dysplasia is a genetic condition that primarily affects the development of the bones and teeth.

  • Congenital adrenal hyperplasia Congenital adrenal hyperplasia

    CAH refers to a group of disorders that are present at birth (congenital) and where the adrenal glands are larger than usual (hyperplasia). In CAH production of the hormone cortisol (hydrocortisone) from the adrenal glands is impaired.

  • Cowden syndrome Cowden syndrome

    Patients tend to have a large head that is longer than wide. Autism and developmental delays have been observed at an increased frequency in patients with Cowden syndrome.

  • Cystinuria Cystinuria

    An inherited metabolic disorder characterised by too much of the amino acid cystine in the urine, which is insoluble causing cystine stones. Unlike regular stones, cystine stones are usually very hard and maybe resistant to some forms of treatment. Sometimes medications are required to control the disease. However the first step is to ensure a high fluid intake to keep the urine dilute.

  • deletion 19q13.12 deletion 19q13.12

  • Deletion of chromosome 13Q (14.1;21.2) Deletion of chromosome 13Q (14.1;21.2)

    Can cause Retinoblastoma, development delays, learning difficulties

  • Dravet Syndrome Dravet Syndrome

    Dravet Syndrome is a catastrophic rare form of childhood epilepsy, with seizures that typically begin during the first year of life. Often the first seizures occur with fever and are generalised tonic-clonic (involving the whole body) or one-sided convulsions. These seizures are often prolonged and require emergency intervention. Seizures increase in frequency and begin to occur without fever. Additional seizure types also appear. The child’s development starts to slow down.

  • Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome

    This is a disorder of collagen, the most abundant protein in the human body. There are several different forms of it which vary in severity.

  • Familial adenomtous polyposis Familial adenomtous polyposis

    Mulitple polyps develop in the colon by late teens. Left untreated, the polyps will lead to bowel cancer. Other symptoms can include benign cysts, bone abnormalities and increased risk of other cancers.

  • Familial Hypercholesterolaemia Familial Hypercholesterolaemia

    Inherited high cholesterol is not caused by an unhealthy diet or lifestyle, but is passed from generation to generation through a “faulty” or “altered” gene. Inheriting FH leads to exceptionally high cholesterol levels, often double and sometimes four times those of the general population. In people with FH, raised levels of cholesterol lead to early heart disease, if left untreated. But early diagnosis of FH and effective treatment reduces the risk of heart disease.

  • Familial Platelet Disorder with propensity for Acute Myeloid Leukemia Familial Platelet Disorder with propensity for Acute Myeloid Leukemia

    A Familial Platelet Disorder with associated risk of acute Myeloid Leukemia (AML).

  • Fanconi Anaemia Fanconi Anaemia

    Fanconi Anaemia (FA) is a rare, life-limiting inherited genetic disorder, with an incidence of about 1 in 350,000. Life expectancy is currently around 29 years.

  • Femur fibula ulna complex Femur fibula ulna complex

    Femur Fibula Ulna Complex is a very rare syndrome characterized by abnormalities of the femur, fibula and the ulna.

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