Genetic disorders database

You can see all the disorders listed in our database below. If you would like to add a new entry, please click the button below. If you would like to edit existing listing, you can do so by clicking on one of the disorders below.

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  • Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressiva

    FOP is one of the rarest, most disabling genetic conditions known to medicine, it causes bone to form in muscles, tendons, ligaments and other connective tissues. Bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone. There are no other known examples in medicine of one normal organ system turning into another. FOP impacts just 1 in 2,000,000 people.

  • Fibromuscular dysplasia Fibromuscular dysplasia

    Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory disease of the blood vessels that causes abnormal growth within the wall of an artery.


    A rare prenatally lethal disorder

  • galactosaemia galactosaemia

    Galactosemia is a disorder that affects how the body processes a simple sugar called galactose.

  • GATA2 Deficiency GATA2 Deficiency

    GATA2 deficiency is a germline disease which can cause a variety of phenotypes including viral and bacterial infections, cytopenias, myelodysplasia, myeloid leukaemias, pulmonary alveolar proteinosis and lymphedema.

  • Gitelman Syndrome Gitelman Syndrome

    Gitelman Syndrome is a life threatening genetic inherited kidney disease.

  • Goltz syndrome Goltz syndrome

    Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face

  • Haemochromatosis Haemochromatosis

    A genetic disorder causing the body to absorb an excessive amount of iron from the diet: the iron is then deposited in various organs, mainly the liver, but also the heart, endocrine glands such as the pancreas, and joints. This is iron overload.

  • Hereditary Neuropathy with liability to Pressure Palsies Hereditary Neuropathy with liability to Pressure Palsies

    Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is an often painful nerve disorder that affects the peripheral nerves. The main effect of HNPP are pressure palsies.

  • HHT Blood disorder (hereditary hemorrhagic telangiectasia) HHT Blood disorder (hereditary hemorrhagic telangiectasia)

    Osler–Weber–Rendu syndrome

  • Huntington's Disease and Juvenile Huntington's Disease Huntington's Disease and Juvenile Huntington's Disease

    Huntington's Disease is a neurodegenerative hereditary condition that damages healthy brain cells and erodes a person's ability to speak, walk, talk, swallow and think clearly. In adults, it typically begins between ages 30-50. A juvenile version affects 5-10% of those with HD and begins before age 20.

  • Hyperekplexia Hyperekplexia

    Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch.

  • Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia

    Genetic disorder that affects the development of sweat glands, teeth, skin, hair and nails.

  • Hypomagnesemia with secondary hypocalcemia (HSH) Hypomagnesemia with secondary hypocalcemia (HSH)

    Where magnesium is not absorbed correctly due to a gene affecting the kidneys/intestines or colon. This causes hypomagnesemia and secondary hypocalcemia, which causes seizures in infancy. It not caught it can be fatal or lead to neurological damage.

  • Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL) Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL)

    HBSL is a progressive inherited white matter disease (also called Leukoencephalopathy) that affects the brain and spinal cord. Leukoencephalopathy refers to a group of genetic disorders characterised by imperfect myelin, which is the fatty covering that insulates nerve fibres.

  • Hypophosphatasia Hypophosphatasia

    Defective gene which affects bone mineralisation. There are different levels of physical presentation depending on what age symptoms emerge. Children can be severely affected, sometimes it is a fatal disease or results in severe deformities. I have a mild adult onset form which is characterised by stress fractures in feet, poor dentition and osteo arthritis.

  • Idic 15 Idic 15

    A rare disorder relating to Chromosome 15, which causes too much genetic material, usually in every cell in the body. For various reasons, symptoms vary greatly among individuals but can include: poor muscle tone, delayed development, impairment of motor skills (including sitting and walking), epilepsy, cognitive disability, autism.

  • Kabuki Syndrome Kabuki Syndrome

    Kabuki syndrome is a rare condition affecting many body systems. Those with the disorder typically have distinctive facial features, growth delays, varying degrees of intellectual disability, and short stature. A wide variety of additional symptoms can potentially occur.

  • Kleefstra Syndrome Kleefstra Syndrome

    KS is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features.

  • Klinefelter's Sydrome Klinefelter's Sydrome

    Klinefelter's Syndrome (KS) is caused by a common congenital condition which is found in around 1 in 650 live male births and is the result of the presence of one or more additional sex chromosomes. Chromosomes are genetic material and a person's sex is determined by X and Y chromosomes. Generally males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Klinefelter's Syndrome is characterised by the presence of an additional chromosome (XXY).

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