Rare Genetic Disorders

YES Is Achondroplasia genetic? ~100% heritable Achondroplasia is the most common form of short-limbed dwarfism caused by a specific mutation in the… YES Is Adrenoleukodystrophy genetic? ~100% heritable X-linked adrenoleukodystrophy is caused by ABCD1 mutations causing accumulation of very long-chain f… YES Is Alagille Syndrome genetic? ~100% heritable A multisystem disorder affecting the liver heart spine face and eyes caused by mutations in JAG1 or … YES Is Albinism genetic? ~100% heritable Oculocutaneous albinism results from mutations affecting melanin biosynthesis. Multiple gene types e… YES Is Alpha-1 Antitrypsin Deficiency genetic? ~100% heritable Alpha-1 antitrypsin deficiency is a common hereditary condition that can lead to emphysema and liver… YES Is Alport Syndrome genetic? ~100% heritable Alport syndrome is a hereditary kidney disease caused by mutations in collagen genes. It leads to pr… YES Is Angelman Syndrome genetic? ~100% heritable Angelman syndrome is caused by loss of the maternal copy of the UBE3A gene on chromosome 15 and resu… YES Is Apert Syndrome genetic? ~100% heritable Apert syndrome is characterised by premature fusion of skull bones and fusion of the fingers and toe… YES Is Ataxia-Telangiectasia genetic? ~100% heritable A-T is a rare inherited disorder causing progressive loss of coordination immunodeficiency and a gre… YES Is Bardet-Biedl Syndrome genetic? ~100% heritable A ciliopathy causing obesity retinal dystrophy polydactyly and renal anomalies. At least 21 BBS gene… YES Is Batten Disease genetic? ~100% heritable Batten disease (neuronal ceroid lipofuscinosis) is a fatal childhood neurological disorder caused by… YES Is Beckwith-Wiedemann Syndrome genetic? ~100% heritable Beckwith-Wiedemann syndrome is caused by imprinting disorders at chromosome 11p15.5. It causes overg… YES Is CHARGE Syndrome genetic? ~100% heritable CHARGE syndrome is caused by CHD7 mutations and affects the eyes heart choanae retardation genitalia… YES Is Campomelic Dysplasia genetic? ~100% heritable A severe skeletal dysplasia with sex reversal caused by SOX9 mutations or regulatory disruptions. Mo… YES Is Canavan Disease genetic? ~100% heritable Canavan disease is a fatal leukodystrophy caused by ASPA mutations causing spongy degeneration of wh… YES Is Complement Deficiency genetic? ~100% heritable Hereditary complement deficiencies predispose to recurrent bacterial infections particularly with en… YES Is Congenital Cataracts genetic? ~75% heritable Lens clouding present at birth. About 25–30% of congenital cataracts are hereditary with multiple ge… YES Is Cornelia de Lange Syndrome genetic? ~100% heritable A multisystem developmental disorder caused by mutations in cohesin complex genes characterised by g… YES Is Darier's Disease genetic? ~100% heritable A skin disorder causing warty papules in seborrhoeic areas caused by ATP2A2 mutations affecting calc… YES Is Dentinogenesis Imperfecta genetic? ~100% heritable A hereditary dentin disorder causing abnormal tooth development; three types exist all linked to DSP… YES Is DiGeorge Syndrome genetic? ~100% heritable DiGeorge syndrome (22q11.2 deletion syndrome) is caused by a small deletion on chromosome 22 and aff… YES Is DiGeorge Syndrome (22q11.2 deletion) genetic? ~100% heritable Caused by a deletion of chromosome 22q11.2 resulting in heart defects immune deficiency palate abnor… YES Is Duchenne Muscular Dystrophy genetic? ~100% heritable Duchenne MD is the most severe form of muscular dystrophy almost exclusively affecting males. It is … YES Is Epidermolysis Bullosa genetic? ~100% heritable Epidermolysis bullosa is a group of inherited skin disorders causing extremely fragile skin that bli… YES Is Fabry Disease genetic? ~100% heritable Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations causing accumulation… YES Is Familial Mediterranean Fever genetic? ~100% heritable Familial Mediterranean fever causes recurrent episodes of fever and inflammation of the abdomen ches… YES Is Gaucher Disease Type 2 genetic? ~100% heritable Type 2 Gaucher disease is the most severe form causing rapidly progressive neurological deterioratio… YES Is Haemophilia genetic? ~100% heritable Haemophilia A and B are X-linked bleeding disorders caused by deficiencies in clotting factors VIII … YES Is Hereditary Deafness genetic? ~100% heritable GJB2 mutations (connexin 26) account for ~50% of autosomal recessive non-syndromic hearing loss worl… YES Is Hereditary Haemochromatosis genetic? ~100% heritable Iron overload disorder very common in northern Europeans (~1 in 200 homozygous for C282Y). Penetranc… YES Is Hereditary Haemorrhagic Telangiectasia genetic? ~100% heritable HHT causes abnormal blood vessel formation leading to recurrent nosebleeds and arteriovenous malform… YES Is Hereditary Hypophosphataemia genetic? ~100% heritable X-linked hypophosphataemia is the most common inherited form of rickets caused by PHEX mutations lea… YES Is Hereditary Multiple Exostoses genetic? ~100% heritable Multiple benign bone tumours (osteochondromas) caused by EXT1 or EXT2 mutations with risk of maligna… YES Is Hereditary Ptosis genetic? ~100% heritable Drooping of the upper eyelid. Isolated congenital ptosis shows autosomal dominant inheritance in man… YES Is Holt-Oram Syndrome genetic? ~100% heritable Heart-hand syndrome causing atrial septal defect and upper limb malformations due to TBX5 mutations. YES Is Hypochondroplasia genetic? ~100% heritable A relatively mild skeletal dysplasia causing short-limbed dwarfism caused by specific FGFR3 mutation… YES Is Ichthyosis genetic? ~100% heritable Ichthyosis is a group of skin conditions causing dry scaly skin. Several forms are inherited with di… YES Is Kabuki Syndrome genetic? ~100% heritable Kabuki syndrome is a rare developmental disorder characterised by distinctive facial features intell… YES Is Kallmann Syndrome genetic? ~100% heritable Delayed puberty with absent sense of smell due to deficient GnRH neurons. Multiple inheritance patte… YES Is Kennedy Disease (SBMA) genetic? ~100% heritable X-linked spinal and bulbar muscular atrophy caused by CAG repeat expansion in the androgen receptor … YES Is Krabbe Disease genetic? ~100% heritable Krabbe disease is a lysosomal storage disease causing progressive neurological deterioration. Neonat… YES Is Larsen Syndrome genetic? ~100% heritable Multiple large joint dislocations with distinctive facial features caused by FLNB filamin B mutation… YES Is Leber Congenital Amaurosis genetic? ~100% heritable The most severe inherited retinal dystrophy presenting in infancy. RPE65 gene therapy was the first … YES Is Leber Hereditary Optic Neuropathy genetic? ~100% heritable LHON is a mitochondrially inherited eye disease causing acute painless central vision loss. The muta… YES Is Leukodystrophy genetic? ~100% heritable A group of inherited disorders affecting the myelin sheath of the central nervous system. Over 30 ge… YES Is Limb-Girdle Muscular Dystrophy genetic? ~100% heritable A heterogeneous group of progressive muscle disorders. Over 30 genetic subtypes exist; CAPN3 mutatio… YES Is Lowe Syndrome genetic? ~100% heritable Lowe syndrome (oculocerebrorenal syndrome) is an X-linked disorder causing cataracts intellectual di… YES Is MELAS Syndrome genetic? ~100% heritable Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes caused by mitochondrial DNA… YES Is Menkes Disease genetic? ~100% heritable Menkes disease is an X-linked copper deficiency disorder caused by ATP7A mutations. It causes severe… YES Is Metachromatic Leukodystrophy genetic? ~100% heritable MLD is caused by deficiency of arylsulfatase A leading to accumulation of sulfatides in the nervous … YES Is Microcephaly genetic? ~80% heritable Small brain circumference; primary (genetic) forms caused by mutations in genes controlling neuronal… YES Is Mucopolysaccharidosis genetic? ~100% heritable Mucopolysaccharidoses are a group of lysosomal storage diseases caused by deficiency of enzymes need… YES Is Mucopolysaccharidosis (MPS) genetic? ~100% heritable A group of lysosomal storage disorders caused by enzyme deficiencies leading to glycosaminoglycan ac… YES Is Myotonic Dystrophy genetic? ~100% heritable Myotonic dystrophy is the most common adult form of muscular dystrophy caused by trinucleotide repea… YES Is Nail-Patella Syndrome genetic? ~100% heritable A rare disorder causing underdeveloped nails and kneecaps with kidney and eye complications due to L… YES Is Neurofibromatosis Type 1 genetic? ~100% heritable Affects 1 in 3000; caused by NF1 tumour suppressor mutations causing skin lesions nerve tumours and … YES Is Neurofibromatosis Type 2 genetic? ~100% heritable NF2 is a rare hereditary condition causing benign tumours of the auditory nerves leading to hearing … YES Is Niemann-Pick Disease genetic? ~100% heritable Niemann-Pick disease is a group of lysosomal storage disorders causing lipid accumulation. Different… YES Is Noonan Syndrome genetic? ~100% heritable Noonan syndrome is a common genetic disorder affecting heart development facial features and growth … YES Is OTC Deficiency genetic? ~100% heritable OTC deficiency is the most common urea cycle disorder caused by OTC gene mutations. It causes ammoni… YES Is Oculopharyngeal Muscular Dystrophy genetic? ~100% heritable Late-onset muscular dystrophy particularly common in French-Canadian and Bukharan Jewish populations… YES Is Osteogenesis Imperfecta genetic? ~100% heritable Osteogenesis imperfecta (brittle bone disease) is caused by mutations in genes encoding type I colla… YES Is Periodic Fever Syndromes genetic? ~100% heritable Hereditary periodic fever syndromes cause recurrent episodes of fever and inflammation. Multiple dif… YES Is Persistent Müllerian Duct Syndrome genetic? ~100% heritable A disorder of sex development where Müllerian structures persist in chromosomally male individuals d… YES Is Pompe Disease genetic? ~100% heritable Pompe disease (glycogen storage disease type II) is caused by GAA mutations causing glycogen accumul… YES Is Prader-Willi Syndrome genetic? ~100% heritable Prader-Willi syndrome is caused by loss of function of genes on chromosome 15 that are normally only… YES Is Primary Ciliary Dyskinesia genetic? ~100% heritable Primary ciliary dyskinesia is a rare hereditary condition affecting the microscopic hairs that line … YES Is Primary Immunodeficiency genetic? ~100% heritable Primary immunodeficiencies are a group of over 350 inherited disorders affecting the immune system. … YES Is Retinitis Pigmentosa genetic? ~100% heritable Retinitis pigmentosa is a group of genetic eye disorders causing progressive loss of peripheral and … YES Is Robinow Syndrome genetic? ~100% heritable Robinow syndrome causes short stature skeletal abnormalities and distinctive facial features. Autoso… YES Is Rubinstein-Taybi Syndrome genetic? ~100% heritable A syndrome causing intellectual disability broad thumbs and toes and distinctive facial features due… YES Is Severe Combined Immunodeficiency genetic? ~100% heritable SCID is a group of rare life-threatening primary immunodeficiencies. The X-linked form caused by IL2… YES Is Silver-Russell Syndrome genetic? ~100% heritable A growth retardation syndrome caused by imprinting defects at chromosome 11p15 or maternal UPD7. Ass… YES Is Smith-Lemli-Opitz Syndrome genetic? ~100% heritable SLO syndrome is caused by DHCR7 mutations affecting cholesterol synthesis. It causes intellectual di… YES Is Sotos Syndrome genetic? ~100% heritable An overgrowth syndrome with tall stature macrocephaly and intellectual disability caused by NSD1 mut… YES Is Stargardt Disease genetic? ~100% heritable The most common inherited macular dystrophy causing progressive central vision loss in childhood or … YES Is Tay-Sachs Disease genetic? ~100% heritable Tay-Sachs disease is a fatal lysosomal storage disorder caused by HEXA mutations. Carrier screening … YES Is Thalassaemia genetic? ~100% heritable Thalassaemia encompasses a group of inherited blood disorders affecting haemoglobin production. Alph… YES Is Treacher Collins Syndrome genetic? ~100% heritable A craniofacial dysostosis syndrome affecting cheekbones jaws and ears caused by TCOF1 mutations in ~… YES Is Tuberous Sclerosis Complex genetic? ~100% heritable Causes benign tumours in multiple organs (brain kidney lung skin) due to TSC1 or TSC2 mutations. ~65… YES Is Velocardiofacial Syndrome (22q11.2) genetic? ~100% heritable A multisystem disorder caused by 22q11.2 deletion causing heart defects cleft palate immune deficien… YES Is Waardenburg Syndrome genetic? ~100% heritable A disorder causing pigmentation defects and congenital hearing loss due to neural crest development … YES Is Williams Syndrome genetic? ~100% heritable Williams syndrome is caused by a deletion of about 26 genes on chromosome 7 including the ELN gene. … YES Is Wiskott-Aldrich Syndrome genetic? ~100% heritable Wiskott-Aldrich syndrome is an X-linked primary immunodeficiency causing thrombocytopenia eczema and… YES Is Wolf-Hirschhorn Syndrome genetic? ~100% heritable A contiguous gene deletion syndrome (4p16.3) causing severe intellectual disability seizures growth … YES Is Wolfram Syndrome genetic? ~100% heritable Wolfram syndrome causes diabetes insipidus diabetes mellitus optic atrophy and deafness. It is cause… YES Is Xeroderma Pigmentosum genetic? ~100% heritable Xeroderma pigmentosum causes extreme sensitivity to ultraviolet light and a dramatically increased r… PARTIAL Is Amyloidosis genetic? ~50% heritable Hereditary amyloidosis caused by TTR mutations leads to protein deposits in nerves and heart. Acquir… PARTIAL Is Brachycephaly genetic? ~50% heritable Isolated cranial shape variation; syndromic forms with craniosynostosis are caused by identifiable g… PARTIAL Is Ichthyosis Vulgaris genetic? ~90% heritable The most common inherited skin scaling disorder caused by FLG mutations. Semi-dominant inheritance; … PARTIAL Is Intellectual Disability (Genetic) genetic? ~70% heritable Genetic forms of intellectual disability include X-linked conditions like fragile X syndrome and Ret… PARTIAL Is Klippel-Trenaunay Syndrome genetic? ~50% heritable A rare vascular anomaly with limb hypertrophy caused by somatic PIK3CA mutations. Most cases are spo… PARTIAL Is Polydactyly genetic? ~70% heritable Extra digit(s) on hands or feet. Isolated polydactyly is often autosomal dominant with reduced penet…