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Sex linked hereditary disorders

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Sex linked hereditary disorders are genetic disorders due to sex linkage, the phenotypic expression of an allele that is related to the chromosomal sex of the individual.


See alsoEdit



v·d·e
Sex linkage: X-linked recessive disorders
Immune

Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked Severe Combined Immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX

Hematologic

Haemophilia A · Haemophilia B · X-linked sideroblastic anemia · X-linked lymphoproliferative disease

Endocrine

Androgen insensitivity syndrome/Kennedy disease · Diabetes insipidus

Metabolic

amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome

dyslipidemia: Adrenoleukodystrophy

carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb

lipid storage disorder: Fabry's disease

mucopolysaccharidosis: Hunter syndrome

purine-pyrimidine metabolism: Lesch-Nyhan syndrome

mineral: Menkes disease

Nervous system

X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X syndrome · MASA syndrome · Rett syndrome

eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia

other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease

Skin

Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis

Neuromuscular

Becker's muscular dystrophy/Duchenne · Centronuclear myopathy · Myotubular myopathy · Conradi-Hünermann syndrome

Urologic

Alport syndrome · Dent's disease

No primary system

Barth syndrome · McLeod syndrome · Simpson-Golabi-Behmel syndrome

Note: there are very few X-linked dominant disorders. These include X-linked hypophosphatemia, Focal dermal hypoplasia, Aicardi syndrome, Incontinentia pigmenti, and CHILD.

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