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Items: 4

1.

Placental sulfatase deficiency

sex linked inherited disease characterized by excessive scaling [from CHV]

MedGen UID:
404049
Concept ID:
C2720163
Disease or Syndrome
2.

Deficiency of steryl-sulfatase

MedGen UID:
403441
Concept ID:
C2717836
Disease or Syndrome
3.

Ichthyosis, X-Linked, Complicated

MedGen UID:
383170
Concept ID:
C2677713
Disease or Syndrome
4.

X-linked ichthyosis with steryl-sulfatase deficiency

Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris (146700), which is caused by mutations in the filaggrin gene (FLG; 135940). Ichthyosis can also be observed in multiple sulfatase deficiency (272200) (Shapiro, 1977). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients. [from OMIM]

MedGen UID:
86937
Concept ID:
C0079588
Disease or Syndrome
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