SRD5A3-CDG

Orpha code: 324737OMIM code: 612379

Definition

SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

Disease data
Classification

Disease

Synonyms
CDG syndrome type Iq
CDG1Q
CDG-Iq
Zespół CDG typu Iq
Wrodzone zaburzenie glikozylacji typu 1q
Wrodzone zaburzenie glikozylacji typu Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
ORPHA code
324737
OMIM code
612379
ICD10 code
E77.8
ICD11 code
-

No additional description.

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