SRD5A3-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES
CDG1Q
CDG Iq
CDGIq
CDG-Iq
Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency
Number of Symptoms 37
OrphanetNr: 324737
OMIM Id: 612379
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with skin involvement
 -Rare genetic disease
 -Rare skin disease
Disorder of multiple glycosylation
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge 381 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000248) Brachycephaly 222 / 7739
4
 (HPO:0000589) Coloboma 47 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0000572) Visual loss variable [HPO:skoehler] 272 / 7739
7
 (HPO:0000369) Low-set ears 372 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
11
 (HPO:0000973) Cutis laxa 43 / 7739
12
 (HPO:0008064) Ichthyosis 108 / 7739
13
 (HPO:0000962) Hyperkeratosis 216 / 7739
14
 (HPO:0000964) Eczema 81 / 7739
15
 (HPO:0000998) Hypertrichosis 52 / 7739
16
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
17
 (HPO:0001976) Reduced antithrombin III activity 10 / 7739
18
 (HPO:0001892) Abnormal bleeding 85 / 7739
19
 (HPO:0001935) Microcytic anemia 32 / 7739
20
 (HPO:0001928) Abnormality of coagulation 44 / 7739
21
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0001252) Muscular hypotonia 990 / 7739
25
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Dark pigmentation of knees and dorsum of hands and feet 1 / 7739
28
 (OMIM) Low IGF1 and IGFBP3 1 / 7739
29
 (OMIM) Visual loss, variable 1 / 7739
30
 (HPO:0002126) Polymicrogyria 64 / 7739
31
 (OMIM) Hypoplasia of the optic disc 1 / 7739
32
 (OMIM) Polymicrogyria, frontal 1 / 7739
33
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
34
 (OMIM) Loose skin at birth 1 / 7739
35
 (HPO:0003593) Infantile onset 249 / 7739
36
 (OMIM) Hyperkeratosis, particularly on palms and soles of feet 1 / 7739
37
 (OMIM) Pituitary gland hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Al-Gazali et al. (2008) reported an inbred Emirati family of Baluchi origin with ocular colobomas, ichthyosis, and endocrine abnormalities associated with midline brain malformations and mental retardation. All 4 affected children had ocular colobomas, developmental delay, and midline ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing of a family reported by Al-Gazali et al. (2008), Cantagrel et al. (2010) identified a homozygous mutation in the SRD5A3 gene (611715.0001). Analysis of similarly affected families identified 6 others ...