Details of Disease

General Information of Disease (ID: DISGHPPC)

Disease Name SRD5A3-congenital disorder of glycosylation
Synonyms
congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency; SRD5A3-CDG (CDG-Iq); congenital disorder of glycosylation, type Iq; coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities; CDG Iq; CDGIq; SRD5A3-congenital disorder of glycosylation; congenital disorder of glycosylation type 1q; SRD5A3-CDG; CDG syndrome type Iq; CDG-Iq; CDG1Q; congenital disorder of glycosylation type Iq
Definition
A rare, non X-linked congenital disorder of gyclosylation 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 Hierarchy
DISO85MT: Disorder of multiple glycosylation
DISBHHT1: Congenital disorder of glycosylation type I
DISGHPPC: SRD5A3-congenital disorder of glycosylation
Disease Identifiers
MONDO ID
MONDO_0012885
MESH ID
C567328
UMLS CUI
C4317224
OMIM ID
612379
MedGen ID
1392124
Orphanet ID
324737
SNOMED CT ID
733601006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC35A1 DTVZIRG moderate Biomarker [1]
SLC35A1 DTVZIRG Strong Autosomal recessive [1]
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This Disease Is Related to 4 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
SRD5A3 DEZGVDW Limited Biomarker [2]
PMM2 DEBRX3L Strong Biomarker [3]
PMM2 DEBRX3L Definitive Autosomal recessive [4]
SRD5A3 DEZGVDW Definitive Autosomal recessive [5]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MOGS OT99MBGB Strong Autosomal recessive [6]
SLC35A1 OTPWOOVA Strong Autosomal recessive [1]
DOLK OT2HTIAN Definitive Autosomal recessive [7]
DPM1 OTXRRVGT Definitive Autosomal recessive [8]
MPDU1 OT27UPHN Definitive Autosomal recessive [9]
MPI OTBH6ZK1 Definitive Autosomal recessive [10]
PMM2 OTBXEB91 Definitive Autosomal recessive [4]
SRD5A3 OT9IJLX7 Definitive Autosomal recessive [5]
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⏷ Show the Full List of 8 DOT(s)

References

1 Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood. 2005 Apr 1;105(7):2671-6. doi: 10.1182/blood-2004-09-3509. Epub 2004 Dec 2.
2 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
3 Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.
4 Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency). J Inherit Metab Dis. 2001 Dec;24(8):858-62. doi: 10.1023/a:1013944308881.
5 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
6 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
7 A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet. 2007 Mar;80(3):433-40.
8 Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). J Clin Invest. 2000 Jan;105(2):191-8. doi: 10.1172/JCI7302.
9 A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). J Clin Invest. 2001 Dec;108(11):1613-9. doi: 10.1172/JCI13635.
10 Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest. 1998 Apr 1;101(7):1414-20. doi: 10.1172/JCI2350.