SRD5A3-CDG
Synonyms: CDG syndrome type Iq · CDG-Iq · CDG1Q · Congenital disorder of glycosylation type 1q · Congenital disorder of glycosylation type Iq
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SRD5A3-CDG | CDG syndrome type Iq · CDG-Iq · CDG1Q · Congenital disorder of glycosylation type 1q · Congenital disorder of glycosylation type Iq |
| fr | SRD5A3-CDG | Anomalie congénitale de la glycosylation type 1q · Anomalie congénitale de la glycosylation type Iq · CDG-Iq · CDG1Q · Syndrome CDG type Iq |
| de | SRD5A3-CDG | CDG (Congenital Disorder of Glycosylation) Typ Iq · CDG-Iq · CDG-Syndrom Iq · CDG1Q · Kohlenhydrat-defizientes Glykoprotein-Syndrom Iq · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iq |
| es | SRD5A3-CDG | CDG-Iq · CDG1Q · Síndrome CDG tipo Iq · Trastorno congénito de la glicosilación tipo 1q · Trastorno congénito de la glicosilación tipo Iq |
| it | SRD5A3-CDG | CDG-Iq · CDG1Q · Disturbo congenito della glicosilazione, tipo 1q · Disturbo congenito della glicosilazione, tipo Iq |
| nl | SRD5A3-CDG | CDG-Iq · CDG-syndroom type Iq · CDG1Q · Congenitale defecten van de glycosylering type 1q · Congenitale defecten van de glycosylering type Iq · Congenitale glycosylatiestoornis type 1q · Congenitale glycosylatiestoornis type Iq |
| pt | Síndrome SRD5A3-CDG | |
| pl | SRD5A3-CDG | CDG1Q · CDG-Iq · Zespół CDG typu Iq · Wrodzone zaburzenie glikozylacji typu 1q · Wrodzone zaburzenie glikozylacji typu Iq |
| cs | SRD5A3-CDG | CDG-Iq · CDG1Q · Vrozená porucha glykosylace, typ 1q · Vrozená porucha glykosylace, typ Iq |
| uk | SRD5A3-CDG | Синдром CDG, тип Iq · CDG1Q · CDG-Iq · Вроджене порушення глікозилювання типу 1q · Вроджене порушення глікозилювання типу Iq |
| zh | SRD5A3基因型先天性糖基化障碍 | 先天性糖基化障碍Iq型 |
| tr | SRD5A3-CDG | CDG1Q · CDG-Iq · CDG sendromu tipi Iq · Tip 1q glikozilasyonun doğumsal bozukluğu · Tipik glikozilasyonun doğumsal bozukluğu Iq |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612379 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0012885 | E | validated | |
| UMLS | C4317224 | E | validated | |
| GARD | 12397 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:519345Rare disorder with optic disc malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:139477Al-Gazali-Dattani syndrome moved to · inactive
- ORPHA:168972Kahrizi syndrome moved to · inactive
- ORPHA:171860OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRD5A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:25812 | ENSG00000128039 | 611715 | 4q12 | steroid 5 alpha-reductase 3 | 20637498[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 18271001[PMID]_20637498[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18271001[PMID]_20637498[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
33 annotations · validated 2019-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000648 | Optic atrophy | |
| HP:0003642 | Type I transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0000589 | Coloboma | |
| HP:0008947 | Floppy infant | |
| HP:0008064 | Ichthyosis | |
| HP:0001935 | Microcytic anemia | |
| HP:0000639 | Nystagmus | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000821 | Hypothyroidism | |
| HP:0002808 | Kyphosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001250 | Seizure | |
| HP:0005585 | Spotty hyperpigmentation | |
| Excluded (0%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0000365 | Hearing impairment | |
| HP:0000677 | Oligodontia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27480077[PMID]_20637498[PMID]_18271001[PMID]_20301507[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324737
- This record as JSON: /data/d/324737.json