GM3 synthase deficiency
Synonyms: ST3GAL5-CDG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GM3 synthase deficiency | ST3GAL5-CDG |
| fr | Déficit en GM3 synthase | = en |
| de | GM3-Synthase-Mangel | = en |
| es | Deficiencia de GM3 sintasa | = en |
| it | Deficit di GM3 sintasi | Deficit di GM3 sintasi |
| nl | GM3-synthasedeficiëntie | = en |
| pt | Deficiência de GM3 sintetase | = en |
| pl | Niedobór syntazy GM3 | = en |
| cs | ST3GAL5-CDG | Deficit GM3 syntázy |
| uk | Дефіцит GM3-синтази | = en |
| zh | GM3合酶缺陷 | = en |
| tr | GM3 sentaz eksikliği | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609056 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.Y | NTBT | index | validated |
| MONDO | 0018274 | E | validated | |
| GARD | 12059 | 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:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309515Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - 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:171714Amish infantile epilepsy syndrome moved to · inactive
- ORPHA:370938Salt-and-pepper syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ST3GAL5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10872 | ENSG00000115525 | 604402 | 2p11.2 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | 24026681[PMID]_15502825[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370933
- This record as JSON: /data/d/370933.json