ORPHA:238459
SLC35A1-CDG
Synonyms: CMP-sialic acid transporter deficiency · Carbohydrate deficient glycoprotein syndrome type IIf · Congenital disorder of glycosylation type 2f · Congenital disorder of glycosylation type IIf · CDG syndrome type IIf · CDG-IIf · CDG2F
- Type
- Disease
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Infancy, Neonatal
- Status
- active
SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC35A1-CDG | CMP-sialic acid transporter deficiency · Carbohydrate deficient glycoprotein syndrome type IIf · Congenital disorder of glycosylation type 2f · Congenital disorder of glycosylation type IIf · CDG syndrome type IIf · CDG-IIf · CDG2F |
| fr | SLC35A1-CDG | Anomalie congénitale de la glycosylation type 2f · Anomalie congénitale de la glycosylation type IIf · CDG-IIf · CDG2F · Déficit en transporteur du CMP-acide sialique · Syndrome CDG type IIf · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIf |
| de | SLC35A1-CDG | CDG (Congenital Disorder of Glycosylation) Typ IIf · CDG-IIf · CDG-Syndrom Typ IIf · CDG2F · CMP-Sialinsäure-Ttransporter-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIf · Kongenitaler Defekt der Glycoproteinbiosynthese Typ 2f |
| es | SLC35A1-CDG | CDG-IIf · CDG2F · Deficiencia del transportador del CMP-ácido siálico · Síndrome CDG tipo IIf · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIf · Trastorno congénito de la glicosilación tipo 2f · Trastorno congénito de la glicosilación tipo IIf |
| it | SLC35A1-CDG | CDG-IIf · CDG2F · Deficit del trasportatore dell'acido CMP-sialico · Disturbo congenito della glicosilazione, tipo 2f · Disturbo congenito della glicosilazione, tipo IIf · Sindrome CDG, tipo IIf · Sindrome delle glicoproteine carenti in carboidrati, tipo IIf |
| nl | SLC35A1-CDG | CDG-IIf · CDG-syndroom type IIf · CDG2F · CMP-sialinezuurtransporterdeficiëntie · Congenitale defecten van de glycosylering type 2f · Congenitale defecten van de glycosylering type IIf · Congenitale glycosylatiestoornis type 2f · Congenitale glycosylatiestoornis type IIf · Koolhydraatdeficiënt glycoproteïne syndroom type IIf |
| pt | Síndrome de CDG tipo IIf | |
| pl | SLC35A1-CDG | CDG2F · CDG-IIf · Niedobór transportera kwasu sialowego-CMP · Wrodzone zaburzenie glikozylacji typu 2f · Wrodzone zaburzenie glikozylacji typu IIf · Zespół CDG typu IIf · Zespół obniżonej glikozylacji glikoprotein typu IIf |
| cs | SLC35A1-CDG | CDG syndrom, typ IIf · CDG-IIf · CDG2F · Deficit transportéru CMP-kyseliny sialové · Syndrom karbohydrátového deficitu glykoproteinu, typ IIf · Vrozené poruchy glykosylace, typ 2f |
| uk | SLC35A1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIf · Синдром CDG, тип IIf · CDG2F · CDG-IIf · Дефіцит транспортера CMP-сіалової кислоти · Вроджене порушення глікозилювання типу 2f · Вроджене порушення глікозилювання типу IIf |
| zh | SLC35A1基因型先天性糖基化障碍 | 碳水化合物缺乏性糖蛋白综合征IIF型 |
| tr | SLC35A1-CDG | CDG2F · CDG-IIf · CDG sendromu tip IIf · CMP-sialik asit taşıyıcı eksikliği · Tip 2f'nin doğumsal bozukluğu · Tip IIf'nin doğumsal glikozilasyon bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIf |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603585 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0011342 | E | validated | |
| MeSH | C567040 | E | validated | |
| UMLS | C1970344 | E | validated | |
| GARD | 12409 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371207Congenital disorder of glycosylation with nephropathy as a major feature
rare genetic diseases; rare renal diseases - ORPHA:309526Disorder of multiple glycosylation
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC35A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11021 | ENSG00000164414 | 605634 | 6q15 | solute carrier family 35 member A1 | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 11157507[PMID]_23873973[PMID]_28856833[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11157507[PMID]_23873973[PMID]_28856833[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.
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HPO phenotypes
13 annotations · validated 2017-02-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0012143 | Abnormal megakaryocyte morphology | |
| HP:0011883 | Abnormal platelet granules | |
| HP:0100658 | Cellulitis | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001902 | Giant platelets | |
| HP:0012418 | Hypoxemia | |
| HP:0002090 | Pneumonia | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0040223 | Pulmonary hemorrhage | |
| HP:0002098 | Respiratory distress | |
| HP:0001933 | Subcutaneous hemorrhage | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 11157507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238459
- This record as JSON: /data/d/238459.json