ORPHA:300536
DDOST-CDG
Synonyms: CDG syndrome type Ir · CDG-Ir · CDG1R · Carbohydrate deficient glycoprotein syndrome type Ir · Congenital disorder of glycosylation type 1r · Congenital disorder of glycosylation type Ir
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene <i> DDOST </i> (1p36.1).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DDOST-CDG | CDG syndrome type Ir · CDG-Ir · CDG1R · Carbohydrate deficient glycoprotein syndrome type Ir · Congenital disorder of glycosylation type 1r · Congenital disorder of glycosylation type Ir |
| fr | DDOST-CDG | Anomalie congénitale de la glycosylation type 1r · Anomalie congénitale de la glycosylation type Ir · CDG-Ir · CDG1R · Syndrome CDG type Ir · Syndrome des glycoprotéines déficientes en hydrates de carbone type IR |
| de | DDOST-CDG | CDG (Congenital Disorder of Glycosylation) Typ 1r · CDG-Ir · CDG-Syndrom Typ Ir · CDG1R · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ir · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ir |
| es | DDOST-CDG | CDG-Ir · CDG1R · Síndrome CDG tipo Ir · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ir · Trastorno congénito de la glicosilación tipo 1R · Trastorno congénito de la glicosilación tipo IR |
| it | DDOST-CDG | CDG-Ir · CDG1R · Disturbo congenito della glicosilazione, tipo 1r · Disturbo congenito della glicosilazione, tipo Ir · Sindrome CDG, tipo Ir · Sindrome delle glicoproteine carenti in carboidrati, tipo Ir |
| nl | DDOST-CDG | CDG-Ir · CDG-syndroom type Ir · CDG1R · Congenitale defecten van de glycosylering type Ir · Congenitale glycosylatiestoornis type 1r · Congenitale glycosylatiestoornis type Ir · Koolhydraatdeficiënt glycoproteïne syndroom type Ir |
| pt | SíndromeCDG, tipo IR | |
| pl | DDOST-CDG | CDG1R · CDG-Ir · Wrodzone zaburzenie glikozylacji typu 1r · Wrodzone zaburzenie glikozylacji typu Ir · Zespół CDG typu Ir · Zespół obniżonej glikozylacji glikoprotein typu Ir |
| cs | Vrozená porucha glykosylace, typ 1r | CDG syndrom, typ Ir · CDG-Ir · CDG1R · Syndrom deficitu karbohydrátového glykoproteinu, typ Ir · DDOST-CDG · Vrozená porucha glykosylace, typ Ir |
| uk | DDOST-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ir · Синдром CDG, тип Ir · CDG1R · CDG-Ir · Вроджене порушення глікозилювання типу 1r · Вроджене порушення глікозилювання типу Ir |
| zh | DDOST-先天性糖基化障碍 | 碳水化合物缺乏型糖蛋白综合症Ir型 |
| tr | DDOST-CDG | CDG1R · CDG-Ir · CDG sendromu tip Ir · Doğumsal glikozilasyon bozukluğu tip 1r · Doğumsal glikozilasyon bozukluğu tip Ir · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ir |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614507 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0013789 | E | validated | |
| UMLS | C3281084 | E | validated | |
| GARD | 12398 | 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:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309347Disorder of protein N-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 |
|---|---|---|---|---|---|---|---|---|
| DDOST | Disease-causing germline mutation(s) in | Assessed | HGNC:2728 | ENSG00000244038 | 602202 | 1p36.12 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | 22305527[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 22305527[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22305527[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
23 annotations · validated 2017-08-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0003429 | CNS hypomyelination | |
| HP:0002019 | Constipation | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000565 | Esotropia | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001397 | Hepatic steatosis | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0007301 | Oromotor apraxia | |
| HP:0000938 | Osteopenia | |
| HP:0410018 | Recurrent ear infections | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001337 | Tremor | |
| HP:0003642 | Type I transferrin isoform profile | |
| Occasional (29-5%) | ||
| HP:0000958 | Dry skin | |
| HP:0009125 | Lipodystrophy | |
| Very rare (<4-1%) | ||
| HP:0012593 | Nephrotic range proteinuria | |
| HP:0000832 | Primary hypothyroidism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19765534[PMID]_22305527[PMID]_17584079[PMID]_23730680[PMID]_28726068[PMID]_25192513[PMID]_24555185[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300536
- This record as JSON: /data/d/300536.json