TMEM199-CDG
Synonyms: CDG syndrome type IIp · CDG-IIp · CDG2P · Carbohydrate deficient glycoprotein syndrome type IIp · Congenital disorder of glycosylation type 2p · Congenital disorder of glycosylation type IIp
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TMEM199-CDG | CDG syndrome type IIp · CDG-IIp · CDG2P · Carbohydrate deficient glycoprotein syndrome type IIp · Congenital disorder of glycosylation type 2p · Congenital disorder of glycosylation type IIp |
| fr | TMEM199-CDG | Anomalie congénitale de la glycosylation type 2p · Anomalie congénitale de la glycosylation type IIp · CDG-IIp · CDG2P · Syndrome CDG type IIp · Syndrome des glycoprotéines déficientes en hydrates de carbone IIp |
| de | TMEM199-CDG | CDG (Congenital Disorder of Glycosylation) Typ 2p · CDG-IIp · CDG-Syndrom Typ IIp · CDG2P · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIp · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIp |
| es | TMEM199-CDG | CDG-IIp · CDG2P · Síndrome CDG tipo IIp · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIp · Trastorno congénito de la glicosilación tipo 2p · Trastorno congénito de la glicosilación tipo IIp |
| it | TMEM199-CDG | |
| nl | TMEM199-CDG | CDG-IIp · CDG-syndroom type IIp · CDG2P · Congenitale defecten van de glycosylering type 2p · Congenitale defecten van de glycosylering type IIp · Congenitale glycosylatiestoornis type 2p · Congenitale glycosylatiestoornis type IIp |
| pt | TMEM199-CDG | CDG-IIp · CDG2P · Doença congénita da glicosilação tipo 2p · Doença congénita da glicosilação tipo IIp · Síndrome CDG tipo IIp · Síndrome de glicoproteína deficiente em carbohidratos tipo IIp |
| pl | TMEM199-CDG | CDG2P · CDG-IIp · Wrodzone zaburzenia glikozylacji typu 2p · Wrodzone zaburzenia glikozylacji typu IIp · Zespół CDG typu IIp · Zespół obniżonej glikozylacji glikoprotein typu IIp |
| cs | TMEM199-CDG | CDG2P · CDG-IIp · CDG syndrome type IIp · Congenital disorder of glycosylation type 2p · Congenital disorder of glycosylation type IIp · Carbohydrate deficient glycoprotein syndrome type IIp · CDG syndrom typ IIp · Vrozená porucha glykosylace typ 2p · Vrozená porucha glykosylace typ IIp · Glykoproteinový syndrom deficitu sacharidů typu IIp |
| uk | TMEM199-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIp · Синдром CDG, тип IIp · CDG2P · CDG-IIp · Вроджене порушення глікозилювання типу 2p · Вроджене порушення глікозилювання типу IIp |
| zh | TMEM199相关糖基化异常疾病 | 碳水化合物缺乏糖蛋白综合征llp型 |
| tr | TMEM199-CDG | CDG2P · CDG-IIp · CDG sendromu tip IIp · Glikozilasyon Tip 2p'nin doğumsal bozukluğu · Glikozilasyon Tip IIp'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIp |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616829 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0014790 | E | validated | |
| UMLS | C4225190 | 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 (2):
- ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:477811Rare hypercholesterolemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VMA12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18085 | ENSG00000244045 | 616815 | 17q11.2 | vacuolar ATPase assembly factor VMA12 | 26833330[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 19067230[PMID]_26833330[PMID]_29321044[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19067230[PMID]_26833330[PMID]_29321044[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466703
- This record as JSON: /data/d/466703.json