TMEM165-CDG
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k · Congenital disorder of glycosylation type IIk · CDG syndrome type IIk · CDG-IIk · CDG2K
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene <i>TMEM165</i> (4q12).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TMEM165-CDG | Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k · Congenital disorder of glycosylation type IIk · CDG syndrome type IIk · CDG-IIk · CDG2K |
| fr | TMEM165-CDG | Anomalie congénitale de la glycosylation type 2k · Anomalie congénitale de la glycosylation type IIk · CDG-IIk · CDG2K · Syndrome CDG type IIk · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIk |
| de | TMEM165-CDG | CDG (Congenital Disorder of Glycosylation) Typ Iik · CDG-IIk · CDG-Syndrom Typ IIk · CDG2K · Kohlenhydrat-defizientes Glykoprotein-Syndrom Iik · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIk |
| es | TMEM165-CDG | CDG-IIk · CDG2k · Síndrome CDG tipo IIk · Síndrome de glicoproteínas deficientes en carbohidratos tipo Iik · Trastorno congénito de la glicosilación tipo 2k · Trastorno congénito de la glicosilación tipo Iik |
| it | TMEM165-CDG | CDG-IIk · CDG2k · Sindrome CDG, tipo IIk |
| nl | TMEM165-CDG | CDG-IIk · CDG-syndroom type IIk · CDG2K · Congenitale defecten van de glycosylering type 2k · Congenitale defecten van de glycosylering type IIk · Congenitale glycosylatiestoornis type 2k · Congenitale glycosylatiestoornis type IIk · Koolhydraatdeficiënt glycoproteïne syndroom type IIk |
| pt | Síndrome CDG associado ao gene TMEM165 | CDG-IIk · CDG2k · Síndrome CDG tipo 2k · Síndrome CDG tipo IIk |
| pl | TMEM165-CDG | CDG2K · CDG-IIk · Zespół CDG typu IIk · Wrodzone zaburzenie glikozylacji typu 2k · Wrodzone zaburzenie glikozylacji typu IIk · Zespół obniżonej glikozylacji glikoprotein typu IIk |
| cs | CDG syndrom, typ IIk | CDG-IIk · CDG2K |
| uk | TMEM165-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIk · Синдром CDG, тип IIk · CDG2K · CDG-IIk · Вроджене порушення глікозилювання типу 2k · Вроджене порушення глікозилювання типу IIk |
| zh | TMEM165基因型先天性糖基化障碍 | 糖缺乏性糖蛋白综合征IIk型 |
| tr | TMEM165-CDG | CDG2K · CDG-IIk · CDG sendromu tip IIk · Doğumsal glikozilasyon bozukluğu tip 2k · Doğumsal glikozilasyon bozukluğu tip IIk · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIk |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614727 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0013870 | E | validated | |
| UMLS | C3553571 | E | validated | |
| GARD | 12413 | 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: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:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMEM165 | Disease-causing germline mutation(s) in | Assessed | HGNC:30760 | ENSG00000134851 | 614726 | 4q12 | transmembrane protein 165 | 22683087[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 22683087[PMID]_26238249[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22683087[PMID]_26238249[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/314667
- This record as JSON: /data/d/314667.json