CAD-CDG
Synonyms: CDG syndrome type Iz · CDG-Iz · CDG1Z · Carbohydrate deficient glycoprotein syndrome type Iz · Congenital disorder of glycosylation type 1z
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare congenital disorder of glycosylation caused by mutations in the <i>CAD</i> gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CAD-CDG | CDG syndrome type Iz · CDG-Iz · CDG1Z · Carbohydrate deficient glycoprotein syndrome type Iz · Congenital disorder of glycosylation type 1z |
| fr | CAD-CDG | Anomalie congénitale de la glycosylation type 1z · Anomalie congénitale de la glycosylation type IZ · CDG-Iz · CDG1Z · Syndrome CDG type Iz · Syndrome des glycoprotéines déficientes en hydrates de carbone type Iz |
| de | CAD-CDG | CDG (Congenital Disorder of Glycosylation) Typ 1Z · CDG-IZ · CDG-Syndrom Typ IZ · CDG1Z · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ IZ |
| es | CAD-CDG | CDG-Iz · CDG1Z · Síndrome CDG tipo Iz · Síndrome de glicoproteínas deficientes en carbohidratos tipo Iz · Trastorno congénito de la glicosilación tipo 1z |
| it | CAD-CDG | Sindrome delle glicoproteine carenti in carboidrati, tipo IZ · CDG-IZ · CDG1Z · Disturbo congenito della glicosilazione, tipo 1Z · Sindrome CDG, tipo IZ |
| nl | CAD-CDG | CDG-Iz · CDG-syndroom type Iz · CDG1Z · Congenitale defecten van de glycosylering type 1z · Congenitale glycosylatiestoornis type 1z · Koolhydraatdeficiënt glycoproteïne-syndroom type Iz |
| pt | CAD-CDG | |
| pl | CAD-CDG | CDG1Z · CDG-Iz · Zespół CDG typu Iz · Wrodzone zaburzenie glikozylacji typu 1z · Zespół obniżonej glikozylacji glikoprotein typu Iz |
| cs | CAD-CDG | CDG syndrom, typ IZ · CDG-IZ · CDG1Z · Carbohydrate deficient glycoprotein syndrom type IZ · Vrozená porucha glykosylace, typ 1Z · Glykoproteinový syndrom deficitu sacharidů typu IZ |
| uk | CAD-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Iz · Синдром CDG, тип Iz · CDG1Z · CDG-Iz · Вроджене порушення глікозилювання типу 1z |
| zh | 先天性糖基化异常疾病 | 碳水化合物缺乏糖蛋白综合征lz型 |
| tr | CAD-CDG | CDG1Z · CDG-Iz · CDG sendromu tip Iz · Tip 1z'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Iz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616457 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0014647 | E | validated | |
| UMLS | C4225320 | E | validated | |
| GARD | 13621 | 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 (4):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAD | Disease-causing germline mutation(s) in | Assessed | HGNC:1424 | ENSG00000084774 | 114010 | 2p23.3 | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | 25678555[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 25678555[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25678555[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/448010
- This record as JSON: /data/d/448010.json