ORPHA:157713
Congenital or early infantile CACH syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under CACH syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital or early infantile CACH syndrome | |
| fr | Syndrome CACH congénital ou infantile à début précoce | |
| de | CACH-Syndrom, kongenitales oder früh-infantile Form | |
| es | Síndrome CACH congénito o infantil temprano | |
| it | Sindrome CACH, forma congenita o precoce dell'infanzia | |
| nl | Congenitale of vroege infantiele CACH-syndroom | |
| pt | Síndrome CACH congénito ou da infância precoce | |
| pl | Wrodzony lub wczesnodziecięcy zespół CACH | |
| cs | Vrozený nebo infantilní CACH syndrom | |
| uk | Вроджений або ранній дитячий синдром CACH | |
| zh | 先天性或早期婴儿CACH综合征 | |
| tr | Doğumsal veya erken infantil CACH sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603896 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| MONDO | 0015519 | E | validated | |
| UMLS | C5680650 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:135CACH syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EIF2B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3257 | ENSG00000111361 | 606686 | 12q24.31 | eukaryotic translation initiation factor 2B subunit alpha | 20301435[PMID] |
| EIF2B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3258 | ENSG00000119718 | 606454 | 14q24.3 | eukaryotic translation initiation factor 2B subunit beta | 20301435[PMID] |
| EIF2B3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3259 | ENSG00000070785 | 606273 | 1p34.1 | eukaryotic translation initiation factor 2B subunit gamma | 20301435[PMID] |
| EIF2B4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3260 | ENSG00000115211 | 606687 | 2p23.3 | eukaryotic translation initiation factor 2B subunit delta | 20301435[PMID] |
| EIF2B5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3261 | ENSG00000145191 | 603945 | 3q27.1 | eukaryotic translation initiation factor 2B subunit epsilon | 20301435[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157713
- This record as JSON: /data/d/157713.json