ORPHA:199332
Endocrine-cerebro-osteodysplasia syndrome
Synonyms: ECO syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Endocrine-cerebro-osteodysplasia syndrome | ECO syndrome |
| fr | Syndrome endocrino-cérébro-ostéodysplasique | Syndrome ECO |
| de | Endokrin-zerebro-osteodysplastisches Syndrom | ECO-Syndrom · Endokrine Zerebro-Osteodysplasie |
| es | Síndrome endocrino-cerebro-osteodisplásico | Síndrome ECO |
| it | Sindrome endocrino-cerebro-osteodisplastica | Sindrome ECO |
| nl | Endocrien-cerebro-osteodysplasie-syndroom | ECO-syndroom |
| pt | Síndrome endocrino-cérebro-osteodisplasia | |
| pl | Zespół endokrynowo-mózgowo-osteodyplastyczny | Zespół ECO |
| cs | Syndrom endokrinocerebroosteodysplázie | ECO syndrom |
| uk | Синдром ендокринно-цереброостеодисплазії | ЕСО-синдром |
| zh | 内分泌-脑-骨骼发育不良综合征 | ECO综合征 |
| tr | Endokrin-serebro-osteodisplazi sendromu | ECO sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612651 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012980 | E | validated | |
| UMLS | C4509819 | 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:364571Dysostosis with limb and face anomalies as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases - ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CILK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21219 | ENSG00000112144 | 612325 | 6p12.1 | ciliogenesis associated kinase 1 | 19185282[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 19185282[PMID]_27069622[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19185282[PMID]_27069622[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199332
- This record as JSON: /data/d/199332.json