Encephalocraniocutaneous lipomatosis

Preferred Label : Encephalocraniocutaneous lipomatosis;

Symbol : ECCL;

CISMeF acronym : ECCL;

Type : Phenotype, molecular basis known;

Description : Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies (Moog et al., 2007).;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by postzygotic somatic mutation of the fibroblast growth factor receptor 1 (FGFR1, 136350.0033);

Neoplasia : Pilocytic astrocytoma (in some patients); Low-grade glioma (in some patients);

Prefixed ID : #613001;

Details

Origin ID

613001;

UMLS CUI

C0406612;

Automatic exact mappings (from CISMeF team)
- Encephalocraniocutaneous lipomatosis [PASCAL descriptor]
- Encephalocraniocutaneous lipomatosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Encephalocraniocutaneous Lipomatosis [NCIt concept]
- Encephalocraniocutaneous lipomatosis [MeSH concept]
- Encephalocraniocutaneous lipomatosis [ORDO Disease]
- Encephalocraniocutaneous lipomatosis (disorder) [SNOMED CT concept]
- encephalocraniocutaneous lipomatosis [MeSH Supplementary Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 1 [OMIM gene]
HPO term(s)
- Abnormal anterior chamber morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Alopecia [HPO term]
- Arachnoid cyst [HPO term]
- Atrial septal defect [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cortical dysplasia [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Eyelid coloboma [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the iris [HPO term]
- Limbal dermoid [HPO term]
- Linear hyperpigmentation [HPO term]
- Lipoma [HPO term]
- Microphthalmia [HPO term]
- Multiple central nervous system lipomas [HPO term]
- Pelvic kidney [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Porencephalic cyst [HPO term]
- Psychomotor retardation [HPO term]
- Sclerocornea [HPO term]
- Seizure [HPO term]
- Somatic mosaicism [HPO term]
- Sporadic [HPO term]
- Subcutaneous lipoma [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Encephalocraniocutaneous lipomatosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalocraniocutaneous Lipomatosis [NCIt concept]
- Encephalocraniocutaneous lipomatosis [ORDO Disease]
- Encephalocraniocutaneous lipomatosis [MeSH concept]
- Encephalocraniocutaneous lipomatosis (disorder) [SNOMED CT concept]
- encephalocraniocutaneous lipomatosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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