Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome

Preferred Label : Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome;

Symbol : CHIME;

CISMeF acronym : CHIME; GPIBD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GPIBD5; Chime syndrome; Zunich neuroectodermal syndrome; Glycosylphosphatidylinositol biosynthesis defect 5; Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome;

Description : Zunich neuroectodermal syndrome is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol glycan, class L gene (PIGL, 605947.0001).;

Neoplasia : Acute lymphoblastic leukemia (in 1 patient);

Prefixed ID : #280000;

Détails

Origin ID

280000;

UMLS CUI

C1848392;

Automatic exact mappings (from CISMeF team)
- Blood chemistry (procedure) [SNOMED CT concept]
- Camisole (physical object) [SNOMED CT concept]
- Chemical [UMLS semantic type]
- Chemistry [DeCS]
- Chemistry [NCIt concept]
- Chemocautery (procedure) [SNOMED CT concept]
- Chemosis of conjunctiva (disorder) [SNOMED CT concept]
- Chemosurgery (procedure) [SNOMED CT concept]
- Chital (substance) [SNOMED CT concept]
- Patchy (qualifier value) [SNOMED CT concept]
- chemistry [MeSH concept]
- chemistry [MeSH Descriptor]
Currated CISMeF NLP mapping
- CHIME syndrome [DO Concept]
- CHIME syndrome [ORDO Disease]
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) [SNOMED CT concept]
- Zunich neuroectodermal syndrome [MeSH concept]
- Zunich-Kaye syndrome [ICD-11 More detail]
- zunich neuroectodermal syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class L protein [OMIM gene]
HPO term(s)
- Acute lymphoblastic leukemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad 2nd toe [HPO term]
- Broad-based gait [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Contracture of the proximal interphalangeal joint of the 5th finger [HPO term]
- Depressed nasal bridge [HPO term]
- Duplicated collecting system [HPO term]
- Epicanthus [HPO term]
- Fine hair [HPO term]
- Flat, broad nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Growth abnormality [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nipples [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Large for gestational age [HPO term]
- Large hands [HPO term]
- Long foot [HPO term]
- Low-set nipples [HPO term]
- Overfolded helix [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Plagiocephaly [HPO term]
- Prominent forehead [HPO term]
- Retinal coloboma [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Sparse hair [HPO term]
- Tetralogy of Fallot [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick vermilion border [HPO term]
- Transposition of the great arteries [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Ventricular septal defect [HPO term]
- Violent behavior [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
- peripheral pulmonary stenosis [HPO term]
ORDO concept(s)
- CHIME syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHIME syndrome [ORDO Disease]
- CHIME syndrome [DO Concept]
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) [SNOMED CT concept]
- Zunich neuroectodermal syndrome [MeSH concept]
- Zunich-Kaye syndrome [ICD-11 More detail]
- zunich neuroectodermal syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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