Gapo syndrome - CISMeF

Preferred Label : Gapo syndrome;

Symbol : GAPOS;

CISMeF acronym : GAPOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Growth retardation, alopecia, pseudoanodontia, and optic atrophy;

Description : The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder.;

Inheritance : Autosomal recessive;

Molecular basis : Cause by mutation in the anthrax toxin receptor 1 gene (ANTXR1, 606410.0002);

Laboratory abnormalities : Amorphous hyaline substance (skin biopsy and visceral organs); Widespread interstitial fibrosis (visceral organs);

Prefixed ID : #230740;

Details

Origin ID

230740;

UMLS CUI

C0406723;

Automatic exact mappings (from CISMeF team)
- Odontotrichomelic syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- GAPO syndrome [ICD-11 More detail]
- GAPO syndrome [DO Concept]
- GAPO syndrome [ORDO Disease]
- Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy [MeSH concept]
- Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) [SNOMED CT concept]
- growth retardation, alopecia, pseudoanodontia and optic atrophy [MeSH Supplementary Concept]
Genes related to phenotype
- Anthrax toxin receptor 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the dentition [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Breast hypoplasia [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- EEG abnormality [HPO term]
- Epidermoid cyst [HPO term]
- Eruption failure [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Glaucoma [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- High, narrow palate [HPO term]
- Histological abnormality of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nipples [HPO term]
- Hypotrichosis [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Keratoconus [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Nail dysplasia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Photophobia [HPO term]
- Prominent scalp veins [HPO term]
- Protruding ear [HPO term]
- Redundant skin [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe hypotrichosis [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Thick lower lip vermilion [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- Umbilical hernia [HPO term]
- Ventriculomegaly [HPO term]
- Wide anterior fontanel [HPO term]
- Widespread interstitial fibrosis [HPO term]
ORDO concept(s)
- GAPO syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GAPO syndrome [ORDO Disease]
- Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy [MeSH concept]
- Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) [SNOMED CT concept]
- Odontotrichomelic syndrome (disorder) [SNOMED CT concept]
- growth retardation, alopecia, pseudoanodontia and optic atrophy [MeSH Supplementary Concept]

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