Mucoepithelial dysplasia, hereditary

Preferred Label : Mucoepithelial dysplasia, hereditary;

Symbol : HMD;

CISMeF acronym : HMD;

Type : Phenotype, molecular basis known;

Description : Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis (review by Boralevi et al., 2005).;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Eosinophilia, mild;

Prefixed ID : #158310;

Details

Origin ID

158310;

UMLS CUI

C1274795;

Automatic exact mappings (from CISMeF team)
- Hereditary mucoepithelial dysplasia [PASCAL descriptor]
- Hereditary mucoepithelial dysplasia [ICD-11 More detail]
- Oxymetholone [NCIt concept]
Currated CISMeF NLP mapping
- Hereditary mucoepithelial dysplasia [ORDO Disease]
- Hereditary mucoepithelial dysplasia (disorder) [SNOMED CT concept]
- Urban Schosser Spohn syndrome [MeSH concept]
- urban schosser spohn syndrome [MeSH Supplementary Concept]
False automatic mappings
- Heard Island and McDonald Islands [NCIt concept]
Genes related to phenotype
- Sterol regulatory element-binding transcription factor 1 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Chronic diarrhea [HPO term]
- Chronic monilial nail infection [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Coarse hair [HPO term]
- Congenital onset [HPO term]
- Cor pulmonale [HPO term]
- Corneal neovascularization [HPO term]
- Eosinophilia [HPO term]
- Epiphora [HPO term]
- Esotropia [HPO term]
- Fibrocystic lung disease [HPO term]
- Hematuria [HPO term]
- Keratoconjunctivitis [HPO term]
- Melena [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Nystagmus [HPO term]
- Opacification of the corneal stroma [HPO term]
- Photophobia [HPO term]
- Pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Rhinorrhea [HPO term]
ORDO concept(s)
- Hereditary mucoepithelial dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary mucoepithelial dysplasia [ORDO Disease]
- Hereditary mucoepithelial dysplasia (disorder) [SNOMED CT concept]
- Urban Schosser Spohn syndrome [MeSH concept]
- urban schosser spohn syndrome [MeSH Supplementary Concept]

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