Mandibuloacral dysplasia with type b lipodystrophy

Preferred Label : Mandibuloacral dysplasia with type b lipodystrophy;

Symbol : MADB;

CISMeF acronym : MADB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipodystrophy, type b, associated with mandibuloacral dysplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc metalloproteinase STE24 gene (ZMPSTE24, 606480.0001);

Laboratory abnormalities : Hyperglycemia; Hyperlipidemia; Hyperinsulinemia;

Prefixed ID : #608612;

Details

Origin ID

608612;

UMLS CUI

C1837756;

Automatic exact mappings (from CISMeF team)
- monoaminocarboxydihydroborane [MeSH concept]
- monoaminocarboxydihydroborane [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia with type B lipodystrophy [ICD-11 More detail]
- Mandibuloacral dysplasia with type B lipodystrophy [MeSH concept]
- Mandibuloacral dysplasia with type B lipodystrophy [ORDO Disease]
- mandibuloacral dysplasia with type B lipodystrophy [MeSH Supplementary Concept]
Genes related to phenotype
- Zinc metalloproteinase ste24 [OMIM gene]
HPO term(s)
- Abnormality of hair texture [HPO term]
- Abnormality of the neck [HPO term]
- Acroosteolysis of distal phalanges (feet) [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bird-like facies [HPO term]
- Brittle hair [HPO term]
- Decreased adipose tissue around neck [HPO term]
- Delayed cranial suture closure [HPO term]
- Dental crowding [HPO term]
- Dermal atrophy [HPO term]
- Flexion contracture [HPO term]
- Generalized lipodystrophy [HPO term]
- Glucose intolerance [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- Hyperglycemia [HPO term]
- Hyperinsulinemia [HPO term]
- Hyperlipidemia [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypoplastic clavicles [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Loss of facial adipose tissue [HPO term]
- Loss of subcutaneous adipose tissue in limbs [HPO term]
- Loss of truncal subcutaneous adipose tissue [HPO term]
- Micrognathia [HPO term]
- Mottled pigmentation [HPO term]
- Narrow mouth [HPO term]
- Narrow nasal ridge [HPO term]
- Osteolytic defects of the distal phalanges of the hand [HPO term]
- Premature loss of teeth [HPO term]
- Progressive clavicular acroosteolysis [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Short clavicles [HPO term]
- Short phalanx of finger [HPO term]
- Sparse hair [HPO term]
- Wormian bones [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Mandibuloacral dysplasia [ORDO Disease]
- Mandibuloacral dysplasia with type B lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia with type B lipodystrophy [ORDO Disease]
- Mandibuloacral dysplasia with type B lipodystrophy [MeSH concept]
- mandibuloacral dysplasia with type B lipodystrophy [MeSH Supplementary Concept]

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