Mandibuloacral dysplasia with type a lipodystrophy

Preferred Label : Mandibuloacral dysplasia with type a lipodystrophy;

Symbol : MADA;

CISMeF acronym : MADA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipodystrophy, type a, associated with mandibuloacral dysplasia; Craniomandibular dermatodysostosis;

Included titles and symbols : Mandibuloacral dysplasia with type a lipodystrophy, atypical;

Description : Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0021);

Laboratory abnormalities : Hyperglycemia; Hyperlipidemia; Hyperinsulinemia;

Prefixed ID : #248370;

Details

Origin ID

248370;

UMLS CUI

C5399785;

Automatic exact mappings (from CISMeF team)
- LMNA wt Allele [NCIt concept]
- adenosine monophosphate deaminase 1 [ORDO Gene]
- adenosine monophosphate deaminase 1 [HGNC gene]
- lamin A/C [ORDO Gene]
- lamin A/C [HGNC gene]
Currated CISMeF NLP mapping
- Mandibuloacral Dysplasia with Type A Lipodystrophy [NCIt concept]
- Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia with type A lipodystrophy [ICD-11 More detail]
- Mandibuloacral dysplasia with type A lipodystrophy [MeSH concept]
- Mandibuloacral dysplasia with type A lipodystrophy [ORDO Disease]
- mandibuloacral dysplasia with type A lipodystrophy [MeSH Supplementary Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Acroosteolysis of distal phalanges (feet) [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bird-like facies [HPO term]
- Calcinosis [HPO term]
- Delayed cranial suture closure [HPO term]
- Dental crowding [HPO term]
- Dermal atrophy [HPO term]
- Flexion contracture [HPO term]
- Full cheeks [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperglycemia [HPO term]
- Hyperinsulinemia [HPO term]
- Hyperlipidemia [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypoplastic clavicles [HPO term]
- Impaired glucose tolerance [HPO term]
- Increased adipose tissue around the neck [HPO term]
- Increased facial adipose tissue [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Joint stiffness [HPO term]
- Juvenile onset [HPO term]
- Lipodystrophy [HPO term]
- Loss of subcutaneous adipose tissue in limbs [HPO term]
- Micrognathia [HPO term]
- Mottled pigmentation [HPO term]
- Narrow nasal ridge [HPO term]
- Osteolytic defects of the distal phalanges of the hand [HPO term]
- Postnatal growth retardation [HPO term]
- Premature loss of teeth [HPO term]
- Progressive clavicular acroosteolysis [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Short clavicles [HPO term]
- Sparse scalp hair [HPO term]
- Wormian bones [HPO term]
- blonde, sparse scalp hair [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Mandibuloacral dysplasia [ORDO Disease]
- Mandibuloacral dysplasia with type A lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibuloacral Dysplasia with Type A Lipodystrophy [NCIt concept]
- Mandibuloacral dysostosis (disorder) [SNOMED CT concept]
- Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia [ORDO Disease]
- Mandibuloacral dysplasia with type A lipodystrophy [MeSH concept]
- Mandibuloacral dysplasia with type A lipodystrophy [ORDO Disease]
- Mandibuloacral dysplasia with type A lipodystrophy [ICD-11 More detail]
- mandibuloacral dysplasia with type A lipodystrophy [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Mandibuloacral dysostosis (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients