Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

Preferred Label : Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome;

Symbol : MDPL;

CISMeF acronym : MDPL;

Type : Phenotype, molecular basis known;

Description : Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the polymerase (DNA-directed), delta 1, catalytic subunit gene (POLD1, 174761.0003);

Laboratory abnormalities : Abnormal liver function tests; Hypertriglyceridemia;

Prefixed ID : #615381;

Details

Origin ID

615381;

UMLS CUI

C3715192;

Automatic exact mappings (from CISMeF team)
- POLD1 wt Allele [NCIt concept]
- paralaminar part of medial dorsal nucleus [UBERON concept]
CISMeF manual mappings
- Mandibular hypoplasia, deafness, progeroid syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome [ORDO Disease]
Genes related to phenotype
- Polymerase (dna-directed), delta 1, catalytic subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Dental crowding [HPO term]
- Dermal atrophy [HPO term]
- Diabetes mellitus [HPO term]
- Elevated hepatic transaminase [HPO term]
- Flexion contracture [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- High pitched voice [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypogonadism [HPO term]
- Insulin resistance [HPO term]
- Kyphosis [HPO term]
- Lack of skin elasticity [HPO term]
- Lipodystrophy [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Osteoporosis [HPO term]
- Proptosis [HPO term]
- Scleroderma [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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