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MCID: MND021
MIFTS: 44
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Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Categories:
Genetic diseases, Metabolic diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:
Characteristics:Orphanet epidemiological data:59
mandibular hypoplasia-deafness-progeroid syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset of lipodystrophy in early childhood onset of hearing loss in first or second decade HPO:32
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Ear diseases Skin diseases
ICD10:
34
33
Orphanet: 59
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
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UniProtKB/Swiss-Prot
:
75
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life.
MalaCards based summary : Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome, also known as lipodystrophy, is related to lipodystrophy, familial partial, type 2 and partial lipodystrophy, and has symptoms including decreased adipose tissue An important gene associated with Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome is POLD1 (DNA Polymerase Delta 1, Catalytic Subunit), and among its related pathways/superpathways are Glucose / Energy Metabolism and Type II diabetes mellitus. Affiliated tissues include skin, testes and liver, and related phenotypes are cryptorchidism and hypogonadism OMIM : 57 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). (615381) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615381Human phenotypes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:32 (show all 23)
UMLS symptoms related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:decreased adipose tissue MGI Mouse Phenotypes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:46 (show all 13)
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Inferred drug relations via UMLS 73 / NDF-RT 51 :Cochrane evidence based reviews: lipodystrophy |
MalaCards organs/tissues related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:41
Skin,
Testes,
Liver,
Eye
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Articles related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:
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Genes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:6
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Search
GEO
for disease gene expression data for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome.
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Biological processes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:
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