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FPLD4
MCID: LPD034
MIFTS: 36
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Lipodystrophy, Familial Partial, Type 4 (FPLD4)
Categories:
Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 4:
Characteristics:Orphanet epidemiological data:60
plin1-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
three families have been reported (last curated april 2011) body habitus becomes apparent in childhood HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Skin diseases Endocrine diseases Cardiovascular diseases Muscle diseases Neuronal diseases
ICD10:
35
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OMIM
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58
Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). (613877)
MalaCards based summary : Lipodystrophy, Familial Partial, Type 4, also known as fpld4, is related to chanarin-dorfman syndrome and acquired generalized lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 4 is PLIN1 (Perilipin 1), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Adipogenesis. Affiliated tissues include skin, ovary and skeletal muscle, and related phenotypes are hypertension and lipoatrophy Disease Ontology : 12 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has material basis in mutation in the PLIN1 gene on chromosome 15q26. UniProtKB/Swiss-Prot : 76 Lipodystrophy, familial partial, 4: A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension. |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 4:60 33 (show all 18)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:613877GenomeRNAi Phenotypes related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:27
MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 4:47
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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 4:42
Skin,
Ovary,
Skeletal Muscle,
Adipocyte
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Genes related to Lipodystrophy, Familial Partial, Type 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 4:6
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Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 4.
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Cellular components related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:
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