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FPLD5
MCID: LPD030
MIFTS: 36
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Lipodystrophy, Familial Partial, Type 5 (FPLD5)
Categories:
Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 5:
Characteristics:Inheritance:
Lipodystrophy, Familial Partial, Type 5:
Autosomal recessive 57
Cidec-Related Familial Partial Lipodystrophy:
Autosomal recessive 58
Prevelance:
Cidec-Related Familial Partial Lipodystrophy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Cidec-Related Familial Partial Lipodystrophy:
Adolescent 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
one patient has been reported (as of curation date may, 2013) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Liver diseases Neuronal diseases Cardiovascular diseases Muscle diseases
ICD10:
32
Orphanet: 58
Rare skin diseases
Rare endocrine diseases |
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Orphanet: 58 A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. MalaCards based summary: Lipodystrophy, Familial Partial, Type 5, also known as fpld5, is related to lipodystrophy, familial partial, type 1 and adiposis dolorosa. An important gene associated with Lipodystrophy, Familial Partial, Type 5 is CIDEC (Cell Death Inducing DFFA Like Effector C), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. Affiliated tissues include skin, and related phenotypes are lipodystrophy and loss of subcutaneous adipose tissue in limbs UniProtKB/Swiss-Prot: 73 A form of lipodystrophy characterized by loss of subcutaneous adipose tissue affecting limb, femorogluteal and subcutaneous abdominal fat, preservation of visceral, neck and axilliary fat, hepatomegaly, hepatic steatosis and insulin-resistant diabetes. Disease Ontology: 11 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the CIDEC gene on chromosome 3p25. |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 5:58 30 (show all 21)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615238 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:25 (show all 15)
MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 5:45
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Organs/tissues related to Lipodystrophy, Familial Partial, Type 5:
MalaCards :
Skin
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Articles related to Lipodystrophy, Familial Partial, Type 5:
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Genes related to Lipodystrophy, Familial Partial, Type 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 5:5
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Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 5.
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Pathways related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:
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Cellular components related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:
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