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FPLD7
MCID: LPD044
MIFTS: 25
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Lipodystrophy, Familial Partial, Type 7 (FPLD7)
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 7:
Name: Lipodystrophy, Familial Partial, Type 7
57
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset of lipodystrophy at birth onset of neurologic disease in early adulthood (in some patients) variable phenotype and severity HPO:31
lipodystrophy, familial partial, type 7:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Neuronal diseases Cardiovascular diseases Muscle diseases |
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UniProtKB/Swiss-Prot :
72
Lipodystrophy, familial partial, 7: A form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. Affected individuals manifest a gradual loss of subcutaneous adipose tissue in various parts of the body, accompanied by an accumulation of adipose tissue in the face and neck in some cases causing a double chin, fat neck, or cushingoid appearance. FPLD7 is an autosomal dominant form with a variable phenotype. Some patients manifest congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction.
MalaCards based summary : Lipodystrophy, Familial Partial, Type 7, is also known as partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, and has symptoms including clonus An important gene associated with Lipodystrophy, Familial Partial, Type 7 is CAV1 (Caveolin 1). Affiliated tissues include spinal cord and adipocyte, and related phenotypes are clonus and nystagmus OMIM® : 57 Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. (606721) (Updated 20-May-2021) |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 7:31 (show all 21)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:606721 (Updated 20-May-2021)UMLS symptoms related to Lipodystrophy, Familial Partial, Type 7:clonus |
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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 7:40
Spinal Cord,
Adipocyte
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Articles related to Lipodystrophy, Familial Partial, Type 7:
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ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 7:6
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Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 7.
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