|
LCCNS
MCID: LPD044
MIFTS: 25
|
Lipodystrophy, Familial Partial, Type 7 (LCCNS)
Categories:
Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 7:
Name: Lipodystrophy, Familial Partial, Type 7
58
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable severity one family has been reported (last curated april 2014) onset of neurologic disease in early adulthood HPO:33
lipodystrophy, familial partial, type 7:
Onset and clinical course variable expressivity Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Skin diseases Cardiovascular diseases Endocrine diseases Muscle diseases |
|
OMIM
:
58
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)
MalaCards based summary : Lipodystrophy, Familial Partial, Type 7, is also known as partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome. An important gene associated with Lipodystrophy, Familial Partial, Type 7 is CAV1 (Caveolin 1). Affiliated tissues include spinal cord and skin, and related phenotypes are nystagmus and clonus UniProtKB/Swiss-Prot : 76 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome: A form of familial partial lipodystrophy associated with congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction. |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 7:33 (show all 21)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:606721 |
|
|
Genetic tests related to Lipodystrophy, Familial Partial, Type 7:
|
MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 7:42
Spinal Cord,
Skin
|
ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 7:6
|
|
Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 7.
|
|
|
|