FPLD7
MCID: LPD044
MIFTS: 25

Lipodystrophy, Familial Partial, Type 7 (FPLD7)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 7

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 7:

Name: Lipodystrophy, Familial Partial, Type 7 56
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 73 29 6
Fpld7 56 73
Lccns 56 73
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome; Lccns 56
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome 56
Lipodystrophy, Partial, with Congenital Cataracts and Neurodegeneration 73
Lipodystrophy, Partial, Congenital Cataracts and Neurodegeneration 39
Lipodystrophy, Familial Partial, 7 73

Characteristics:

OMIM:

56
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:



Summaries for Lipodystrophy, Familial Partial, Type 7

UniProtKB/Swiss-Prot : 73 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, skin and adipocyte, and related phenotypes are hypertriglyceridemia and nystagmus

OMIM : 56 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)

Related Diseases for Lipodystrophy, Familial Partial, Type 7

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 7

Human phenotypes related to Lipodystrophy, Familial Partial, Type 7:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 31 HP:0002155
2 nystagmus 31 HP:0000639
3 lipodystrophy 31 HP:0009125
4 abnormality of the face 31 HP:0000271
5 clonus 31 HP:0002169
6 hypercholesterolemia 31 HP:0003124
7 dysmetria 31 HP:0001310
8 gait ataxia 31 HP:0002066
9 babinski sign 31 HP:0003487
10 orthostatic hypotension 31 HP:0001278
11 insulin resistance 31 HP:0000855
12 pigmentary retinopathy 31 HP:0000580
13 pancreatitis 31 HP:0001733
14 distal sensory impairment 31 HP:0002936
15 developmental cataract 31 HP:0000519
16 loss of subcutaneous adipose tissue in limbs 31 HP:0003635
17 lower limb muscle weakness 31 HP:0007340
18 absence of subcutaneous fat 31 HP:0007485
19 lack of facial subcutaneous fat 31 HP:0005320
20 impaired glucose tolerance 31 HP:0040270
21 decreased adipose tissue around neck 31 HP:0005995

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
pigmentary retinopathy
congenital cataracts
ocular dysmetria

Endocrine Features:
insulin resistance
pancreatitis
impaired glucose tolerance

Laboratory Abnormalities:
increased serum triglycerides
increased total cholesterol
increased vitamin e (alpha-tocopherol) levels

Neurologic Central Nervous System:
hyperreflexia (in some patients)
extensor plantar responses (in some patients)
spastic-ataxic gait (in some patients)
lower extremity weakness (in some patients)
decreased distal sensation (in some patients)
more
Cardiovascular Vascular:
orthostatic hypotension

Muscle Soft Tissue:
absence of subcutaneous fat over entire body except buttocks, hips, and thighs

Head And Neck Face:
progeroid appearance
lack of facial fat
'hatchet' face

Skin Nails Hair Skin:
taut skin

Clinical features from OMIM:

606721

UMLS symptoms related to Lipodystrophy, Familial Partial, Type 7:


clonus

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 7

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Familial Partial, Type 7

Genetic Tests for Lipodystrophy, Familial Partial, Type 7

Genetic tests related to Lipodystrophy, Familial Partial, Type 7:

# Genetic test Affiliating Genes
1 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 29 CAV1

Anatomical Context for Lipodystrophy, Familial Partial, Type 7

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 7:

40
Spinal Cord, Skin, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 7

Articles related to Lipodystrophy, Familial Partial, Type 7:

# Title Authors PMID Year
1
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 56 6
25898808 2015
2
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. 6 56
18237401 2008
3
Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. 56 6
11739396 2002
4
Familial lipodystrophy associated with neurodegeneration and congenital cataracts. 56
11781404 2002
5
Lipidological competence centres and networks: Future perspectives to improve healthcare of patients with disorders of lipid metabolism. 61
29096863 2017

Variations for Lipodystrophy, Familial Partial, Type 7

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 7:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAV1 NM_001753.5(CAV1):c.400del (p.Ile134fs)deletion Pathogenic 204324 rs879255578 7:116199204-116199204 7:116559150-116559150
2 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)deletion Pathogenic 208669 rs797044871 7:116199282-116199283 7:116559228-116559229
3 CAV1 NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)SNV Pathogenic 209106 rs797045176 7:116199228-116199228 7:116559174-116559174

Expression for Lipodystrophy, Familial Partial, Type 7

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 7.

Pathways for Lipodystrophy, Familial Partial, Type 7

GO Terms for Lipodystrophy, Familial Partial, Type 7

Sources for Lipodystrophy, Familial Partial, Type 7

3 CDC
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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