FPLD7
MCID: LPD044
MIFTS: 25

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

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 7

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

Name: Lipodystrophy, Familial Partial, Type 7 57
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 72 29 6 70
Fpld7 57 72
Lccns 57 72
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome; Lccns 57
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome 57
Lipodystrophy, Partial, with Congenital Cataracts and Neurodegeneration 72
Lipodystrophy, Partial, Congenital Cataracts and Neurodegeneration 39
Lipodystrophy, Familial Partial, 7 72

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:



Summaries for Lipodystrophy, Familial Partial, Type 7

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)

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 clonus 31 HP:0002169
2 nystagmus 31 HP:0000639
3 hypertriglyceridemia 31 HP:0002155
4 lipodystrophy 31 HP:0009125
5 abnormality of the face 31 HP:0000271
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 absence of subcutaneous fat 31 HP:0007485
18 lower limb muscle weakness 31 HP:0007340
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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, 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. 6 57
25898808 2015
2
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. 57 6
18237401 2008
3
Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. 57 6
11739396 2002
4
Familial lipodystrophy associated with neurodegeneration and congenital cataracts. 57
11781404 2002
5
Two kinds of rare light chain cast nephropathy caused by multiple myeloma: case reports and literature review. 61
33509125 2021
6
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 Position
1 CAV1 NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) SNV Pathogenic 209106 rs797045176 GRCh37: 7:116199228-116199228
GRCh38: 7:116559174-116559174
2 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) Deletion Pathogenic 208669 rs797044871 GRCh37: 7:116199282-116199283
GRCh38: 7:116559228-116559229
3 CAV1 NM_001753.5(CAV1):c.400del (p.Ile134fs) Deletion Pathogenic 204324 rs879255578 GRCh37: 7:116199204-116199204
GRCh38: 7:116559150-116559150

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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