FPLD7
MCID: LPD044
MIFTS: 27

Lipodystrophy, Familial Partial, Type 7 (FPLD7)

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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Aliases & Classifications for Lipodystrophy, Familial Partial, Type 7

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

Name: Lipodystrophy, Familial Partial, Type 7 57 38
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 73 28 5 71
Fpld7 57 73
Lccns 57 73
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome 57
Lipodystrophy, Partial, with Congenital Cataracts and Neurodegeneration 73
Lipodystrophy, Familial Partial, 7 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of lipodystrophy at birth
onset of neurologic disease in early adulthood (in some patients)
variable phenotype and severity


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 7

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 08-Dec-2022)

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 failure to thrive and nystagmus

UniProtKB/Swiss-Prot: 73 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.

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:

30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 30 Very rare (1%) HP:0001508
2 nystagmus 30 Very rare (1%) HP:0000639
3 dysphagia 30 Very rare (1%) HP:0002015
4 hypertension 30 Very rare (1%) HP:0000822
5 short nose 30 Very rare (1%) HP:0003196
6 vomiting 30 Very rare (1%) HP:0002013
7 type i diabetes mellitus 30 Very rare (1%) HP:0100651
8 hypertriglyceridemia 30 Very rare (1%) HP:0002155
9 dry skin 30 Very rare (1%) HP:0000958
10 low-set ears 30 Very rare (1%) HP:0000369
11 lipodystrophy 30 Very rare (1%) HP:0009125
12 spontaneous pneumothorax 30 Very rare (1%) HP:0002108
13 narrow mouth 30 Very rare (1%) HP:0000160
14 sparse scalp hair 30 Very rare (1%) HP:0002209
15 hypercholesterolemia 30 Very rare (1%) HP:0003124
16 dysdiadochokinesis 30 Very rare (1%) HP:0002075
17 large fontanelles 30 Very rare (1%) HP:0000239
18 pulmonary arterial hypertension 30 Very rare (1%) HP:0002092
19 triangular face 30 Very rare (1%) HP:0000325
20 acanthosis nigricans 30 Very rare (1%) HP:0000956
21 babinski sign 30 Very rare (1%) HP:0003487
22 cutis marmorata 30 Very rare (1%) HP:0000965
23 feeding difficulties 30 Very rare (1%) HP:0011968
24 orthostatic hypotension 30 Very rare (1%) HP:0001278
25 pleural effusion 30 Very rare (1%) HP:0002202
26 insulin resistance 30 Very rare (1%) HP:0000855
27 diarrhea 30 Very rare (1%) HP:0002014
28 small for gestational age 30 Very rare (1%) HP:0001518
29 pigmentary retinopathy 30 Very rare (1%) HP:0000580
30 tinnitus 30 Very rare (1%) HP:0000360
31 distal sensory impairment 30 Very rare (1%) HP:0002936
32 thin skin 30 Very rare (1%) HP:0000963
33 developmental cataract 30 Very rare (1%) HP:0000519
34 progeroid facial appearance 30 Very rare (1%) HP:0005328
35 lower limb muscle weakness 30 Very rare (1%) HP:0007340
36 narrow nasal ridge 30 Very rare (1%) HP:0000418
37 recurrent pancreatitis 30 Very rare (1%) HP:0100027
38 sunken cheeks 30 Very rare (1%) HP:0009938
39 pulmonary arteriovenous malformation 30 Very rare (1%) HP:0006548
40 facial wrinkling 30 Very rare (1%) HP:0009762
41 polyuria 30 Very rare (1%) HP:0000103
42 clonus 30 HP:0002169
43 dysmetria 30 HP:0001310
44 gait ataxia 30 HP:0002066
45 loss of subcutaneous adipose tissue in limbs 30 HP:0003635
46 impaired glucose tolerance 30 HP:0040270
47 absence of subcutaneous fat 30 HP:0007485
48 lack of facial subcutaneous fat 30 HP:0005320
49 decreased adipose tissue around neck 30 HP:0005995

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 CAV1

Anatomical Context for Lipodystrophy, Familial Partial, Type 7

Organs/tissues related to Lipodystrophy, Familial Partial, Type 7:

MalaCards : 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. 57 5
25898808 2015
2
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. 57 5
18237401 2008
3
Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. 57 5
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. 62
33509125 2021
6
Lipidological competence centres and networks: Future perspectives to improve healthcare of patients with disorders of lipid metabolism. 62
29096863 2017

Variations for Lipodystrophy, Familial Partial, Type 7

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAV1 NM_001753.5(CAV1):c.400del (p.Ile134fs) DEL Pathogenic
204324 rs879255578 GRCh37: 7:116199204-116199204
GRCh38: 7:116559150-116559150
2 CAV1 NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) SNV Pathogenic
209106 rs797045176 GRCh37: 7:116199228-116199228
GRCh38: 7:116559174-116559174
3 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) DEL Pathogenic
208669 rs797044871 GRCh37: 7:116199282-116199283
GRCh38: 7:116559228-116559229
4 CAV1 NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) SNV Pathogenic
8467 rs121434501 GRCh37: 7:116166660-116166660
GRCh38: 7:116526606-116526606
5 CAV1 NM_001753.5(CAV1):c.368_369del (p.Ser123fs) MICROSAT Pathogenic
1685602 GRCh37: 7:116199167-116199168
GRCh38: 7:116559113-116559114
6 CAV1 NM_001753.5(CAV1):c.30+214A>C SNV Benign
672478 rs1997623 GRCh37: 7:116165360-116165360
GRCh38: 7:116525306-116525306

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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