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

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 7

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

Name: Lipodystrophy, Familial Partial, Type 7 58
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 58 76 30 6
Lccns 58 76
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome; Lccns 58
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome 58
Lipodystrophy, Partial, with Congenital Cataracts and Neurodegeneration 76
Lipodystrophy, Partial, Congenital Cataracts and Neurodegeneration 41
Fpld7 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:



Summaries for Lipodystrophy, Familial Partial, Type 7

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.

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:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 clonus 33 HP:0002169
3 hypertriglyceridemia 33 HP:0002155
4 glucose intolerance 33 HP:0001952
5 gait ataxia 33 HP:0002066
6 babinski sign 33 HP:0003487
7 dysmetria 33 HP:0001310
8 lipodystrophy 33 HP:0009125
9 pancreatitis 33 HP:0001733
10 abnormality of the face 33 HP:0000271
11 hypercholesterolemia 33 HP:0003124
12 lower limb muscle weakness 33 HP:0007340
13 orthostatic hypotension 33 HP:0001278
14 insulin resistance 33 HP:0000855
15 distal sensory impairment 33 HP:0002936
16 pigmentary retinopathy 33 HP:0000580
17 loss of subcutaneous adipose tissue in limbs 33 HP:0003635
18 lack of facial subcutaneous fat 33 HP:0005320
19 absence of subcutaneous fat 33 HP:0007485
20 decreased adipose tissue around neck 33 HP:0005995
21 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
pigmentary retinopathy
congenital cataracts
ocular dysmetria

Endocrine Features:
pancreatitis
insulin resistance
impaired glucose tolerance

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

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

Neurologic Central Nervous System:
hyperreflexia
clonus
extensor plantar responses
lower extremity weakness
spastic-ataxic gait
more
Cardiovascular Vascular:
orthostatic hypotension

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

Skin Nails Hair Skin:
taut skin

Clinical features from OMIM:

606721

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 30

Anatomical Context for Lipodystrophy, Familial Partial, Type 7

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

42
Spinal Cord, Skin

Publications for Lipodystrophy, Familial Partial, Type 7

Variations for Lipodystrophy, Familial Partial, Type 7

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV1 NM_001753.4(CAV1): c.400delA (p.Ile134Leufs) deletion Pathogenic rs879255578 GRCh37 Chromosome 7, 116199204: 116199204
2 CAV1 NM_001753.4(CAV1): c.400delA (p.Ile134Leufs) deletion Pathogenic rs879255578 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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