MCID: PRT097
MIFTS: 20

Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Partial Lipodystrophy, Congenital Cataracts, and...

MalaCards integrated aliases for Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome:

Name: Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 57 75 29 6 73
Lipodystrophy, Partial, with Congenital Cataracts and Neurodegeneration 57 75
Lccns 57 75
Lipodystrophy, Partial, Congenital Cataracts and Neurodegeneration 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
one family has been reported (last curated april 2014)
onset of neurologic disease in early adulthood


HPO:

32
partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Partial Lipodystrophy, Congenital Cataracts, and...

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome, also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration, is related to lipodystrophy, congenital generalized, type 3, and has symptoms including clonus An important gene associated with Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome is CAV1 (Caveolin 1). Affiliated tissues include spinal cord and skin, and related phenotypes are nystagmus and clonus

Description from OMIM: 606721

Related Diseases for Partial Lipodystrophy, Congenital Cataracts, and...

Diseases related to Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 3 11.3

Symptoms & Phenotypes for Partial Lipodystrophy, Congenital Cataracts, and...

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 clonus 32 HP:0002169
3 hypertriglyceridemia 32 HP:0002155
4 glucose intolerance 32 HP:0000833
5 gait ataxia 32 HP:0002066
6 babinski sign 32 HP:0003487
7 dysmetria 32 HP:0001310
8 pancreatitis 32 HP:0001733
9 abnormality of the face 32 HP:0000271
10 hypercholesterolemia 32 HP:0003124
11 orthostatic hypotension 32 HP:0001278
12 insulin resistance 32 HP:0000855
13 lower limb muscle weakness 32 HP:0007340
14 lipodystrophy 32 HP:0009125
15 distal sensory impairment 32 HP:0002936
16 pigmentary retinopathy 32 HP:0000580
17 congenital cataract 32 HP:0000519
18 loss of subcutaneous adipose tissue in limbs 32 HP:0003635
19 lack of facial subcutaneous fat 32 HP:0005320
20 absence of subcutaneous fat 32 HP:0007485
21 decreased adipose tissue around neck 32 HP:0005995

UMLS symptoms related to Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome:


clonus

Drugs & Therapeutics for Partial Lipodystrophy, Congenital Cataracts, and...

Search Clinical Trials , NIH Clinical Center for Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome

Genetic Tests for Partial Lipodystrophy, Congenital Cataracts, and...

Genetic tests related to Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome:

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

Anatomical Context for Partial Lipodystrophy, Congenital Cataracts, and...

MalaCards organs/tissues related to Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome:

41
Spinal Cord, Skin

Publications for Partial Lipodystrophy, Congenital Cataracts, and...

Variations for Partial Lipodystrophy, Congenital Cataracts, and...

ClinVar genetic disease variations for Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome:

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 Partial Lipodystrophy, Congenital Cataracts, and...

Search GEO for disease gene expression data for Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome.

Pathways for Partial Lipodystrophy, Congenital Cataracts, and...

GO Terms for Partial Lipodystrophy, Congenital Cataracts, and...

Sources for Partial Lipodystrophy, Congenital Cataracts, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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