FPLD5
MCID: LPD030
MIFTS: 25

Lipodystrophy, Familial Partial, Type 5 (FPLD5)

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 5

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 5:

Name: Lipodystrophy, Familial Partial, Type 5 58 54 13 41 74
Fpld5 58 12 54 60 76
Cidec-Related Fpld 12 54 60
Familial Partial Lipodystrophy Associated with Cidec Mutations 12 76
Cidec-Related Familial Partial Lipodystrophy 54 60
Familial Partial Lipodystrophy 5 30 6
Lipodystrophy, Familial Partial, Associated with Cidec Mutations 58
Familial Partial Lipodystrophy Type 5 12
Lipodystrophy, Familial Partial, 5 76

Characteristics:

Orphanet epidemiological data:

60
cidec-related familial partial lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (as of curation date may, 2013)


HPO:

33
lipodystrophy, familial partial, type 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070203
OMIM 58 615238
MeSH 45 D052496
ICD10 via Orphanet 35 E88.1
Orphanet 60 ORPHA435651
UMLS 74 C3808940

Summaries for Lipodystrophy, Familial Partial, Type 5

UniProtKB/Swiss-Prot : 76 Lipodystrophy, familial partial, 5: A form of lipodystrophy characterized by loss of subcutaneous adipose tissue affecting limb, femorogluteal and subcutaneous abdominal fat, preservation of visceral, neck and axilliary fat, hepatomegaly, hepatic steatosis and insulin-resistant diabetes.

MalaCards based summary : Lipodystrophy, Familial Partial, Type 5, is also known as fpld5. An important gene associated with Lipodystrophy, Familial Partial, Type 5 is CIDEC (Cell Death Inducing DFFA Like Effector C). Affiliated tissues include ovary, adipocyte and skin, and related phenotypes are lipodystrophy and loss of subcutaneous adipose tissue in limbs

Disease Ontology : 12 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the CIDEC gene on chromosome 3p25.

Description from OMIM: 615238

Related Diseases for Lipodystrophy, Familial Partial, Type 5

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 5

Human phenotypes related to Lipodystrophy, Familial Partial, Type 5:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 60 33 obligate (100%) Obligate (100%) HP:0009125
2 loss of subcutaneous adipose tissue in limbs 60 33 obligate (100%) Obligate (100%) HP:0003635
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
4 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
5 acanthosis nigricans 60 33 hallmark (90%) Very frequent (99-80%) HP:0000956
6 hepatic steatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001397
7 pancreatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001733
8 polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0000147
9 calf muscle hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008981
10 decreased serum leptin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003292
11 insulin-resistant diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000831
12 decreased adiponectin level 60 33 hallmark (90%) Very frequent (99-80%) HP:0030685
13 loss of gluteal subcutaneous adipose tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0009017
14 oligomenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000876
15 marked muscular hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009042
16 combined hyperlipidemia 60 Very frequent (99-80%)
17 loss of facial adipose tissue 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
hepatomegaly
steatosis

Muscle Soft Tissue:
muscular appearance
lipodystrophy, partial
lack of adipose tissue on limbs and femorogluteal regions
preservation of visceral, neck, and axillary fat pads
adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet
more
Endocrine Features:
diabetes mellitus, insulin-resistant

Head And Neck Neck:
normal adipose tissue around the neck

Metabolic Features:
increased resting metabolic rate

Skin Nails Hair Skin:
acanthosis nigricans

Laboratory Abnormalities:
increased triglycerides
dyslipidemia
decreased leptin
decreased adiponectin

Head And Neck Face:
normal adipose tissue on the face

Abdomen Pancreas:
secondary pancreatitis

Clinical features from OMIM:

615238

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 5

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Familial Partial, Type 5

Genetic Tests for Lipodystrophy, Familial Partial, Type 5

Genetic tests related to Lipodystrophy, Familial Partial, Type 5:

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 5 30 CIDEC

Anatomical Context for Lipodystrophy, Familial Partial, Type 5

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 5:

42
Ovary, Adipocyte, Skin

Publications for Lipodystrophy, Familial Partial, Type 5

Articles related to Lipodystrophy, Familial Partial, Type 5:

# Title Authors Year
1
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. ( 20049731 )
2009
2
FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. ( 18654663 )
2008

Variations for Lipodystrophy, Familial Partial, Type 5

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CIDEC NM_022094.3(CIDEC): c.556G> T (p.Glu186Ter) single nucleotide variant Pathogenic rs587776968 GRCh37 Chromosome 3, 9908979: 9908979
2 CIDEC NM_022094.3(CIDEC): c.556G> T (p.Glu186Ter) single nucleotide variant Pathogenic rs587776968 GRCh38 Chromosome 3, 9867295: 9867295

Expression for Lipodystrophy, Familial Partial, Type 5

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 5.

Pathways for Lipodystrophy, Familial Partial, Type 5

GO Terms for Lipodystrophy, Familial Partial, Type 5

Sources for Lipodystrophy, Familial Partial, Type 5

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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