MCID: LPD030
MIFTS: 24

Lipodystrophy, Familial Partial, Type 5

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 5

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

Name: Lipodystrophy, Familial Partial, Type 5 57 53 13 40 73
Fpld5 57 53 59 75
Cidec-Related Familial Partial Lipodystrophy 53 59
Familial Partial Lipodystrophy 5 29 6
Cidec-Related Fpld 53 59
Lipodystrophy, Familial Partial, Associated with Cidec Mutations 57
Familial Partial Lipodystrophy Associated with Cidec Mutations 75
Lipodystrophy, Familial Partial, 5 75

Characteristics:

Orphanet epidemiological data:

59
cidec-related familial partial lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
lipodystrophy, familial partial, type 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615238
Orphanet 59 ORPHA435651
ICD10 via Orphanet 34 E88.1
MeSH 44 D052496
UMLS 73 C3808940

Summaries for Lipodystrophy, Familial Partial, Type 5

UniProtKB/Swiss-Prot : 75 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 skin, ovary and adipocyte, and related phenotypes are hepatomegaly and hypertriglyceridemia

Description from OMIM: 615238

Related Diseases for Lipodystrophy, Familial Partial, Type 5

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 5

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
2 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
3 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
4 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
5 pancreatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001733
6 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
7 decreased serum leptin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003292
8 insulin-resistant diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000831
9 lipodystrophy 59 32 obligate (100%) Obligate (100%) HP:0009125
10 calf muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008981
11 loss of subcutaneous adipose tissue in limbs 59 32 obligate (100%) Obligate (100%) HP:0003635
12 decreased adiponectin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030685
13 loss of gluteal subcutaneous adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0009017
14 oligomenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000876
15 marked muscular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009042
16 combined hyperlipidemia 59 Very frequent (99-80%)
17 loss of facial adipose tissue 59 Excluded (0%)

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 29 CIDEC

Anatomical Context for Lipodystrophy, Familial Partial, Type 5

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

41
Skin, Ovary, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 5

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 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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