FPLD5
MCID: LPD030
MIFTS: 36

Lipodystrophy, Familial Partial, Type 5 (FPLD5)

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 5

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

Name: Lipodystrophy, Familial Partial, Type 5 57 38 71
Fpld5 57 11 58 73
Cidec-Related Familial Partial Lipodystrophy 58 28 5
Familial Partial Lipodystrophy Associated with Cidec Mutations 11 73
Familial Partial Lipodystrophy Type 5 11 14
Cidec-Related Fpld 11 58
Lipodystrophy, Familial Partial, Associated with Cidec Mutations 57
Lipodystrophy, Familial Partial, 5 73

Characteristics:


Inheritance:

Lipodystrophy, Familial Partial, Type 5: Autosomal recessive 57
Cidec-Related Familial Partial Lipodystrophy: Autosomal recessive 58

Prevelance:

Cidec-Related Familial Partial Lipodystrophy: <1/1000000 (Worldwide) 58

Age Of Onset:

Cidec-Related Familial Partial Lipodystrophy: Adolescent 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one patient has been reported (as of curation date may, 2013)


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0070203
OMIM® 57 615238
OMIM Phenotypic Series 57 PS151660
MeSH 43 D052496
ICD10 via Orphanet 32 E88.1
Orphanet 58 ORPHA435651
UMLS 71 C3808940

Summaries for Lipodystrophy, Familial Partial, Type 5

Orphanet: 58 A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.

MalaCards based summary: Lipodystrophy, Familial Partial, Type 5, also known as fpld5, is related to lipodystrophy, familial partial, type 1 and adiposis dolorosa. An important gene associated with Lipodystrophy, Familial Partial, Type 5 is CIDEC (Cell Death Inducing DFFA Like Effector C), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. Affiliated tissues include skin, and related phenotypes are lipodystrophy and loss of subcutaneous adipose tissue in limbs

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the CIDEC gene on chromosome 3p25.

More information from OMIM: 615238 PS151660

Related Diseases for Lipodystrophy, Familial Partial, Type 5

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, Type 5:



Diseases related to Lipodystrophy, Familial Partial, Type 5

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 5

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

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 58 30 Very rare (1%) Obligate (100%)
HP:0009125
2 loss of subcutaneous adipose tissue in limbs 58 30 Obligate (100%) Obligate (100%)
HP:0003635
3 hepatomegaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002240
4 hypertriglyceridemia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002155
5 hepatic steatosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001397
6 polycystic ovaries 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000147
7 acanthosis nigricans 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000956
8 pancreatitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001733
9 oligomenorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000876
10 calf muscle hypertrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008981
11 insulin-resistant diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000831
12 loss of gluteal subcutaneous adipose tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009017
13 decreased serum leptin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003292
14 decreased adiponectin level 58 30 Very rare (1%) Very frequent (99-80%)
HP:0030685
15 hypertension 30 Very rare (1%) HP:0000822
16 irregular menstruation 30 Very rare (1%) HP:0000858
17 diabetic ketoacidosis 30 Very rare (1%) HP:0001953
18 increased c-peptide level 30 Very rare (1%) HP:0030796
19 combined hyperlipidemia 58 Very frequent (99-80%)
20 loss of facial adipose tissue 58 Excluded (0%)
21 marked muscular hypertrophy 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

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

GenomeRNAi Phenotypes related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.53 AGPAT2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.53 LIPE
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.53 LIPE
4 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.53 LIPE
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.53 LIPE
6 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.53 LIPE
7 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.53 LIPE
8 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.53 LIPE
9 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.53 AGPAT2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.53 AGPAT2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 AGPAT2 LIPE
12 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.53 AGPAT2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.53 LIPE
14 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 AGPAT2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.53 AGPAT2

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.65 AGPAT2 CIDEC LIPE MED19 PLIN1
2 adipose tissue MP:0005375 9.55 AGPAT2 CIDEC LIPE MED19 PLIN1
3 growth/size/body region MP:0005378 9.35 AGPAT2 CIDEC LIPE MED19 PLIN1
4 integument MP:0010771 9.02 AGPAT2 CIDEC LIPE MED19 PLIN1

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 Cidec-Related Familial Partial Lipodystrophy 28 CIDEC

Anatomical Context for Lipodystrophy, Familial Partial, Type 5

Organs/tissues related to Lipodystrophy, Familial Partial, Type 5:

MalaCards : Skin

Publications for Lipodystrophy, Familial Partial, Type 5

Articles related to Lipodystrophy, Familial Partial, Type 5:

# Title Authors PMID Year
1
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. 57 5
20049731 2009
2
FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. 57 5
18654663 2008

Variations for Lipodystrophy, Familial Partial, Type 5

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CIDEC NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter) SNV Pathogenic
50400 rs587776968 GRCh37: 3:9908979-9908979
GRCh38: 3:9867295-9867295
2 CIDEC NM_001321142.2(CIDEC):c.96G>T (p.Leu32=) SNV Benign
128774 rs456168 GRCh37: 3:9918861-9918861
GRCh38: 3:9877177-9877177

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

Pathways related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 PLIN1 MED19 LIPE CIDEC AGPAT2
2 11.98 PLIN1 LIPE AGPAT2
3
Show member pathways
11.49 PLIN1 LIPE
4
Show member pathways
11.27 PLIN1 LIPE
5 11.25 PLIN1 LIPE AGPAT2
6
Show member pathways
11.08 LIPE AGPAT2
7 10.39 PLIN1 LIPE
8 10.21 PLIN1 LIPE CIDEC

GO Terms for Lipodystrophy, Familial Partial, Type 5

Cellular components related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid droplet GO:0005811 9.1 PLIN1 LIPE CIDEC

Biological processes related to Lipodystrophy, Familial Partial, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.26 PLIN1 LIPE
2 lipid metabolic process GO:0006629 8.92 PLIN1 LIPE AGPAT2

Sources for Lipodystrophy, Familial Partial, Type 5

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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