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FPLD5
MCID: LPD030
MIFTS: 40

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
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Lipodystrophy, Familial Partial, Type 5

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

Name: Lipodystrophy, Familial Partial, Type 5 57 20 13 39 70
Fpld5 57 12 20 58 72
Cidec-Related Fpld 12 20 58
Familial Partial Lipodystrophy Associated with Cidec Mutations 12 72
Cidec-Related Familial Partial Lipodystrophy 20 58
Familial Partial Lipodystrophy Type 5 12 15
Familial Partial Lipodystrophy 5 29 6
Lipodystrophy, Familial Partial, Associated with Cidec Mutations 57
Lipodystrophy, Familial Partial, 5 72

Characteristics:

Orphanet epidemiological data:

58
cidec-related familial partial lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
lipodystrophy, familial partial, type 5:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Skin diseases Endocrine diseases Neuronal diseases Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0070203
OMIM® 57 615238
OMIM Phenotypic Series 57 PS151660
MeSH 44 D052496
ICD10 via Orphanet 33 E88.1
Orphanet 58 ORPHA435651
UMLS 70 C3808940
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Summaries for Lipodystrophy, Familial Partial, Type 5

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UniProtKB/Swiss-Prot : 72 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, also known as fpld5, is related to adiposis dolorosa and emerinopathy. 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 Apoptosis Modulation and Signaling and Lipoprotein metabolism. 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.

More information from OMIM: 615238 PS151660
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Related Diseases for Lipodystrophy, Familial Partial, Type 5

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Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 7 Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 6
Familial Partial Lipodystrophy Due to Akt2 Mutations

Diseases related to Lipodystrophy, Familial Partial, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 adiposis dolorosa 10.0 ZMPSTE24 CIDEC BSCL2 AGPAT2
2 emerinopathy 10.0 LMNA EMD
3 mandibuloacral dysplasia with type a lipodystrophy 10.0 ZMPSTE24 LMNA
4 x-linked emery-dreifuss muscular dystrophy 10.0 LMNA EMD
5 acroosteolysis 10.0 ZMPSTE24 LMNA
6 first-degree atrioventricular block 9.9 LMNA EMD
7 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 LMNA EMD
8 lipodystrophy, familial partial, type 4 9.9 PLIN1 LMNA LIPE CIDEC
9 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.9 LMNA EMD
10 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.9 ZMPSTE24 LMNA
11 lipodystrophy, congenital generalized, type 1 9.8 GZMB CAVIN1 BSCL2 AGPAT2
12 restrictive dermopathy, lethal 9.8 ZMPSTE24 LMNA
13 nonencapsulated sclerosing carcinoma 9.8 LMNB2 LMNB1 LMNA
14 spinocerebellar ataxia, autosomal recessive 8 9.8 LMNB1 LMNA EMD
15 pigmentation disease 9.8 LMNA CAVIN1 BSCL2 AGPAT2
16 muscular disease 9.8 LMNB2 LMNA EMD
17 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.8 ZMPSTE24 LMNA BSCL2 AGPAT2
18 acquired lipodystrophy 9.7 LMNB2 CAV1 BSCL2
19 lipodystrophy, familial partial, type 3 9.7 PCYT1A LMNA CIDEC BSCL2 AGPAT2
20 lipodystrophy, familial partial, type 1 9.7 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
21 berardinelli-seip congenital lipodystrophy 9.7 CAVIN1 CAV1 BSCL2 AGPAT2
22 lipodystrophy, congenital generalized, type 4 9.7 CAVIN1 CAV1 BSCL2 AGPAT2
23 lipodystrophy, congenital generalized, type 3 9.7 CAVIN1 CAV1 BSCL2 AGPAT2
24 laminopathy 9.7 ZMPSTE24 LMNB2 LMNA EMD
25 myopathy, x-linked, with postural muscle atrophy 9.7 LMNA EMD
26 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.7 ZMPSTE24 LMNB2 LMNA EMD
27 reynolds syndrome 9.6 ZMPSTE24 LMNB2 LMNB1 LMNA
28 neuromuscular disease 9.6 LMNB2 LMNA EMD BSCL2
29 emery-dreifuss muscular dystrophy 1, x-linked 9.6 LMNB2 LMNB1 LMNA EMD
30 greenberg dysplasia 9.6 LMNB2 LMNB1 LMNA EMD
31 buschke-ollendorff syndrome 9.6 LMNB2 LMNB1 LMNA EMD
32 pelger-huet anomaly 9.6 LMNB2 LMNB1 LMNA EMD
33 primary hyperoxaluria 9.6 LMNB2 LMNB1 LMNA
34 autosomal dominant limb-girdle muscular dystrophy 9.6 LMNA EMD CAV1
35 muscle tissue disease 9.6 LMNB2 LMNB1 LMNA EMD
36 charcot-marie-tooth disease 9.5 LMNB2 LMNB1 LMNA EMD BSCL2
37 charcot-marie-tooth disease, axonal, type 2b1 9.5 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
38 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.5 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
39 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
40 emery-dreifuss muscular dystrophy 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
41 cardiomyopathy, dilated, 1h 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
42 cardiomyopathy, dilated, 1a 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
43 acquired generalized lipodystrophy 9.4 ZMPSTE24 PLIN1 LMNA CIDEC CAVIN1 BSCL2
44 hutchinson-gilford progeria syndrome 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
45 muscular dystrophy, congenital, lmna-related 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
46 familial partial lipodystrophy 9.3 PLIN1 LMNA LIPE EMD CIDEC BSCL2
47 lipodystrophy, familial partial, type 2 9.3 ZMPSTE24 PLIN1 LMNA CIDEC CAVIN1 BSCL2
48 muscular dystrophy 9.0 LMNB2 LMNB1 LMNA EMD CAVIN1 CAV1
49 lipodystrophy, congenital generalized, type 2 8.9 PLIN1 LMNA GZMB CIDEC CAVIN1 CAV1
50 type 2 diabetes mellitus 8.8 PLIN1 PIK3R1 LMNA LIPE CAV1 BSCL2

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



Diseases related to Lipodystrophy, Familial Partial, Type 5
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Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 5

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

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 58 31 obligate (100%) Obligate (100%) HP:0009125
2 loss of subcutaneous adipose tissue in limbs 58 31 obligate (100%) Obligate (100%) HP:0003635
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
5 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
6 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
7 acanthosis nigricans 58 31 hallmark (90%) Very frequent (99-80%) HP:0000956
8 calf muscle hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008981
9 pancreatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001733
10 insulin-resistant diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000831
11 loss of gluteal subcutaneous adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0009017
12 oligomenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000876
13 decreased serum leptin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003292
14 marked muscular hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009042
15 decreased adiponectin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030685
16 combined hyperlipidemia 58 Very frequent (99-80%)
17 loss of facial adipose tissue 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 AGPAT2 AKT2 BSCL2 CAV1 CAVIN1 CIDEC
2 homeostasis/metabolism MP:0005376 10.22 AGPAT2 AKT2 BSCL2 CAV1 CAVIN1 CIDEC
3 cellular MP:0005384 10.21 AGPAT2 AKT2 BSCL2 CAV1 CAVIN1 EMD
4 adipose tissue MP:0005375 10.16 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LIPE
5 hematopoietic system MP:0005397 10.11 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LMNA
6 integument MP:0010771 10.03 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LIPE
7 liver/biliary system MP:0005370 9.85 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LIPE
8 muscle MP:0005369 9.7 AKT2 CAV1 CAVIN1 EMD LIPE LMNA
9 respiratory system MP:0005388 9.17 AKT2 CAV1 CAVIN1 LMNA LMNB1 LMNB2
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Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 5

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

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Genetic Tests for Lipodystrophy, Familial Partial, Type 5

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

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 5 29 CIDEC
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Anatomical Context for Lipodystrophy, Familial Partial, Type 5

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Publications for Lipodystrophy, Familial Partial, Type 5

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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. 6 57
20049731 2009
2
FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. 6 57
18654663 2008
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Variations for Lipodystrophy, Familial Partial, Type 5

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

6
# 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
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Expression for Lipodystrophy, Familial Partial, Type 5

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

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Apoptosis Modulation and Signaling 1
Show member pathways
 12.5 PIK3R1 LMNB2 LMNB1 LMNA GZMB AKT2
2
Lipoprotein metabolism 65
Show member pathways
 12.35 PLIN1 LIPE CIDEC CAV1
3
Glucose / Energy Metabolism 4
12.22 PLIN1 PCYT1A LIPE BSCL2 AKT2 AGPAT2
4
Phospholipase D signaling pathway 36
Show member pathways
 12.19 PIK3R1 PCYT1A AKT2 AGPAT2
5
Cytoskeletal Signaling 4
12.12 LMNB2 LMNB1 LMNA EMD CAVIN1 CAV1
6
Apoptosis and Autophagy 4
12.05 LMNB2 LMNB1 LMNA GZMB
7
Fluid shear stress and atherosclerosis 36
11.88 PIK3R1 CAV1 AKT2
8
Apelin signaling pathway 36
11.86 PLIN1 LIPE AKT2
9
Apoptosis and survival Caspase cascade 23
Show member pathways
 11.61 LMNB2 LMNB1 LMNA GZMB AKT2
10
Regulation of lipolysis in adipocytes 36
11.43 PLIN1 PIK3R1 LIPE AKT2
11
Granzyme Pathway 63
Show member pathways
 11.35 LMNB2 LMNB1 LMNA GZMB
12
Insulin Pathway 1
11.27 PIK3R1 CAV1 AKT2
13
Adipogenesis 1
11.22 ZMPSTE24 PLIN1 LMNA LIPE BSCL2 AGPAT2
14
Nuclear Envelope Reassembly 65
Show member pathways
 11.13 LMNB1 LMNA EMD
15
PDGFR-alpha signaling pathway 1
10.88 PIK3R1 CAV1
16
E-cadherin signaling in keratinocytes 1
10.8 PIK3R1 AKT2
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GO Terms for Lipodystrophy, Familial Partial, Type 5

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.24 ZMPSTE24 SRI PLIN1 PIK3R1 PCYT1A LMNB2
2 endoplasmic reticulum membrane GO:0005789 9.93 ZMPSTE24 SRI PCYT1A CAV1 BSCL2 AGPAT2
3 endoplasmic reticulum GO:0005783 9.91 ZMPSTE24 PLIN1 PCYT1A EMD CIDEC CAVIN1
4 protein-containing complex GO:0032991 9.88 ZMPSTE24 PIK3R1 CAVIN1 CAV1 AKT2
5 nuclear membrane GO:0031965 9.71 LMNB2 LMNB1 LMNA EMD
6 caveola GO:0005901 9.61 LIPE CAVIN1 CAV1
7 nuclear envelope GO:0005635 9.55 ZMPSTE24 PCYT1A LMNB1 LMNA EMD
8 lamin filament GO:0005638 9.32 LMNB1 LMNA
9 nuclear inner membrane GO:0005637 9.26 ZMPSTE24 LMNB2 LMNB1 EMD
10 lipid droplet GO:0005811 9.02 PLIN1 LIPE CIDEC CAV1 BSCL2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.65 PLIN1 PCYT1A LIPE BSCL2 AGPAT2
2 lipid catabolic process GO:0016042 9.54 PLIN1 LIPE BSCL2
3 muscle organ development GO:0007517 9.5 SRI LMNA EMD
4 positive regulation of cell motility GO:2000147 9.46 CAVIN1 AKT2
5 lipid droplet organization GO:0034389 9.43 CIDEC BSCL2
6 nuclear envelope organization GO:0006998 9.4 ZMPSTE24 LMNA
7 mitotic nuclear envelope reassembly GO:0007084 9.16 LMNA EMD
8 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 8.96 SRI CAV1
9 fat cell differentiation GO:0045444 8.8 PSMB8 BSCL2 AKT2
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Sources for Lipodystrophy, Familial Partial, Type 5

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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