FPLD5
MCID: LPD030
MIFTS: 43

Lipodystrophy, Familial Partial, Type 5 (FPLD5)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver 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 56 52 13 39 71
Fpld5 56 12 52 58 73
Cidec-Related Fpld 12 52 58
Familial Partial Lipodystrophy Associated with Cidec Mutations 12 73
Cidec-Related Familial Partial Lipodystrophy 52 58
Familial Partial Lipodystrophy Type 5 12 15
Familial Partial Lipodystrophy 5 29 6
Lipodystrophy, Familial Partial, Associated with Cidec Mutations 56
Lipodystrophy, Familial Partial, 5 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0070203
OMIM 56 615238
OMIM Phenotypic Series 56 PS151660
MeSH 43 D052496
ICD10 via Orphanet 33 E88.1
Orphanet 58 ORPHA435651
UMLS 71 C3808940

Summaries for Lipodystrophy, Familial Partial, Type 5

UniProtKB/Swiss-Prot : 73 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 lipodystrophy, familial partial, type 6 and otosalpingitis. 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 Apoptotic execution phase and Apoptosis Modulation and Signaling. Affiliated tissues include adipocyte, skin and ovary, 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.

More information from OMIM: 615238 PS151660

Related Diseases for Lipodystrophy, Familial Partial, Type 5

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 58)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 6 10.3 LIPE CIDEC
2 otosalpingitis 10.1 PSMB8 LIPE
3 emerinopathy 10.1 LMNA EMD
4 rare genetic diabetes mellitus 10.1 LMNA BSCL2
5 x-linked emery-dreifuss muscular dystrophy 10.0 LMNA EMD
6 mandibuloacral dysplasia with type a lipodystrophy 10.0 ZMPSTE24 LMNA
7 adiposis dolorosa 10.0 ZMPSTE24 CIDEC BSCL2 AGPAT2
8 acroosteolysis 10.0 ZMPSTE24 LMNA
9 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.0 LMNA EMD
10 lipodystrophy, familial partial, type 4 9.9 PLIN1 LMNA LIPE CIDEC
11 first-degree atrioventricular block 9.9 LMNA EMD
12 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.9 ZMPSTE24 LMNA BSCL2
13 autosomal dominant distal hereditary motor neuronopathy 9.9 LMNA BSCL2 AGPAT2
14 laminopathy 9.9 ZMPSTE24 LMNA EMD
15 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.8 LMNA EMD
16 muscular disease 9.8 LMNB2 LMNA EMD
17 osteopoikilosis 9.8 LMNB2 LMNA EMD
18 acquired lipodystrophy 9.8 LMNB2 CAV1 BSCL2
19 pigmentation disease 9.8 LMNA CAVIN1 BSCL2 AGPAT2
20 nonencapsulated sclerosing carcinoma 9.8 LMNB2 LMNB1 LMNA
21 myopathy, x-linked, with postural muscle atrophy 9.8 LMNA EMD
22 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.8 ZMPSTE24 LMNA BSCL2 AGPAT2
23 lipodystrophy, congenital generalized, type 1 9.8 ZMPSTE24 LMNA BSCL2 AGPAT2
24 lipodystrophy, congenital generalized, type 4 9.8 CAVIN1 CAV1 BSCL2 AGPAT2
25 lipodystrophy, congenital generalized, type 3 9.7 CAVIN1 CAV1 BSCL2 AGPAT2
26 berardinelli-seip congenital lipodystrophy 9.7 CAVIN1 CAV1 BSCL2 AGPAT2
27 lipodystrophy, familial partial, type 1 9.7 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
28 lipodystrophy, familial partial, type 3 9.7 PCYT1A LMNA CIDEC BSCL2 AGPAT2
29 isolated elevated serum creatine phosphokinase levels 9.6 LMNA CAV1 AGPAT2
30 restrictive dermopathy, lethal 9.6 ZMPSTE24 LMNA
31 autosomal dominant limb-girdle muscular dystrophy 9.6 LMNA EMD CAV1
32 reynolds syndrome 9.6 ZMPSTE24 LMNB2 LMNB1 LMNA
33 emery-dreifuss muscular dystrophy 9.6 LMNB2 LMNB1 LMNA EMD
34 cardiomyopathy, dilated, 1h 9.6 LMNB2 LMNB1 LMNA EMD
35 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.6 LMNB2 LMNB1 LMNA EMD
36 emery-dreifuss muscular dystrophy 1, x-linked 9.6 LMNB2 LMNB1 LMNA EMD
37 greenberg dysplasia 9.6 LMNB2 LMNB1 LMNA EMD
38 buschke-ollendorff syndrome 9.6 LMNB2 LMNB1 LMNA EMD
39 pelger-huet anomaly 9.5 LMNB2 LMNB1 LMNA EMD
40 nasal cavity lymphoma 9.5 PSMB8 GZMB
41 muscle tissue disease 9.5 LMNB2 LMNB1 LMNA EMD
42 acquired generalized lipodystrophy 9.5 ZMPSTE24 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
43 charcot-marie-tooth disease 9.4 LMNB2 LMNB1 LMNA EMD BSCL2
44 charcot-marie-tooth disease, axonal, type 2b1 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
45 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
46 cardiomyopathy, dilated, 1a 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
47 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.4 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
48 hutchinson-gilford progeria syndrome 9.3 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
49 neuromuscular disease 9.3 LMNB2 LMNB1 LMNA EMD BSCL2
50 muscular dystrophy, congenital, lmna-related 9.3 ZMPSTE24 LMNB2 LMNB1 LMNA EMD

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 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:

56
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

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

45
# 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 adipose tissue MP:0005375 10.18 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LIPE
4 cellular MP:0005384 10.17 AKT2 BSCL2 CAV1 CAVIN1 EMD LIPE
5 cardiovascular system MP:0005385 10.11 BSCL2 CAV1 CAVIN1 EMD LIPE LMNA
6 hematopoietic system MP:0005397 10.11 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LMNA
7 integument MP:0010771 10.03 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LIPE
8 liver/biliary system MP:0005370 9.85 AGPAT2 AKT2 BSCL2 CAV1 CIDEC LIPE
9 muscle MP:0005369 9.7 AKT2 CAV1 CAVIN1 EMD LIPE LMNA
10 respiratory system MP:0005388 9.17 AKT2 CAV1 CAVIN1 LMNA LMNB1 LMNB2

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:

40
Adipocyte, Skin, Ovary

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. 6 56
20049731 2009
2
FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. 56 6
18654663 2008

Variations for Lipodystrophy, Familial Partial, Type 5

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CIDEC NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)SNV Pathogenic 50400 rs587776968 3:9908979-9908979 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

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 PSMB8 LMNB1 LMNA GZMB AKT2
2
Show member pathways
12.5 PIK3R1 LMNB2 LMNB1 LMNA GZMB AKT2
3
Show member pathways
12.36 PLIN1 LIPE CIDEC CAV1
4 12.22 PLIN1 PCYT1A LIPE BSCL2 AKT2 AGPAT2
5
Show member pathways
12.2 PIK3R1 PCYT1A AKT2 AGPAT2
6 12.12 LMNB2 LMNB1 LMNA EMD CAVIN1 CAV1
7 12.05 LMNB2 LMNB1 LMNA GZMB
8 11.89 PIK3R1 CAV1 AKT2
9 11.87 PLIN1 LIPE AKT2
10
Show member pathways
11.61 LMNB2 LMNB1 LMNA GZMB AKT2
11 11.42 PLIN1 PIK3R1 LIPE AKT2
12
Show member pathways
11.35 LMNB2 LMNB1 LMNA GZMB
13 11.27 PIK3R1 CAV1 AKT2
14 11.22 ZMPSTE24 PLIN1 LMNA LIPE BSCL2 AGPAT2
15
Show member pathways
11.13 LMNB1 LMNA EMD
16 10.89 PIK3R1 CAV1
17 10.82 PIK3R1 AKT2

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 membrane GO:0016020 10.24 ZMPSTE24 SRI PLIN1 PIK3R1 PCYT1A LMNB2
2 endoplasmic reticulum GO:0005783 9.97 ZMPSTE24 PLIN1 PCYT1A EMD CIDEC CAVIN1
3 endoplasmic reticulum membrane GO:0005789 9.93 ZMPSTE24 SRI PCYT1A CAV1 BSCL2 AGPAT2
4 protein-containing complex GO:0032991 9.88 ZMPSTE24 PIK3R1 CAVIN1 CAV1 AKT2
5 nuclear membrane GO:0031965 9.73 LMNB2 LMNB1 LMNA EMD
6 caveola GO:0005901 9.58 LIPE CAVIN1 CAV1
7 nuclear inner membrane GO:0005637 9.56 ZMPSTE24 LMNB2 LMNB1 EMD
8 lipid droplet GO:0005811 9.35 PLIN1 LIPE CIDEC CAV1 BSCL2
9 lamin filament GO:0005638 9.33 LMNB2 LMNB1 LMNA
10 nuclear envelope GO:0005635 9.1 ZMPSTE24 PCYT1A LMNB2 LMNB1 LMNA EMD

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 9.58 PLIN1 LIPE BSCL2
3 positive regulation of cell motility GO:2000147 9.43 CAVIN1 AKT2
4 lipid droplet organization GO:0034389 9.37 CIDEC BSCL2
5 nuclear envelope organization GO:0006998 9.32 ZMPSTE24 LMNA
6 mitotic nuclear envelope reassembly GO:0007084 9.16 LMNA EMD
7 fat cell differentiation GO:0045444 9.13 PSMB8 BSCL2 AKT2
8 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 8.62 SRI CAV1

Sources for Lipodystrophy, Familial Partial, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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