Lipodystrophy, Familial Partial, Type 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Skin diseases Endocrine diseases Cardiovascular diseases Muscle diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

Orphanet: ⁶⁰

Rare skin diseases

Rare endocrine diseases

External Ids:

Disease Ontology ¹² DOID:0070203

OMIM ⁵⁸ 615238

MeSH ⁴⁵ D052496

ICD10 via Orphanet ³⁵ E88.1

Orphanet ⁶⁰ ORPHA435651

MedGen ⁴³ C3808940 CN169867

SNOMED-CT via HPO ⁷⁰ 197321007 258211005 402599005 more

UMLS ⁷⁴ C3808940

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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

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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

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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

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Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 5

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

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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

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Anatomical Context for Lipodystrophy, Familial Partial, Type 5

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

⁴²

Ovary, Adipocyte, Skin

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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 )	Rubio-Cabezas O...LD Screening Consortium	2009
2	FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. ( 18654663 )	Nishino N...Kasuga M	2008

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Genes for Lipodystrophy, Familial Partial, Type 5

Genes related to Lipodystrophy, Familial Partial, Type 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CIDEC	Cell Death Inducing DFFA Like Effector C	Protein Coding	1400	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ Unconfirmed association ⁵⁸	20049731 18654663

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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

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Expression for Lipodystrophy, Familial Partial, Type 5

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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GO Terms for Lipodystrophy, Familial Partial, Type 5

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lipodystrophy, Familial Partial, Type 5 (FPLD5)

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 5

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lipodystrophy, Familial Partial, Type 5

Related Diseases for Lipodystrophy, Familial Partial, Type 5

Diseases in the Familial Partial Lipodystrophy family:

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 5

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 5

Genetic Tests for Lipodystrophy, Familial Partial, Type 5

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

Anatomical Context for Lipodystrophy, Familial Partial, Type 5

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

Publications for Lipodystrophy, Familial Partial, Type 5

Articles related to Lipodystrophy, Familial Partial, Type 5:

Genes for Lipodystrophy, Familial Partial, Type 5

Genes related to Lipodystrophy, Familial Partial, Type 5 (1 elite genes):

Variations for Lipodystrophy, Familial Partial, Type 5

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

Expression 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