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 ⁵⁷ ⁵³ ¹³ ⁴⁰ ⁷³

Fpld5 ⁵⁷ ¹² ⁵³ ⁵⁹ ⁷⁵

Cidec-Related Fpld ¹² ⁵³ ⁵⁹

Familial Partial Lipodystrophy Associated with Cidec Mutations ¹² ⁷⁵

Cidec-Related Familial Partial Lipodystrophy ⁵³ ⁵⁹

Familial Partial Lipodystrophy 5 ²⁹ ⁶

Lipodystrophy, Familial Partial, Associated with Cidec Mutations ⁵⁷

Familial Partial Lipodystrophy Type 5 ¹²

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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

Orphanet: ⁵⁹

Rare skin diseases

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 615238

Disease Ontology ¹² DOID:0070203

Orphanet ⁵⁹ ORPHA435651

ICD10 via Orphanet ³⁴ E88.1

MedGen ⁴² C3808940 CN169867

MeSH ⁴⁴ D052496

SNOMED-CT via HPO ⁶⁹ 258211005 69878008 52073004 more

UMLS ⁷³ C3808940

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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

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 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

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	lipodystrophy ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0009125
6	pancreatitis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001733
7	polycystic ovaries ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000147
8	calf muscle hypertrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008981
9	decreased serum leptin ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003292
10	insulin-resistant diabetes mellitus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000831
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%)

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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 ²⁹	CIDEC

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Anatomical Context for Lipodystrophy, Familial Partial, Type 5

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

⁴¹

Skin, Ovary, Adipocyte

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Publications for Lipodystrophy, Familial Partial, Type 5

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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 ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷	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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Sources for Lipodystrophy, Familial Partial, Type 5

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³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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³⁹ LncRNADisease

⁴⁰ LOVD

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⁴² MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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