Lipodystrophy, Familial Partial, Type 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 6

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 6:

Name: Lipodystrophy, Familial Partial, Type 6 ⁵⁷ ⁴⁰ ⁷³

Fpld6 ⁵⁷ ⁵⁹ ⁷⁵

Familial Partial Lipodystrophy 6 ²⁹ ⁶

Lipodystrophy, Familial Partial, Associated with Lipe Mutations ⁵⁷

Lipe-Related Familial Partial Lipodystrophy ⁵⁹

Lipodystrophy, Familial Partial, 6 ⁷⁵

Lipe-Related Fpld ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers have an increased risk of metabolic dysfunction

HPO:

³²

lipodystrophy, familial partial, type 6:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Skin diseases Endocrine diseases Cardiovascular 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 615980

Orphanet ⁵⁹ ORPHA435660

ICD10 via Orphanet ³⁴ E88.1

MedGen ⁴² C4014869 CN219208

MeSH ⁴⁴ D024821

SNOMED-CT via HPO ⁶⁹ 258211005 48606007 197321007 more

UMLS ⁷³ C4014869

Sources

Summaries for Lipodystrophy, Familial Partial, Type 6

OMIM : ⁵⁷ Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017). (615980)

MalaCards based summary : Lipodystrophy, Familial Partial, Type 6, also known as fpld6, is related to lipe-related familial partial lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 6 is LIPE (Lipase E, Hormone Sensitive Type). Affiliated tissues include ovary, skin and adipocyte, and related phenotypes are elevated serum creatine phosphokinase and insulin resistance

UniProtKB/Swiss-Prot : ⁷⁵ Lipodystrophy, familial partial, 6: A form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy.

Sources

Related Diseases for Lipodystrophy, Familial Partial, Type 6

Diseases in the 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
Familial Partial Lipodystrophy Due to Akt2 Mutations	Lipe-Related Familial Partial Lipodystrophy

Diseases related to Lipodystrophy, Familial Partial, Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lipe-related familial partial lipodystrophy	11.3

Sources

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 6

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Liver:
hepatic steatosis

Muscle Soft Tissue:
abnormal subcutaneous fat distribution
reduced lower limb subcutaneous fat
abnormal fat accumulation in axillae (in some patients)
abnormal fat accumulation in the back (in some patients)
abnormal fat accumulation below the triceps (in some patients)
more

Abdomen External Features:
increased visceral fat

Chest Ribs Sternum Clavicles And Scapulae:
abnormal fat accumulation in the clavicular regions (in some patients)

Laboratory Abnormalities:
elevated creatine kinase (in some patients)

Endocrine Features:
insulin resistance
elevated fasting glucose
elevated insulin
type 2 diabetes mellitus
elevated serum adiponectin

Metabolic Features:
dyslipidemia
elevated fasting triglycerides
low high-density lipoprotein cholesterol
small adipocytes
impaired lipolysis
more

Head And Neck Neck:
abnormal fat accumulation in neck

Genitourinary External Genitalia Female:
abnormal fat accumulation in the labia majora (in some patients)

Clinical features from OMIM:

615980

Human phenotypes related to Lipodystrophy, Familial Partial, Type 6:

⁵⁹ ³² (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	elevated serum creatine phosphokinase ⁵⁹ ³²	occasional (7.5%)	Very frequent (99-80%)	HP:0003236
2	insulin resistance ⁵⁹ ³²		Obligate (100%)	HP:0000855
3	lipodystrophy ⁵⁹ ³²		Obligate (100%)	HP:0009125
4	hepatic steatosis ⁵⁹ ³²		Very frequent (99-80%)	HP:0001397
5	hypertriglyceridemia ⁵⁹		Very frequent (99-80%)
6	hepatomegaly ⁵⁹		Very frequent (99-80%)
7	decreased serum leptin ⁵⁹		Very frequent (99-80%)
8	combined hyperlipidemia ⁵⁹		Very frequent (99-80%)
9	increased intraabdominal fat ⁵⁹		Very frequent (99-80%)
10	loss of gluteal subcutaneous adipose tissue ⁵⁹		Very frequent (99-80%)
11	increased adipose tissue around the neck ⁵⁹		Obligate (100%)
12	loss of subcutaneous adipose tissue in limbs ⁵⁹		Obligate (100%)
13	polycystic ovaries ⁵⁹		Very frequent (99-80%)
14	insulin-resistant diabetes mellitus ⁵⁹		Very frequent (99-80%)
15	oligomenorrhea ⁵⁹		Very frequent (99-80%)
16	acanthosis nigricans ⁵⁹		Very frequent (99-80%)
17	marked muscular hypertrophy ⁵⁹		Very frequent (99-80%)
18	abnormality of the labia majora ⁵⁹		Very frequent (99-80%)
19	decreased adiponectin level ⁵⁹		Very frequent (99-80%)
20	proximal muscle weakness in lower limbs ⁵⁹		Frequent (79-30%)
21	proximal muscle weakness in upper limbs ⁵⁹		Frequent (79-30%)
22	abnormality of lipid metabolism ³²			HP:0003119
23	muscular dystrophy ³²	occasional (7.5%)		HP:0003560
24	proximal muscle weakness ³²	occasional (7.5%)		HP:0003701
25	abdominal obesity ³²			HP:0012743

Sources

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 6

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Familial Partial, Type 6

Sources

Genetic Tests for Lipodystrophy, Familial Partial, Type 6

Genetic tests related to Lipodystrophy, Familial Partial, Type 6:

#	Genetic test	Affiliating Genes
1	Familial Partial Lipodystrophy 6 ²⁹	LIPE

Sources

Anatomical Context for Lipodystrophy, Familial Partial, Type 6

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 6:

⁴¹

Ovary, Skin, Adipocyte

Sources

Publications for Lipodystrophy, Familial Partial, Type 6

Sources

Genes for Lipodystrophy, Familial Partial, Type 6

Genes related to Lipodystrophy, Familial Partial, Type 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LIPE	Lipase E, Hormone Sensitive Type	Protein Coding	1350	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹	24375490 25475467

Sources

Variations for Lipodystrophy, Familial Partial, Type 6

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 6:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LIPE	NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs)	deletion	Likely pathogenic	rs587777699	GRCh38	Chromosome 19, 42401822: 42401840
2	LIPE	NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs)	deletion	Likely pathogenic	rs587777699	GRCh37	Chromosome 19, 42905974: 42905992
3	LIPE	LIPE, 2-BP INS, CG	insertion	Pathogenic
4	LIPE	NM_005357.3(LIPE): c.3103G> T (p.Glu1035Ter)	single nucleotide variant	Pathogenic	rs766817317	GRCh37	Chromosome 19, 42906092: 42906092
5	LIPE	NM_005357.3(LIPE): c.3103G> T (p.Glu1035Ter)	single nucleotide variant	Pathogenic	rs766817317	GRCh38	Chromosome 19, 42401940: 42401940

Sources

Expression for Lipodystrophy, Familial Partial, Type 6

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 6.

Sources

Pathways for Lipodystrophy, Familial Partial, Type 6

Sources

GO Terms for Lipodystrophy, Familial Partial, Type 6

Sources

Sources for Lipodystrophy, Familial Partial, Type 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia