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

FPLD6 MCID: LPD036 MIFTS: 25	Lipodystrophy, Familial Partial, Type 6 (FPLD6) Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 6

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

Name: Lipodystrophy, Familial Partial, Type 6 ⁵⁸ ⁵⁴ ⁴¹ ⁷⁴

Fpld6 ⁵⁸ ¹² ⁵⁴ ⁶⁰ ⁷⁶

Lipe-Related Familial Partial Lipodystrophy ¹² ⁵⁴ ⁶⁰

Lipe-Related Fpld ¹² ⁵⁴ ⁶⁰

Familial Partial Lipodystrophy 6 ³⁰ ⁶

Lipodystrophy, Familial Partial, Associated with Lipe Mutations ⁵⁸

Familial Partial Lipodystrophy Associated with Lipe Mutations ¹²

Familial Partial Lipodystrophy Type 6 ¹²

Lipodystrophy, Familial Partial, 6 ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers have an increased risk of metabolic dysfunction

HPO:

³³

lipodystrophy, familial partial, type 6:
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:0070206

OMIM ⁵⁸ 615980

MeSH ⁴⁵ D024821

ICD10 via Orphanet ³⁵ E88.1

Orphanet ⁶⁰ ORPHA435660

MedGen ⁴³ C4014869 CN219208

UMLS ⁷⁴ C4014869

Sources

Summaries for Lipodystrophy, Familial Partial, Type 6

OMIM : ⁵⁸ 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, is also known as fpld6. An important gene associated with Lipodystrophy, Familial Partial, Type 6 is LIPE (Lipase E, Hormone Sensitive Type). Affiliated tissues include skin, ovary and adipocyte, 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 LIPE gene on chromosome 19q13.

UniProtKB/Swiss-Prot : ⁷⁶ 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 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

Sources

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 6

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

⁶⁰ ³³ (show all 27)

#	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	increased adipose tissue around the neck ⁶⁰ ³³	obligate (100%)	Obligate (100%)	HP:0000468
4	hepatomegaly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002240
5	hypertriglyceridemia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002155
6	acanthosis nigricans ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000956
7	hepatic steatosis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001397
8	polycystic ovaries ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000147
9	decreased serum leptin ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003292
10	insulin-resistant diabetes mellitus ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000831
11	increased intraabdominal fat ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008993
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	abnormality of the labia majora ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0012881
17	elevated serum creatine kinase ³³	occasional (7.5%)		HP:0003236
18	proximal muscle weakness in lower limbs ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008994
19	proximal muscle weakness in upper limbs ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008997
20	proximal muscle weakness ³³	occasional (7.5%)		HP:0003701
21	muscular dystrophy ³³	occasional (7.5%)		HP:0003560
22	insulin resistance ⁶⁰ ³³		Obligate (100%)	HP:0000855
23	diabetes mellitus ³³			HP:0000819
24	elevated serum creatine phosphokinase ⁶⁰		Very frequent (99-80%)
25	combined hyperlipidemia ⁶⁰		Very frequent (99-80%)
26	abdominal obesity ³³			HP:0012743
27	abnormal circulating lipid concentration ³³			HP:0003119

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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 ³⁰	LIPE

Sources

Anatomical Context for Lipodystrophy, Familial Partial, Type 6

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

⁴²

Skin, Ovary, 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 ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰	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	LIPE, 2-BP INS, CG	insertion	Pathogenic
2	LIPE	NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs)	deletion	Likely pathogenic	rs587777699	GRCh38	Chromosome 19, 42401822: 42401840
3	LIPE	NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs)	deletion	Likely pathogenic	rs587777699	GRCh37	Chromosome 19, 42905974: 42905992
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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lipodystrophy, Familial Partial, Type 6 (FPLD6)

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 6

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lipodystrophy, Familial Partial, Type 6

Related Diseases for Lipodystrophy, Familial Partial, Type 6

Diseases in the Familial Partial Lipodystrophy family:

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 6

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 6

Genetic Tests for Lipodystrophy, Familial Partial, Type 6

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

Anatomical Context for Lipodystrophy, Familial Partial, Type 6

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

Publications for Lipodystrophy, Familial Partial, Type 6

Genes for Lipodystrophy, Familial Partial, Type 6

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

Variations for Lipodystrophy, Familial Partial, Type 6

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

Expression for Lipodystrophy, Familial Partial, Type 6

Pathways for Lipodystrophy, Familial Partial, Type 6

GO Terms for Lipodystrophy, Familial Partial, Type 6

Sources for Lipodystrophy, Familial Partial, Type 6