Lipodystrophy, Familial Partial, Type 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lipodystrophy, Familial Partial, Type 4

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 4:

Name: Lipodystrophy, Familial Partial, Type 4 ⁵⁷ ⁵³ ¹³ ⁴⁰ ⁷³

Fpld4 ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Familial Partial Lipodystrophy Associated with Plin1 Mutations ⁵³ ⁷⁵

Plin1-Related Familial Partial Lipodystrophy ⁵³ ⁵⁹

Familial Partial Lipodystrophy 4 ²⁹ ⁶

Plin1-Related Fpld ⁵³ ⁵⁹

Lipodystrophy, Familial Partial, Associated with Plin1 Mutations ⁵⁷

Familial Partial Lipodystrophy Type 4 ⁵³

Lipodystrophy, Familial Partial, 4 ⁷⁵

Fpld Due to Plin1 Mutations ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

plin1-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
three families have been reported (last curated april 2011)
body habitus becomes apparent in childhood

HPO:

³²

lipodystrophy, familial partial, type 4:
Inheritance autosomal dominant 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 613877

Orphanet ⁵⁹ ORPHA280356

ICD10 via Orphanet ³⁴ E88.1

MedGen ⁴² C3151268

MeSH ⁴⁴ D052496

SNOMED-CT via HPO ⁶⁹ 263681008 69878008 15296000 more

UMLS ⁷³ C3151268

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Summaries for Lipodystrophy, Familial Partial, Type 4

OMIM : ⁵⁷ Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). (613877)

MalaCards based summary : Lipodystrophy, Familial Partial, Type 4, is also known as fpld4. An important gene associated with Lipodystrophy, Familial Partial, Type 4 is PLIN1 (Perilipin 1). Affiliated tissues include skin, ovary and skeletal muscle, and related phenotypes are hypertension and lipoatrophy

UniProtKB/Swiss-Prot : ⁷⁵ Lipodystrophy, familial partial, 4: A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension.

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Related Diseases for Lipodystrophy, Familial Partial, Type 4

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

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Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Vascular:
hypertension

Endocrine Features:
oligomenorrhea
cushingoid appearance (2 patients)
diabetes mellitus, insulin-resistant
ovarian hyperandrogenemia

Laboratory Abnormalities:
increased serum triglycerides

Head And Neck Face:
normal facial adipose tissue
cushingoid appearance (2 patients)

Skin Nails Hair Skin:
acanthosis nigricans

Muscle Soft Tissue:
partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)
no lipodystrophy in face and neck
muscular appearance
muscular hypertrophy
loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs
more

Abdomen Liver:
steatosis

Head And Neck Neck:
normal cervical adipose tissue

Clinical features from OMIM:

613877

Human phenotypes related to Lipodystrophy, Familial Partial, Type 4:

⁵⁹ ³² (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertension ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0000822
2	lipoatrophy ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0100578
3	hypertriglyceridemia ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0002155
4	acanthosis nigricans ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0000956
5	hepatic steatosis ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0001397
6	hyperinsulinemia ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0000842
7	hepatic fibrosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001395
8	polycystic ovaries ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000147
9	infertility ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000789
10	calf muscle hypertrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008981
11	loss of subcutaneous adipose tissue in limbs ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003635
12	insulin-resistant diabetes mellitus at puberty ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0000877
13	reduced subcutaneous adipose tissue ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003758
14	loss of gluteal subcutaneous adipose tissue ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009017
15	oligomenorrhea ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000876
16	diabetes mellitus ³²			HP:0000819
17	skeletal muscle hypertrophy ³²			HP:0003712
18	abnormality of circulating hormone level ⁵⁹		Frequent (79-30%)

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Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 4

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Familial Partial, Type 4

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Genetic Tests for Lipodystrophy, Familial Partial, Type 4

Genetic tests related to Lipodystrophy, Familial Partial, Type 4:

#	Genetic test	Affiliating Genes
1	Familial Partial Lipodystrophy 4 ²⁹	PLIN1

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Anatomical Context for Lipodystrophy, Familial Partial, Type 4

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 4:

⁴¹

Skin, Ovary, Skeletal Muscle, Adipocyte

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Publications for Lipodystrophy, Familial Partial, Type 4

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Genes for Lipodystrophy, Familial Partial, Type 4

Genes related to Lipodystrophy, Familial Partial, Type 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PLIN1	Perilipin 1	Protein Coding	1350	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹	21345103

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Variations for Lipodystrophy, Familial Partial, Type 4

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PLIN1	PLIN1, IVS8AS, G-T, -1	single nucleotide variant	Pathogenic
2	PLIN1	PLIN1, 2-BP DEL, 1191AG	deletion	Pathogenic

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Expression for Lipodystrophy, Familial Partial, Type 4

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 4.

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Pathways for Lipodystrophy, Familial Partial, Type 4

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GO Terms for Lipodystrophy, Familial Partial, Type 4

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