Familial partial lipodystrophy associated with PLIN1 mutations

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
FPLD4
Number of Symptoms 21
OrphanetNr: 280356
OMIM Id: 613877
ICD-10: E88.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease
Insulin-resistance syndrome
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000876) Oligomenorrhea 13 / 7739
2
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
3
 (HPO:0000819) Diabetes mellitus 131 / 7739
4
 (HPO:0001397) Hepatic steatosis 75 / 7739
5
 (HPO:0000956) Acanthosis nigricans 54 / 7739
6
 (HPO:0000822) Hypertension 224 / 7739
7
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
8
 (HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
9
 (HPO:0100578) Lipoatrophy 30 / 7739
10
 (OMIM) Cushingoid appearance (2 patients) 1 / 7739
11
 (MedDRA:10053857) Partial lipodystrophy 8 / 7739
12
 (OMIM) Biopsy of adipose tissue shows reduced adipocyte size 1 / 7739
13
 (OMIM) No lipodystrophy in face and neck 2 / 7739
14
 (OMIM) Muscular appearance 3 / 7739
15
 (OMIM) Loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs 1 / 7739
16
 (OMIM) Lipoatrophy of trunk 1 / 7739
17
 (OMIM) Normal cervical adipose tissue 1 / 7739
18
 (OMIM) Increased adipose fibrosis 1 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (OMIM) Ovarian hyperandrogenemia 1 / 7739
21
 (OMIM) Normal facial adipose tissue 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Gandotra et al. (2011) reported 3 unrelated adult female probands of white French ancestry with partial lipodystrophy. All had lipoatrophy predominantly affecting the gluteal region and lower limbs, although decreased subcutaneous adipose tissue was also noted on the ...
Molecular genetics OMIM In 3 French patients from 3 unrelated families with autosomal dominant partial lipodystrophy type 4, Gandotra et al. (2011) identified 2 different heterozygous mutations in the PLIN1 gene (170290.0001-170290.0002). Transfection studies in preadipocytes showed that the mutant proteins ...