LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
FPLD5
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615238
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
2
(HPO:0002240) Hepatomegaly 467 / 7739
3
(HPO:0001397) Hepatic steatosis 75 / 7739
4
(HPO:0000956) Acanthosis nigricans 54 / 7739
5
(HPO:0002155) Hypertriglyceridemia 67 / 7739
6
(HPO:0003119) Abnormality of lipid metabolism 60 / 7739
7
(HPO:0009125) Lipodystrophy 54 / 7739
8
(OMIM) Decreased adiponectin 1 / 7739
9
(OMIM) Increased resting metabolic rate 1 / 7739
10
(OMIM) Adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet 1 / 7739
11
(OMIM) Decreased leptin 1 / 7739
12
(OMIM) Secondary pancreatitis 1 / 7739
13
(OMIM) Muscular appearance 3 / 7739
14
(OMIM) Increased focal mitochondrial density 1 / 7739
15
(OMIM) Lack of adipose tissue on limbs and femorogluteal regions 1 / 7739
16
(OMIM) Preservation of visceral, neck, and axillary fat pads 1 / 7739
17
(OMIM) Normal adipose tissue around the neck 1 / 7739
18
(MedDRA:10053857) Partial lipodystrophy 8 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) Normal adipose tissue on the face 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rubio-Cabezas et al. (2009) reported a 19-year-old Ecuadorian girl who presented with partial lipodystrophy and insulin-resistant diabetes mellitus. She had muscular lower limbs and acanthosis nigricans, but no signs of virilization. Menarche occurred at age 12 years and ...
Molecular genetics OMIM In a 19-year-old Ecuadorian girl with partial lipodystrophy and insulin-resistant diabetes mellitus, Rubio-Cabezas et al. (2009) identified a homozygous truncating mutation in the CIDEC gene (E186X; 612120.0001). The observations suggested that CIDEC is required for unilocular lipid droplet ...