MCID: FML227
MIFTS: 15

Familial Partial Lipodystrophy Due to Akt2 Mutations

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Partial Lipodystrophy Due to Akt2 Mutations

MalaCards integrated aliases for Familial Partial Lipodystrophy Due to Akt2 Mutations:

Name: Familial Partial Lipodystrophy Due to Akt2 Mutations 20
Akt2-Related Familial Partial Lipodystrophy 20 58 29
Akt2-Related Fpld 20 58

Characteristics:

Orphanet epidemiological data:

58
akt2-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E88.1
Orphanet 58 ORPHA79085

Summaries for Familial Partial Lipodystrophy Due to Akt2 Mutations

MalaCards based summary : Familial Partial Lipodystrophy Due to Akt2 Mutations, is also known as akt2-related familial partial lipodystrophy. An important gene associated with Familial Partial Lipodystrophy Due to Akt2 Mutations is AKT2 (AKT Serine/Threonine Kinase 2). Related phenotypes are lipodystrophy and hepatomegaly

Related Diseases for Familial Partial Lipodystrophy Due to Akt2 Mutations

Symptoms & Phenotypes for Familial Partial Lipodystrophy Due to Akt2 Mutations

Human phenotypes related to Familial Partial Lipodystrophy Due to Akt2 Mutations:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 58 31 obligate (100%) Obligate (100%) HP:0009125
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
4 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
5 acanthosis nigricans 58 31 hallmark (90%) Very frequent (99-80%) HP:0000956
6 increased intraabdominal fat 58 31 hallmark (90%) Very frequent (99-80%) HP:0008993
7 decreased serum leptin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003292
8 decreased adiponectin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030685
9 polycystic ovaries 58 31 frequent (33%) Frequent (79-30%) HP:0000147
10 insulin-resistant diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000831
11 oligomenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000876
12 combined hyperlipidemia 58 Very frequent (99-80%)
13 insulin resistance 58 Obligate (100%)

Drugs & Therapeutics for Familial Partial Lipodystrophy Due to Akt2 Mutations

Search Clinical Trials , NIH Clinical Center for Familial Partial Lipodystrophy Due to Akt2 Mutations

Genetic Tests for Familial Partial Lipodystrophy Due to Akt2 Mutations

Genetic tests related to Familial Partial Lipodystrophy Due to Akt2 Mutations:

# Genetic test Affiliating Genes
1 Akt2-Related Familial Partial Lipodystrophy 29

Anatomical Context for Familial Partial Lipodystrophy Due to Akt2 Mutations

Publications for Familial Partial Lipodystrophy Due to Akt2 Mutations

Variations for Familial Partial Lipodystrophy Due to Akt2 Mutations

Expression for Familial Partial Lipodystrophy Due to Akt2 Mutations

Search GEO for disease gene expression data for Familial Partial Lipodystrophy Due to Akt2 Mutations.

Pathways for Familial Partial Lipodystrophy Due to Akt2 Mutations

GO Terms for Familial Partial Lipodystrophy Due to Akt2 Mutations

Sources for Familial Partial Lipodystrophy Due to Akt2 Mutations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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