MCID: FML227
MIFTS: 18

Familial Partial Lipodystrophy Due to Akt2 Mutations

Categories: Rare diseases, Skin diseases, Endocrine diseases, Genetic diseases, Fetal diseases, Metabolic diseases, Cardiovascular 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 53
Akt2-Related Familial Partial Lipodystrophy 53 59 29
Akt2-Related Fpld 53 59

Characteristics:

Orphanet epidemiological data:

59
akt2-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA79085
ICD10 via Orphanet 34 E88.1

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). Affiliated tissues include ovary and skin, and related phenotypes are lipodystrophy and acanthosis nigricans

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 59 32 obligate (100%) Obligate (100%) HP:0009125
2 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
3 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
4 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
5 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 decreased serum leptin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003292
7 increased intraabdominal fat 59 32 hallmark (90%) Very frequent (99-80%) HP:0008993
8 decreased adiponectin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030685
9 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
10 insulin-resistant diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000831
11 oligomenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000876
12 insulin resistance 59 Obligate (100%)
13 combined hyperlipidemia 59 Very frequent (99-80%)

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

MalaCards organs/tissues related to Familial Partial Lipodystrophy Due to Akt2 Mutations:

41
Ovary, Skin

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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45 MESH via Orphanet
46 MGI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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