MCID: GNR045
MIFTS: 7

Generalized Lipodystrophy-Associated Progeroid Syndrome

Categories: Rare diseases

Aliases & Classifications for Generalized Lipodystrophy-Associated Progeroid Syndrome

MalaCards integrated aliases for Generalized Lipodystrophy-Associated Progeroid Syndrome:

Name: Generalized Lipodystrophy-Associated Progeroid Syndrome 52
Generalized Progeroid Lipodystrophy Due to Lmna T10i Mutation 52

Classifications:



Summaries for Generalized Lipodystrophy-Associated Progeroid Syndrome

MalaCards based summary : Generalized Lipodystrophy-Associated Progeroid Syndrome, also known as generalized progeroid lipodystrophy due to lmna t10i mutation, is related to mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and atypical werner syndrome. An important gene associated with Generalized Lipodystrophy-Associated Progeroid Syndrome is LMNA (Lamin A/C).

Related Diseases for Generalized Lipodystrophy-Associated Progeroid Syndrome

Diseases related to Generalized Lipodystrophy-Associated Progeroid Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.3
2 atypical werner syndrome 10.3
3 progeroid syndrome 10.3
4 acanthosis nigricans 10.2
5 hypertriglyceridemia, familial 10.2
6 hutchinson-gilford progeria syndrome 10.2
7 mandibuloacral dysplasia with type a lipodystrophy 10.2
8 adrenomyodystrophy 10.2
9 fatty liver disease, nonalcoholic 1 10.2
10 lipid metabolism disorder 10.2
11 fatty liver disease 10.2

Graphical network of the top 20 diseases related to Generalized Lipodystrophy-Associated Progeroid Syndrome:



Diseases related to Generalized Lipodystrophy-Associated Progeroid Syndrome

Symptoms & Phenotypes for Generalized Lipodystrophy-Associated Progeroid Syndrome

Drugs & Therapeutics for Generalized Lipodystrophy-Associated Progeroid Syndrome

Search Clinical Trials , NIH Clinical Center for Generalized Lipodystrophy-Associated Progeroid Syndrome

Genetic Tests for Generalized Lipodystrophy-Associated Progeroid Syndrome

Anatomical Context for Generalized Lipodystrophy-Associated Progeroid Syndrome

Publications for Generalized Lipodystrophy-Associated Progeroid Syndrome

Articles related to Generalized Lipodystrophy-Associated Progeroid Syndrome:

# Title Authors PMID Year
1
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. 61
31708526 2020
2
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. 61
29267953 2018

Variations for Generalized Lipodystrophy-Associated Progeroid Syndrome

Expression for Generalized Lipodystrophy-Associated Progeroid Syndrome

Search GEO for disease gene expression data for Generalized Lipodystrophy-Associated Progeroid Syndrome.

Pathways for Generalized Lipodystrophy-Associated Progeroid Syndrome

GO Terms for Generalized Lipodystrophy-Associated Progeroid Syndrome

Sources for Generalized Lipodystrophy-Associated Progeroid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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