MCID: SVR045
MIFTS: 12

Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency

Categories: Endocrine diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

MalaCards integrated aliases for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency:

Name: Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

MalaCards based summary : Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency An important gene associated with Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency is SH2B1 (SH2B Adaptor Protein 1). Related phenotypes are hyperinsulinemia and obesity

Related Diseases for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Symptoms & Phenotypes for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Human phenotypes related to Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
2 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
3 polyphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002591
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
6 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
7 no social interaction 59 32 frequent (33%) Frequent (79-30%) HP:0008763
8 impaired social interactions 59 Very frequent (99-80%)
9 elevated hepatic transaminases 59 Excluded (0%)
10 hyperglycemia 59 Excluded (0%)
11 hyperlipidemia 59 Excluded (0%)

Drugs & Therapeutics for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Search Clinical Trials , NIH Clinical Center for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency

Genetic Tests for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Anatomical Context for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Publications for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Variations for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Expression for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Search GEO for disease gene expression data for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency.

Pathways for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

GO Terms for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

Sources for Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to...

3 CDC
7 CNVD
9 Cosmic
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
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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