MCID: SVR045
MIFTS: 10

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

Categories: Endocrine diseases, Metabolic diseases, Rare 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 58

Characteristics:

Orphanet epidemiological data:

58
severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
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 short stature 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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
3 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
4 polyphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002591
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
7 no social interaction 58 31 frequent (33%) Frequent (79-30%) HP:0008763
8 elevated hepatic transaminase 58 Excluded (0%)
9 hyperlipidemia 58 Excluded (0%)
10 hyperglycemia 58 Excluded (0%)
11 impaired social interactions 58 Very frequent (99-80%)

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 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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