Severe Early-onset Obesity-insulin Resistance Syndrome Due To Sh2b1 Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Severe Early-onset Obesity-insulin Resistance Syndrome Due To Sh2b1 Deficiency

SH2B1

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Early-onset Obesity-insulin Resistance Syndrome Due To Sh2b1 Deficiency

Short stature
Delayed speech and language development
Obesity
Elevated hepatic transaminase
Aggressive behavior
Hyperlipidemia
Hyperinsulinemia
Hyperglycemia
Polyphagia
Impaired social interactions

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Severe Early-onset Obesity-insulin Resistance Syndrome Due To Sh2b1 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SIM1, UCP3, KSR2, SH2B1, LEP, LEPR, MC4R, NR0B2, NTRK2, PCSK1, POMC Specificity 10 % Genes 100 %
Comprehensive Monogenic Obesity Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10 , (...) View the complete list with 31 more genes Panel complete gene list BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10, BBS12, C8orf37, WDPCP, BBIP1, TMEM67, CEP290, BBS9, SH2B1, DYRK1B, ALMS1, GNAS, MCHR1, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MKKS, MKS1, KMT2D, NR0B2, NTRK2, PCSK1, POMC, PPARG, BBS1, BBS2, BBS4, BBS5, RAI1 Specificity 2 % Genes 100 %
SH2B1. By Fulgent Genetics Fulgent Genetics (United States). SH2B1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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