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

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
Specificity
2 %
Genes
100 %
SH2B1.

By Fulgent Genetics Fulgent Genetics (United States).

SH2B1
Specificity
100 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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