Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency

Description

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting
  • Diarrhea
  • Hyperhidrosis
  • Pallor
  • Lethargy

And another 16 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Congenital Hyperinsulinism Evaluation.

By Athena Diagnostics Inc (United States).

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
Neonatal Diabetes Mellitus Evaluation.

By Athena Diagnostics Inc (United States).

GCK, ABCC8, INS, PDX1, KCNJ11
Specificity
20 %
Genes
100 %
ABCC8 (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

ABCC8
Specificity
100 %
Genes
100 %
ABCC8 (CH) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

ABCC8
Specificity
100 %
Genes
100 %

We have 105 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK NAIL-PATELLA SYNDROME GALLBLADDER DISEASE 1; GBD1 CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP HYPERLIPOPROTEINEMIA, TYPE III

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more