Hyperinsulinism Due To Ucp2 Deficiency

Description

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperinsulinism Due To Ucp2 Deficiency

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

And another 13 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.

Alternative names

Hyperinsulinism Due To Ucp2 Deficiency Is also known as hyperinsulinemic hypoglycemia due to ucp2 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.

Hyperinsulinism Due To Ucp2 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Comprehensive Familial Hyperinsulinism Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A1, HNF1A, UCP2, KDM6A, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11, KMT2D, PGM1, PMM2
Specificity
8 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SLC16A1, UCP2, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11
Specificity
12 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SLC16A1, UCP2, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11
Specificity
12 %
Genes
100 %
Congenital Hyperinsulinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC16A1, HNF1A, UCP2, GCK, GLUD1, HADH, HNF4A, ABCC8, KCNJ11
Specificity
12 %
Genes
100 %
UCP2.

By Department of Clinical Genetics St. Elisabeth Cancer Institute (Slovakia).

UCP2
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %

You can get up to 13 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 Symptoms Checker

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