Hyperinsulinism Due To Hnf1a Deficiency
Description
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.
Clinical Features
Top most frequent phenotypes and symptoms related to Hyperinsulinism Due To Hnf1a Deficiency
- Intellectual disability
 - Seizures
 - Hepatomegaly
 - Tremor
 - Fatigue
 - Vomiting
 - Diarrhea
 - Hyperhidrosis
 - Neonatal hypotonia
 - Elevated hepatic transaminase
 
And another 16 symptoms. If you need more information about this disease we can help you.
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 Hnf1a Deficiency Is also known as hyperinsulinemic hypoglycemia due to hnf1a 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 Hnf1a Deficiency Recommended genes panels
| Panel Name, Specifity and genes Tested/covered | 
|---|
 	MitoMet®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 %  | 
 	Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).
By Athena Diagnostics Inc (United States). 
HNF1A, HNF1B, GCK, HNF4A, PDX1
 
Specificity
 
20 % 
Genes
 
100 %  | 
 	HNF1A (MODY3) DNA Sequencing and Deletion Test.
By Athena Diagnostics Inc (United States). 
HNF1A
 
Specificity
 
100 % 
Genes
 
100 %  | 
 	Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).
By Athena Diagnostics Inc (United States). 
HNF1A, HNF1B, GCK, HNF4A
 
Specificity
 
25 % 
Genes
 
100 %  | 
 	Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B).
By Athena Diagnostics Inc (United States). 
HNF1A, HNF1B, GCK
 
Specificity
 
34 % 
Genes
 
100 %  | 
 	Monogenic Diabetes (MODY) Two Gene Evaluation (GCK,HNF1A).
By Athena Diagnostics Inc (United States). 
HNF1A, GCK
 
Specificity
 
50 % 
Genes
 
100 %  | 
 	Maturity-Onset Diabetes of the Young.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). 
BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS	, (...)
 
View the complete list with 5 more genes 
Specificity
 
4 % 
Genes
 
100 %  | 
 	Maturity-onset Diabetes of the Young Panel.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). 
BLK, HNF1A, HNF1B, KLF11, CEL, AKT2, GCK, HNF4A, ABCC8, INS, INSR, PDX1, KCNJ11, NEUROD1, PAX4
 
Specificity
 
7 % 
Genes
 
100 %  | 
You can get up to 93 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB CARNEY COMPLEX VARIANT WAISMAN SYNDROME; WSMN CUSHING DISEASE PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2
	MitoMet®Plus aCGH Analysis.