HHF6
MCID: HYP807
MIFTS: 47

Hyperinsulinemic Hypoglycemia, Familial, 6 (HHF6)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 6

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 6:

Name: Hyperinsulinemic Hypoglycemia, Familial, 6 58 74
Hyperinsulinism-Hyperammonemia Syndrome 58 12 54 60 76 30 13 56 6 41
Familial Hyperinsulinemic Hypoglycemia 6 12 76 15
Hhf6 58 12 76
Hi/ha Syndrome 12 60
Hyperinsulinemic Hypoglycemia Familial 6 54
Hyperinsulinism Hyperammonemia Syndrome 54
Ha/hi Syndrome 54
Hhs 76

Characteristics:

Orphanet epidemiological data:

60
hyperinsulinism-hyperammonemia syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )
mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)


HPO:

33
hyperinsulinemic hypoglycemia, familial, 6:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070217
OMIM 58 606762
ICD10 via Orphanet 35 E72.8
Orphanet 60 ORPHA35878
MedGen 43 C1847555
UMLS 74 C1847555

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 6

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 35878Disease definitionHyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.EpidemiologyPrevalence is estimated at 1 in 200,000.Clinical descriptionClinical features are similar to those described in congenital isolated hyperinsulinism (see this term), but the manifestations are milder with diagnosis delayed until late infancy. Hypoglycemia is triggered by fasting or a protein-rich meal (leucine sensitive hypoglycemia) and is easily controlled by diazoxide. Asymptomatic and persistent hyperammonemia (about 3 to 5 times the normal range) is observed. Children with HIHA frequently present seizures (most commonly atypical or absence) and learning difficulties. Neurologic abnormalities appear to be unrelated to hypoglycemia.EtiologyGlutamate dehydrogenase (GDH) is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate, yielding alpha-ketoglutarate and an ammonia by-product. Production of alpha-ketoglutarate leads to an increase in intracellular ATP causing the closure of ATP-sensitive potassium channels (SUR1/Kir6.2). This in turn leads to an influx of calcium ions and the ensuing cellular depolarization triggers the secretion of insulin from pancreatic beta-cells. GDH is under a complex regulatory control of allosterically activating leucine and inhibiting GTP. Dominantly expressed, missense mutations of GLUD1 (10q23.3) that encodes GDH, increase enzyme activity by reducing its sensitivity to allosteric inhibition by guanosine triphosphate (GTP). The role of hyperammonemia is not known; it may primarily be the result of the renal expression of altered forms of GDH.Genetic counselingMost activating mutations of the geneGLUD1 are de novo, but the familial forms that have been reported are dominant. Incomplete variance and clinical variability are noted within the same families.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 6, also known as hyperinsulinism-hyperammonemia syndrome, is related to hyperinsulinism and hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 6 is GLUD1 (Glutamate Dehydrogenase 1), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. The drugs Tocopherol and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and myeloid, and related phenotypes are intellectual disability and hyperinsulinemic hypoglycemia

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has material basis in mutation in the GLUD1 gene on chromosome 10q23.3.

UniProtKB/Swiss-Prot : 76 Familial hyperinsulinemic hypoglycemia 6: Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. In HHF6 elevated oxidation rate of glutamate to alpha- ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver.

Description from OMIM: 606762

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 6

Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic Hypoglycemia, Familial, 5 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 7

Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinism 31.0 GLUD1 HADH INS
2 hypoglycemia 30.2 GLUD1 HADH INS
3 hyperinsulinemic hypoglycemia 29.6 GLUD1 HADH INS
4 hypotrichosis 1 11.9
5 tumoral calcinosis, hyperphosphatemic, familial, 1 11.9
6 hemochromatosis, type 1 11.8
7 dyskeratosis congenita, x-linked 11.7
8 hypogonadotropic hypogonadism 7 with or without anosmia 11.6
9 heart-hand syndrome, slovenian type 11.6
10 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.4
11 hypothalamic hamartomas 11.2
12 charge syndrome 11.2
13 dyskeratosis congenita, autosomal dominant 1 11.1
14 hypogonadotropic hypogonadism 2 with or without anosmia 11.1
15 dyskeratosis congenita, autosomal recessive 5 11.1
16 kallmann syndrome 11.1
17 hypotrichosis simplex 11.1
18 hypogonadotropic hypogonadism 3 with or without anosmia 10.9
19 hypogonadotropic hypogonadism 4 with or without anosmia 10.9
20 hypogonadotropic hypogonadism 5 with or without anosmia 10.9
21 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
22 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
23 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
24 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
25 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
26 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
27 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
36 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
37 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
38 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
39 pallister-hall syndrome 10.4
40 hyperinsulinemic hypoglycemia, familial, 2 10.3
41 hyperinsulinemic hypoglycemia, familial, 3 10.3
42 hyperinsulinemic hypoglycemia, familial, 5 10.3
43 hyperinsulinemic hypoglycemia, familial, 4 10.3
44 seizure disorder 10.3
45 influenza 10.2
46 childhood absence epilepsy 10.2
47 fasting hypoglycemia 10.2
48 dumping syndrome 10.1
49 basal cell carcinoma 1 10.1
50 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 6:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 6

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 6

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 6:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 hyperinsulinemic hypoglycemia 33 HP:0000825
3 hypoglycemic seizures 33 HP:0002173
4 hypoglycemic coma 33 HP:0001325
5 asymptomatic hyperammonemia 33 HP:0008162

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia
hyperammonemia, asymptomatic (2-5 times normal)

Neurologic Central Nervous System:
seizures, hypoglycemic
loss of consciousness due to hypoglycemia
mental retardation due to repeated episodes of hypoglycemia

Endocrine Features:
hyperinsulinemic hypoglycemia

Clinical features from OMIM:

606762

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.92 HADH INS OGDH WDTC1

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 6

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
2
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
3 Tocotrienol Investigational Not Applicable 6829-55-6
4 Antioxidants Not Applicable
5 Tocopherols Not Applicable
6 Nutrients Not Applicable
7 Trace Elements Not Applicable
8 Vitamins Not Applicable
9 Tocotrienols Not Applicable
10 Micronutrients Not Applicable
11 Protective Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222 Not Applicable

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 6

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 6

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 6:

# Genetic test Affiliating Genes
1 Hyperinsulinism-Hyperammonemia Syndrome 30 GLUD1

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 6

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 6:

42
Liver, Heart, Myeloid, Testes, Lung, Breast, Pancreas

Publications for Hyperinsulinemic Hypoglycemia, Familial, 6

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 6:

(show all 28)
# Title Authors Year
1
Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures. ( 30425915 )
2018
2
Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients. ( 26759084 )
2016
3
Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation. ( 26962538 )
2016
4
Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature. ( 27383869 )
2016
5
Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome. ( 28621098 )
2016
6
Intractable absence seizures in hyperinsulinism-hyperammonemia syndrome. ( 22759688 )
2012
7
Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome. ( 21932603 )
2011
8
The hyperinsulinism/hyperammonemia syndrome. ( 20936362 )
2010
9
Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report. ( 21073125 )
2010
10
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome. ( 19895831 )
2010
11
Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/hyperammonemia syndrome. ( 20332361 )
2010
12
Hyperammonemia and positive allopurinol test in hyperinsulinism-hyperammonemia syndrome: Taiwanese case report. ( 19379266 )
2009
13
Unregulated insulin secretion by pancreatic beta cells in hyperinsulinism/hyperammonemia syndrome: role of glutamate dehydrogenase, ATP-sensitive potassium channel, and nonselective cation channel. ( 16492972 )
2006
14
Hyperinsulinism/Hyperammonemia Syndrome: a synopsis. ( 15773041 )
2005
15
Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome. ( 14967154 )
2004
16
Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism. ( 15050973 )
2004
17
[Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide]. ( 15530324 )
2004
18
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. ( 11241047 )
2001
19
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. ( 11214910 )
2001
20
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. ( 11297618 )
2001
21
Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. ( 11502802 )
2001
22
Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators. ( 10871207 )
2000
23
Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment. ( 10969108 )
2000
24
Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome. ( 10636977 )
2000
25
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics. ( 10453735 )
1999
26
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. ( 9469993 )
1998
27
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. ( 9571255 )
1998
28
Clinical and molecular heterogeneity of familial hyperinsulinism. ( 9843361 )
1998

Variations for Hyperinsulinemic Hypoglycemia, Familial, 6

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 6:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 GLUD1 p.Ser498Leu VAR_008666 rs121909731
2 GLUD1 p.Gly499Asp VAR_008667 rs121909734
3 GLUD1 p.Gly499Ser VAR_008668 rs121909733
4 GLUD1 p.Ser501Pro VAR_008669 rs121909732
5 GLUD1 p.His507Tyr VAR_008670 rs121909730
6 GLUD1 p.Arg318Lys VAR_009270 rs121909736
7 GLUD1 p.Glu349Ala VAR_009271 rs121909735
8 GLUD1 p.Ser270Cys VAR_016760
9 GLUD1 p.Arg274Cys VAR_016761 rs56275071
10 GLUD1 p.Arg318Thr VAR_016762
11 GLUD1 p.Tyr319Cys VAR_016763
12 GLUD1 p.Arg322Cys VAR_016764
13 GLUD1 p.Arg322His VAR_016765 rs121909737

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 6:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLUD1 NM_005271.3(GLUD1): c.1519C> T (p.His507Tyr) single nucleotide variant Pathogenic rs121909730 GRCh37 Chromosome 10, 88813137: 88813137
2 GLUD1 NM_005271.3(GLUD1): c.1519C> T (p.His507Tyr) single nucleotide variant Pathogenic rs121909730 GRCh38 Chromosome 10, 87053380: 87053380
3 GLUD1 NM_005271.3(GLUD1): c.1493C> T (p.Ser498Leu) single nucleotide variant Pathogenic rs121909731 GRCh37 Chromosome 10, 88817449: 88817449
4 GLUD1 NM_005271.3(GLUD1): c.1493C> T (p.Ser498Leu) single nucleotide variant Pathogenic rs121909731 GRCh38 Chromosome 10, 87057692: 87057692
5 GLUD1 NM_005271.4(GLUD1): c.1501T> C (p.Ser501Pro) single nucleotide variant Pathogenic rs121909732 GRCh37 Chromosome 10, 88813155: 88813155
6 GLUD1 NM_005271.4(GLUD1): c.1501T> C (p.Ser501Pro) single nucleotide variant Pathogenic rs121909732 GRCh38 Chromosome 10, 87053398: 87053398
7 GLUD1 NM_005271.4(GLUD1): c.1495G> A (p.Gly499Ser) single nucleotide variant Pathogenic rs121909733 GRCh37 Chromosome 10, 88813161: 88813161
8 GLUD1 NM_005271.4(GLUD1): c.1495G> A (p.Gly499Ser) single nucleotide variant Pathogenic rs121909733 GRCh38 Chromosome 10, 87053404: 87053404
9 GLUD1 NM_005271.4(GLUD1): c.1496G> A (p.Gly499Asp) single nucleotide variant Pathogenic rs121909734 GRCh37 Chromosome 10, 88813160: 88813160
10 GLUD1 NM_005271.4(GLUD1): c.1496G> A (p.Gly499Asp) single nucleotide variant Pathogenic rs121909734 GRCh38 Chromosome 10, 87053403: 87053403
11 GLUD1 NM_005271.4(GLUD1): c.1046A> C (p.Glu349Ala) single nucleotide variant Pathogenic rs121909735 GRCh37 Chromosome 10, 88820685: 88820685
12 GLUD1 NM_005271.4(GLUD1): c.1046A> C (p.Glu349Ala) single nucleotide variant Pathogenic rs121909735 GRCh38 Chromosome 10, 87060928: 87060928
13 GLUD1 NM_005271.4(GLUD1): c.953G> A (p.Arg318Lys) single nucleotide variant Pathogenic rs121909736 GRCh37 Chromosome 10, 88820778: 88820778
14 GLUD1 NM_005271.4(GLUD1): c.953G> A (p.Arg318Lys) single nucleotide variant Pathogenic rs121909736 GRCh38 Chromosome 10, 87061021: 87061021
15 GLUD1 NM_005271.4(GLUD1): c.820C> T (p.Arg274Cys) single nucleotide variant Pathogenic rs56275071 GRCh37 Chromosome 10, 88822514: 88822514
16 GLUD1 NM_005271.4(GLUD1): c.820C> T (p.Arg274Cys) single nucleotide variant Pathogenic rs56275071 GRCh38 Chromosome 10, 87062757: 87062757
17 GLUD1 NM_005271.4(GLUD1): c.965G> A (p.Arg322His) single nucleotide variant Pathogenic rs121909737 GRCh37 Chromosome 10, 88820766: 88820766
18 GLUD1 NM_005271.4(GLUD1): c.965G> A (p.Arg322His) single nucleotide variant Pathogenic rs121909737 GRCh38 Chromosome 10, 87061009: 87061009
19 GLUD1 NM_005271.4(GLUD1): c.342T> C (p.His114=) single nucleotide variant Benign/Likely benign rs142544510 GRCh37 Chromosome 10, 88854185: 88854185
20 GLUD1 NM_005271.4(GLUD1): c.342T> C (p.His114=) single nucleotide variant Benign/Likely benign rs142544510 GRCh38 Chromosome 10, 87094428: 87094428
21 GLUD1 NM_005271.4(GLUD1): c.942A> G (p.Leu314=) single nucleotide variant Benign/Likely benign rs9421572 GRCh37 Chromosome 10, 88820789: 88820789
22 GLUD1 NM_005271.4(GLUD1): c.942A> G (p.Leu314=) single nucleotide variant Benign/Likely benign rs9421572 GRCh38 Chromosome 10, 87061032: 87061032
23 GLUD1 NM_005271.4(GLUD1): c.1498G> A (p.Ala500Thr) single nucleotide variant Likely pathogenic rs797045597 GRCh38 Chromosome 10, 87053401: 87053401
24 GLUD1 NM_005271.4(GLUD1): c.1498G> A (p.Ala500Thr) single nucleotide variant Likely pathogenic rs797045597 GRCh37 Chromosome 10, 88813158: 88813158
25 GLUD1 NM_005271.4(GLUD1): c.446-2_446-1insCCACCA insertion Uncertain significance rs753723749 GRCh38 Chromosome 10, 87076657: 87076658
26 GLUD1 NM_005271.4(GLUD1): c.446-2_446-1insCCACCA insertion Uncertain significance rs753723749 GRCh37 Chromosome 10, 88836414: 88836415
27 GLUD1 NM_005271.4(GLUD1): c.1496G> T (p.Gly499Val) single nucleotide variant Pathogenic rs121909734 GRCh38 Chromosome 10, 87053403: 87053403
28 GLUD1 NM_005271.4(GLUD1): c.1496G> T (p.Gly499Val) single nucleotide variant Pathogenic rs121909734 GRCh37 Chromosome 10, 88813160: 88813160
29 GLUD1 NM_005271.4(GLUD1): c.104G> A (p.Gly35Glu) single nucleotide variant Benign/Likely benign rs552066337 GRCh37 Chromosome 10, 88854423: 88854423
30 GLUD1 NM_005271.4(GLUD1): c.104G> A (p.Gly35Glu) single nucleotide variant Benign/Likely benign rs552066337 GRCh38 Chromosome 10, 87094666: 87094666
31 GLUD1 NM_005271.4(GLUD1): c.630A> G (p.Ala210=) single nucleotide variant Conflicting interpretations of pathogenicity rs368203417 GRCh37 Chromosome 10, 88834324: 88834324
32 GLUD1 NM_005271.4(GLUD1): c.630A> G (p.Ala210=) single nucleotide variant Conflicting interpretations of pathogenicity rs368203417 GRCh38 Chromosome 10, 87074567: 87074567
33 GLUD1 NM_005271.4(GLUD1): c.646+16_646+17delTA deletion Benign rs201141455 GRCh37 Chromosome 10, 88834291: 88834292
34 GLUD1 NM_005271.4(GLUD1): c.646+16_646+17delTA deletion Benign rs201141455 GRCh38 Chromosome 10, 87074534: 87074535
35 GLUD1 NM_005271.4(GLUD1): c.909A> C (p.Thr303=) single nucleotide variant Benign rs113997422 GRCh37 Chromosome 10, 88822425: 88822425
36 GLUD1 NM_005271.4(GLUD1): c.909A> C (p.Thr303=) single nucleotide variant Benign rs113997422 GRCh38 Chromosome 10, 87062668: 87062668
37 GLUD1 NM_005271.4(GLUD1): c.1442A> T (p.His481Leu) single nucleotide variant Uncertain significance rs1169592069 GRCh37 Chromosome 10, 88817500: 88817500
38 GLUD1 NM_005271.4(GLUD1): c.1442A> T (p.His481Leu) single nucleotide variant Uncertain significance rs1169592069 GRCh38 Chromosome 10, 87057743: 87057743
39 GLUD1 NM_001318905.1(GLUD1): c.599A> G (p.Tyr200Cys) single nucleotide variant Uncertain significance rs766896575 GRCh38 Chromosome 10, 87060785: 87060785
40 GLUD1 NM_001318905.1(GLUD1): c.599A> G (p.Tyr200Cys) single nucleotide variant Uncertain significance rs766896575 GRCh37 Chromosome 10, 88820542: 88820542

Expression for Hyperinsulinemic Hypoglycemia, Familial, 6

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 6.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 6

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 GLUD1 HADH HPGDS INS OGDH TXN
2 11.62 GLUD1 INS TXN
3 11.09 HADH OGDH
4 10.96 INS TXN
5 10.8 HADH INS
6 10.76 GLUD1 HADH OGDH

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 6

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 GLUD1 HADH OGDH

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose metabolic process GO:0006006 9.16 INS WDTC1
2 activation of protein kinase B activity GO:0032148 8.96 INS TXN
3 oxidation-reduction process GO:0055114 8.92 GLUD1 HADH OGDH TXN

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.13 GLUD1 HADH OGDH
2 NAD+ binding GO:0070403 8.62 GLUD1 HADH

Sources for Hyperinsulinemic Hypoglycemia, Familial, 6

3 CDC
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29 GO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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