HHF3
MCID: HYP601
MIFTS: 30

Hyperinsulinemic Hypoglycemia, Familial, 3 (HHF3) malady

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

Aliases & Descriptions for Hyperinsulinemic Hypoglycemia, Familial, 3:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 54 13 69
Familial Hyperinsulinemic Hypoglycemia 3 66 29
Congenital Hyperinsulinism 66 69
Hhf3 50 66
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 56
Persistent Hyperinsulinemic Hypoglycemia of Infancy 66
Hyperinsulinism Due to Glucokinase Deficiency 56
Hyperinsulinemic Hypoglycemia Familial 3 50
Phhi 66

Characteristics:

Orphanet epidemiological data:

56
hyperinsulinism due to glucokinase deficiency
Inheritance: Autosomal dominant;

HPO:

32
hyperinsulinemic hypoglycemia, familial, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 602485
Orphanet 56 ORPHA79299
ICD10 via Orphanet 34 E16.1
MedGen 40 C1865290

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

UniProtKB/Swiss-Prot : 66 Familial hyperinsulinemic hypoglycemia 3: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 3, also known as familial hyperinsulinemic hypoglycemia 3, is related to hyperinsulinism due to glucokinase deficiency and hyperinsulinemic hypoglycemia, familial, 2, and has symptoms including diabetes mellitus, intellectual disability and hyperinsulinemic hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase), and among its related pathways/superpathways are Insulin secretion and Type II diabetes mellitus. Affiliated tissues include brain.

Description from OMIM: 602485

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 3

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 3:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 3

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 3

Symptoms by clinical synopsis from OMIM:

602485

Clinical features from OMIM:

602485

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 3:

32
id Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 intellectual disability 32 HP:0001249
3 hyperinsulinemic hypoglycemia 32 HP:0000825
4 hypoglycemic seizures 32 HP:0002173
5 hypoglycemic coma 32 HP:0001325

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 3

Search Clinical Trials , NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 3

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 3

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 3:

id Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 3 29

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 3:

39
Brain

Publications for Hyperinsulinemic Hypoglycemia, Familial, 3

Variations for Hyperinsulinemic Hypoglycemia, Familial, 3

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 3:

66
id Symbol AA change Variation ID SNP ID
1 GCK p.Val455Met VAR_003715 rs104894012
2 GCK p.Thr65Ile VAR_078243
3 GCK p.Val91Leu VAR_078244
4 GCK p.Trp99Cys VAR_078245
5 GCK p.Glu442Lys VAR_078257

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 3:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
2 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
3 ABCC8 ABCC8, IVS, G-A, -1 single nucleotide variant Pathogenic
4 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
5 ABCC8 ABCC8, EX35, G-A single nucleotide variant Pathogenic
6 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
7 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
8 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
9 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
10 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
11 ABCC8 NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417439: 17417441
12 ABCC8 ABCC8, -64C-G single nucleotide variant Pathogenic
13 GCK NM_000162.3(GCK): c.1363G> A (p.Val455Met) single nucleotide variant Pathogenic rs104894012 GRCh37 Chromosome 7, 44184770: 44184770
14 GCK NM_000162.3(GCK): c.1367C> T (p.Ala456Val) single nucleotide variant Pathogenic rs104894014 GRCh37 Chromosome 7, 44184766: 44184766
15 GCK NM_000162.3(GCK): c.641A> G (p.Tyr214Cys) single nucleotide variant Pathogenic rs104894015 GRCh37 Chromosome 7, 44189397: 44189397
16 GCK GCK, VAL91LEU undetermined variant Pathogenic
17 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
18 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
19 ABCC8 ABCC8, EX13DEL deletion Pathogenic
20 ABCC8 ABCC8, 1-BP DUP, 512T duplication Pathogenic
21 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
22 ABCC8 NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs) deletion Pathogenic rs587783169 GRCh38 Chromosome 11, 17404560: 17404560
23 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Pathogenic/Likely pathogenic rs570388861 GRCh38 Chromosome 11, 17408415: 17408415
24 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
25 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
26 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
27 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
28 ABCC8 NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 GRCh38 Chromosome 11, 17463454: 17463454
29 ABCC8 NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 GRCh37 Chromosome 11, 17491729: 17491729
30 ABCC8 NM_000352.4(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 GRCh37 Chromosome 11, 17419891: 17419891
31 ABCC8 NM_000352.4(ABCC8): c.1630+1G> T single nucleotide variant Pathogenic rs773306994 GRCh37 Chromosome 11, 17464266: 17464266
32 ABCC8 NM_000352.4(ABCC8): c.584dupA (p.Tyr195Terfs) duplication Pathogenic rs1057517199 GRCh38 Chromosome 11, 17461821: 17461821

Expression for Hyperinsulinemic Hypoglycemia, Familial, 3

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 3.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 3

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 3 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.55 ABCC8 GCK
2
Show member pathways
10.94 ABCC8 GCK
3 10.27 ABCC8 GCK

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 3

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of insulin secretion GO:0050796 8.96 ABCC8 GCK
2 cellular glucose homeostasis GO:0001678 8.62 ABCC8 GCK

Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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42 MeSH
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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