MCID: HYP601
MIFTS: 30

Hyperinsulinemic Hypoglycemia, Familial, 3 malady

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

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Aliases & Descriptions for Hyperinsulinemic Hypoglycemia, Familial, 3:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 52 12 68
Familial Hyperinsulinemic Hypoglycemia 3 70 27
Congenital Hyperinsulinism 70 68
Hhf3 48 70
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 54
 
Persistent Hyperinsulinemic Hypoglycemia of Infancy 70
Hyperinsulinism Due to Glucokinase Deficiency 54
Hyperinsulinemic Hypoglycemia Familial 3 48
Phhi 70

Characteristics:

Orphanet epidemiological data:

54

HPO:

64
hyperinsulinemic hypoglycemia, familial, 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 602485
Orphanet54 ORPHA79299
ICD10 via Orphanet31 E16.1
MedGen37 C1865290

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

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UniProtKB/Swiss-Prot:70 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, hyperinsulinemic hypoglycemia and intellectual disability. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase), and among its related pathways are Insulin secretion and Type II diabetes mellitus. Affiliated tissues include brain.

Description from OMIM:52 602485

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 3

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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

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Symptoms by clinical synopsis from OMIM:

602485

Clinical features from OMIM:

602485

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 3:

 64
id Description HPO Frequency HPO Source Accession
1 diabetes mellitus64 HP:0000819
2 hyperinsulinemic hypoglycemia64 HP:0000825
3 intellectual disability64 HP:0001249
4 hypoglycemic coma64 HP:0001325
5 hypoglycemic seizures64 HP:0002173

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 3

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Interventional clinical trials:

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

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 3

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Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 3:

id Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 327

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

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

36
Brain

Publications for Hyperinsulinemic Hypoglycemia, Familial, 3

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Variations for Hyperinsulinemic Hypoglycemia, Familial, 3

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

70
id Symbol AA change Variation ID SNP ID
1GCKp.Val455MetVAR_003715rs104894012

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

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCC8NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs)deletionPathogenicrs587783169GRCh38Chr 11, 17404560: 17404560
2GCKNM_000162.3(GCK): c.1363G> A (p.Val455Met)SNVPathogenicrs104894012GRCh37Chr 7, 44184770: 44184770
3GCKNM_000162.3(GCK): c.1367C> T (p.Ala456Val)SNVPathogenicrs104894014GRCh37Chr 7, 44184766: 44184766
4GCKNM_000162.3(GCK): c.641A> G (p.Tyr214Cys)SNVPathogenicrs104894015GRCh37Chr 7, 44189397: 44189397
5GCKGCK, VAL91LEUundetermined variantPathogenicChr na, -1: -1
6ABCC8NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val)SNVPathogenicrs72559723GRCh37Chr 11, 17448671: 17448671
7ABCC8NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter)SNVLikely pathogenic, Pathogenicrs570388861GRCh37Chr 11, 17429962: 17429962
8ABCC8NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter)SNVLikely pathogenic, Pathogenicrs72559722GRCh38Chr 11, 17412716: 17412716
9ABCC8NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del)deletionPathogenicrs151344624GRCh37Chr 11, 17417435: 17417437
10ABCC8NM_000352.4(ABCC8): c.2117-1G> ASNVPathogenicrs797045207GRCh37Chr 11, 17448702: 17448702
11ABCC8NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg)SNVLikely pathogenic, Pathogenicrs761749884GRCh37Chr 11, 17491729: 17491729
12ABCC8NM_000352.4(ABCC8): c.4119+1G> ASNVPathogenicrs797045211GRCh38Chr 11, 17396915: 17396915
13ABCC8NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser)SNVLikely pathogenic, Pathogenicrs797045213GRCh38Chr 11, 17463454: 17463454
14ABCC8NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter)SNVLikely pathogenic, Pathogenicrs193922402GRCh37Chr 11, 17417158: 17417158
15ABCC8ABCC8, EX13DELdeletionPathogenicChr na, -1: -1
16ABCC8ABCC8, 1-BP DUP, 512TduplicationPathogenicChr na, -1: -1
17ABCC8ABCC8, IVS8, A-G, -1013SNVPathogenicChr na, -1: -1
18ABCC8NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln)SNVPathogenicrs387906407GRCh37Chr 11, 17417157: 17417157
19ABCC8NM_001287174.1(ABCC8): c.3992-9G> ASNVPathogenicrs151344623GRCh37Chr 11, 17418602: 17418602
20ABCC8ABCC8, IVS, G-A, -1SNVPathogenicChr na, -1: -1
21ABCC8ABCC8, BRANCH POINT, A-G, -20SNVPathogenicChr na, -1: -1
22ABCC8ABCC8, EX35, G-ASNVPathogenicChr na, -1: -1
23ABCC8NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro)SNVPathogenicrs28936370GRCh37Chr 11, 17418527: 17418527
24ABCC8NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys)SNVPathogenicrs28938469GRCh37Chr 11, 17417206: 17417206
25ABCC8NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp)SNVLikely pathogenic, Pathogenicrs28936371GRCh37Chr 11, 17415881: 17415881
26ABCC8NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys)SNVPathogenicrs137852671GRCh37Chr 11, 17415842: 17415842
27ABCC8NM_001287174.1(ABCC8): c.560T> A (p.Val187Asp)SNVPathogenicrs137852672GRCh37Chr 11, 17485004: 17485004
28ABCC8NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del)deletionPathogenicrs387906408GRCh37Chr 11, 17417439: 17417441
29ABCC8ABCC8, -64C-GSNVPathogenicChr na, -1: -1

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 3

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

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 3

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ABCC8, GCK
2
Show member pathways
9.1ABCC8, GCK
39.1ABCC8, GCK

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 3

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

idNameGO IDScoreTop Affiliating Genes
1regulation of insulin secretionGO:00507969.1ABCC8, GCK

Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet