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

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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, heterogeneous

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 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
2GCKp.Thr65IleVAR_078243
3GCKp.Val91LeuVAR_078244
4GCKp.Trp99CysVAR_078245
5GCKp.Glu442LysVAR_078257

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

5 (show all 32)
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 variantPathogenic
6ABCC8NM_ 001287174.1(ABCC8): c.2147G> T (p.Gly716Val)SNVPathogenicrs72559723GRCh37Chr 11, 17448671: 17448671
7ABCC8NM_ 001287174.1(ABCC8): c.2800C> T (p.Arg934Ter)SNVPathogenic/ Likely pathogenicrs570388861GRCh38Chr 11, 17408415: 17408415
8ABCC8NM_ 001287174.1(ABCC8): c.2509C> T (p.Arg837Ter)SNVPathogenic/ Likely 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)SNVPathogenic/ Likely pathogenicrs761749884GRCh37Chr 11, 17491729: 17491729
12ABCC8NM_ 000352.4(ABCC8): c.4119+1G> ASNVPathogenicrs797045211GRCh38Chr 11, 17396915: 17396915
13ABCC8NM_ 000352.4(ABCC8): c.563A> G (p.Asn188Ser)SNVPathogenic/ Likely pathogenicrs797045213GRCh38Chr 11, 17463454: 17463454
14ABCC8NM_ 000352.4(ABCC8): c.4306C> T (p.Arg1436Ter)SNVPathogenic/ Likely pathogenicrs193922402GRCh37Chr 11, 17417158: 17417158
15ABCC8NM_ 000352.4(ABCC8): c.3748C> T (p.Arg1250Ter)SNVPathogenicrs1057516281GRCh37Chr 11, 17419891: 17419891
16ABCC8NM_ 000352.4(ABCC8): c.1630+1G> TSNVPathogenicrs773306994GRCh37Chr 11, 17464266: 17464266
17ABCC8NM_ 000352.4(ABCC8): c.584dupA (p.Tyr195Terfs)duplicationPathogenicrs1057517199GRCh38Chr 11, 17461821: 17461821
18ABCC8ABCC8, EX13DELdeletionPathogenic
19ABCC8ABCC8, 1-BP DUP, 512TduplicationPathogenic
20ABCC8ABCC8, IVS8, A-G, -1013SNVPathogenic
21ABCC8NM_ 001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln)SNVPathogenicrs387906407GRCh37Chr 11, 17417157: 17417157
22ABCC8NM_ 001287174.1(ABCC8): c.3992-9G> ASNVPathogenicrs151344623GRCh37Chr 11, 17418602: 17418602
23ABCC8ABCC8, IVS, G-A, -1SNVPathogenic
24ABCC8ABCC8, BRANCH POINT, A-G, -20SNVPathogenic
25ABCC8ABCC8, EX35, G-ASNVPathogenic
26ABCC8NM_ 001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro)SNVPathogenicrs28936370GRCh37Chr 11, 17418527: 17418527
27ABCC8NM_ 001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys)SNVPathogenicrs28938469GRCh37Chr 11, 17417206: 17417206
28ABCC8NM_ 000352.4(ABCC8): c.4477C> T (p.Arg1493Trp)SNVPathogenic/ Likely pathogenicrs28936371GRCh37Chr 11, 17415881: 17415881
29ABCC8NM_ 001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys)SNVPathogenicrs137852671GRCh37Chr 11, 17415842: 17415842
30ABCC8NM_ 000352.4(ABCC8): c.560T> A (p.Val187Asp)SNVPathogenicrs137852672GRCh37Chr 11, 17485004: 17485004
31ABCC8NM_ 001287174.1(ABCC8): c.4159_ 4161delTCC (p.Ser1387del)deletionPathogenicrs387906408GRCh37Chr 11, 17417439: 17417441
32ABCC8ABCC8, -64C-GSNVPathogenic

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
1cellular glucose homeostasisGO:00016789.6ABCC8, GCK
2regulation 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