MCID: HYP601
MIFTS: 27

Hyperinsulinemic Hypoglycemia, Familial, 3 malady

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

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Aliases & Descriptions for Hyperinsulinemic Hypoglycemia, Familial, 3:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 49 11 65
Familial Hyperinsulinemic Hypoglycemia 3 67 24
Congenital Hyperinsulinism 67 65
Hhf3 45 67
 
Persistent Hyperinsulinemic Hypoglycemia of Infancy 67
Hyperinsulinemic Hypoglycemia, Familial, 1 65
Hyperinsulinemic Hypoglycemia Familial 3 45
Phhi 67

Characteristics:

HPO:

61
hyperinsulinemic hypoglycemia, familial, 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 602485
MedGen34 C1865290
UMLS65 C1865290, C2931832, C3888018

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

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UniProtKB/Swiss-Prot:67 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 hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinemic hypoglycemia, familial, 5, and has symptoms including hypoglycemic seizures, hypoglycemic coma and intellectual disability. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase). Affiliated tissues include brain.

Description from OMIM:49 602485

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 3

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Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 7 Hyperinsulinemic Hypoglycemia, Familial, 4
hyperinsulinemic hypoglycemia, familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemia, Familial, 5

Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia, familial, 112.2
2hyperinsulinemic hypoglycemia, familial, 512.1
3hyperinsulinemic hypoglycemia, familial, 212.1
4hyperinsulinemic hypoglycemia, familial, 411.8
5hyperinsulinism-hyperammonemia syndrome10.6
6myelofibrosis10.5
7rheumatoid arthritis10.3
8neuroblastoma10.3
9myocardial infarction10.3
10medulloblastoma10.3
11systemic lupus erythematosus10.3
12malaria10.3
13esophageal cancer10.3
14renal cell carcinoma10.3
15peripheral vascular disease10.3
16acute myocardial infarction10.3
17arthritis10.3
18atherosclerosis10.3
19congestive heart failure10.3
20diabetic foot ulcers10.3
21intermittent claudication10.3
22leber congenital amaurosis10.3
23lymphedema10.3
24myasthenia gravis10.3
25primary ciliary dyskinesia10.3
26sinusitis10.3
27focal dystonia10.3
28atrial fibrillation10.3
29parotitis10.3
30dentin caries10.3
31antisocial personality disorder10.3
32gastroschisis10.3
33nephrotic syndrome10.3
34vaginal cancer10.3
35esophagitis10.3
36arachnoiditis10.3
37hypercalcemia10.3
38porphyria10.3
39cardiac sarcoidosis10.3
40basilar artery occlusion10.3
41interstitial cystitis10.3
42plasmodium falciparum malaria10.3
43bacteriuria10.3
44argyll robertson pupil10.3
45lymphangioma10.3
46personality disorder10.3
47cystitis10.3
48vascular disease10.3
49vaginitis10.3
50adenocarcinoma10.3

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



Diseases related to hyperinsulinemic hypoglycemia, familial, 3

Symptoms for Hyperinsulinemic Hypoglycemia, Familial, 3

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Symptoms by clinical synopsis from OMIM:

602485

Clinical features from OMIM:

602485

HPO human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 3:

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

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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Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

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

33
Brain

Animal Models for Hyperinsulinemic Hypoglycemia, Familial, 3 or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1GCKp.Val455MetVAR_003715

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GCKNM_000162.3(GCK): c.1363G> A (p.Val455Met)single nucleotide variantPathogenicrs104894012GRCh37Chr 7, 44184770: 44184770
2GCKNM_000162.3(GCK): c.1367C> T (p.Ala456Val)single nucleotide variantPathogenicrs104894014GRCh37Chr 7, 44184766: 44184766
3GCKNM_000162.3(GCK): c.641A> G (p.Tyr214Cys)single nucleotide variantPathogenicrs104894015GRCh37Chr 7, 44189397: 44189397
4GCKGCK, VAL91LEUundetermined variantPathogenic

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

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Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet