MCID: HYP304
MIFTS: 13

Hyperinsulinemic Hypoglycemia, Familial, 1 malady

Endocrine, Genetic categories

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

Sources:
47OMIM, 33MalaCards
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MalaCards: Hyperinsulinemic Hypoglycemia, Familial, 1, is also known as hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 1 is ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8). Affiliated tissues include brain.

Description from OMIM:47 256450

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 1

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Endocrine


Characteristics (Orphanet epidemiological data):

49
autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy
hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperinsulinemic hypoglycemia, familial, 1 47
hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form 49
autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency 49
autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency 49
diazoxide-resistant focal hyperinsulinism due to sur1 deficiency 49
autosomal recessive hyperinsulinism due to sur1 deficiency 49
autosomal dominant hyperinsulinism due to sur1 deficiency 49


External Ids:

OMIM47 256450
ICD10 via Orphanet26 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 1

Clinical Features for Hyperinsulinemic Hypoglycemia, Familial, 1

Sources:
47OMIM
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Clinical features from OMIM:

256450

Clinical synopsis from OMIM:

256450

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 1

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Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 1

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 1:

33
Brain

Animal Models for Hyperinsulinemic Hypoglycemia, Familial, 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetic Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 1:

63 (show all 60)
id Symbol AA change Variation SNP ID
1ABCC8p.Gly716ValVAR_000100
2ABCC8p.Arg1352ProVAR_008537rs28936370
3ABCC8p.Arg1420CysVAR_008539rs28938469
4ABCC8p.Arg1493TrpVAR_008540rs28936371
5ABCC8p.Arg74GlnVAR_008639
6ABCC8p.His125GlnVAR_008640rs60637558
7ABCC8p.Val187AspVAR_008641
8ABCC8p.Asn188SerVAR_008642
9ABCC8p.Asn406AspVAR_008644
10ABCC8p.Phe591LeuVAR_008646
11ABCC8p.Thr1138MetVAR_008649
12ABCC8p.Arg1214GlnVAR_008650
13ABCC8p.Gly1378ArgVAR_008653
14ABCC8p.Gly1381SerVAR_008654
15ABCC8p.Arg1393HisVAR_008655
16ABCC8p.Gly1478ArgVAR_008656
17ABCC8p.Val1360MetVAR_015007
18ABCC8p.Arg1436GlnVAR_015008
19ABCC8p.Glu1506LysVAR_015009
20ABCC8p.Leu1543ProVAR_015010
21ABCC8p.Gly7ArgVAR_031349
22ABCC8p.Val21AspVAR_031350
23ABCC8p.Phe27SerVAR_031351
24ABCC8p.Gly70GluVAR_031352
25ABCC8p.Arg74TrpVAR_031353rs201682634
26ABCC8p.Gly111ArgVAR_031355
27ABCC8p.Ala116ProVAR_031356
28ABCC8p.Met233ArgVAR_031357
29ABCC8p.Asp310AsnVAR_031358
30ABCC8p.Cys418ArgVAR_031359rs67254669
31ABCC8p.Arg495GlnVAR_031360
32ABCC8p.Glu501LysVAR_031361
33ABCC8p.Leu503ProVAR_031362
34ABCC8p.Leu508ProVAR_031363
35ABCC8p.Pro551ArgVAR_031364
36ABCC8p.Arg620CysVAR_031365rs58241708
37ABCC8p.Phe686SerVAR_031366
38ABCC8p.Lys719ThrVAR_031367
39ABCC8p.Arg841GlyVAR_031368
40ABCC8p.Lys889ThrVAR_031369
41ABCC8p.Ser956PheVAR_031370
42ABCC8p.Thr1130ProVAR_031371
43ABCC8p.Leu1147ArgVAR_031372
44ABCC8p.Arg1214TrpVAR_031373
45ABCC8p.Asn1295LysVAR_031374
46ABCC8p.Lys1336AsnVAR_031375
47ABCC8p.Gly1342GluVAR_031376
48ABCC8p.Leu1349GlnVAR_031377
49ABCC8p.Lys1384GlnVAR_031378
50ABCC8p.Ser1386PheVAR_031379
51ABCC8p.Gly1400ArgVAR_031380
52ABCC8p.Arg1418HisVAR_031381
53ABCC8p.Leu1450ProVAR_031382
54ABCC8p.Ala1457ThrVAR_031383
55ABCC8p.Asp1471HisVAR_031384
56ABCC8p.Asp1471AsnVAR_031385
57ABCC8p.Arg1486LysVAR_031386
58ABCC8p.Arg1493GlnVAR_031387
59ABCC8p.Val1550AspVAR_031388
60ABCC8p.Leu1551ValVAR_031389

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 1.

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

Products for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperinsulinemic Hypoglycemia, Familial, 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet