MCID: HYP304
MIFTS: 22

Hyperinsulinemic Hypoglycemia, Familial, 1 malady

Genetic diseases, Endocrine diseases, Rare diseases categories

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

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48OMIM, 34MalaCards
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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:48 256450

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 1

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48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 48
hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form 50
autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency 50
autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency 50
diazoxide-resistant focal hyperinsulinism due to sur1 deficiency 50
autosomal recessive hyperinsulinism due to sur1 deficiency 50
autosomal dominant hyperinsulinism due to sur1 deficiency 50


External Ids:

OMIM48 256450
ICD10 via Orphanet27 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 1

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Symptoms for Hyperinsulinemic Hypoglycemia, Familial, 1

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48OMIM
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Symptoms by clinical synopsis from OMIM:

256450

Clinical features from OMIM:

256450

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 1

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Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

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34MalaCards
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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 1:

34
Brain

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

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Publications for Hyperinsulinemic Hypoglycemia, Familial, 1

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Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 1:

65 (show all 60)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 1:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1ABCC8NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val)single nucleotide variantPathogenicrs72559723GRCh37Chr 11, 17448671: 17448671
2ABCC8ABCC8, EX13DELdeletionPathogenic
3ABCC8ABCC8, 1-BP DUP, 512TduplicationPathogenic
4ABCC8ABCC8, IVS8, A-G, -1013single nucleotide variantPathogenic
5ABCC8NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln)single nucleotide variantPathogenicrs387906407GRCh37Chr 11, 17417157: 17417157
6ABCC8ABCC8: c.3989-9G> Asingle nucleotide variantPathogenicrs151344623GRCh37Chr 11, 17418602: 17418602
7ABCC8ABCC8, IVS, G-A, -1single nucleotide variantPathogenic
8ABCC8ABCC8, BRANCH POINT, A-G, -20single nucleotide variantPathogenic
9ABCC8NM_001287174.1(ABCC8): c.4162_4164delTTC (p.Phe1388del)deletionPathogenicrs151344624GRCh37Chr 11, 17417436: 17417438
10ABCC8ABCC8, EX35, G-Asingle nucleotide variantPathogenic
11ABCC8NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro)single nucleotide variantPathogenicrs28936370GRCh37Chr 11, 17418527: 17418527
12ABCC8NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys)single nucleotide variantPathogenicrs28938469GRCh37Chr 11, 17417206: 17417206
13ABCC8NM_001287174.1(ABCC8): c.4480C> T (p.Arg1494Trp)single nucleotide variantPathogenicrs28936371GRCh37Chr 11, 17415881: 17415881
14ABCC8NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys)single nucleotide variantPathogenicrs137852671GRCh37Chr 11, 17415842: 17415842
15ABCC8NM_001287174.1(ABCC8): c.560T> A (p.Val187Asp)single nucleotide variantPathogenicrs137852672GRCh37Chr 11, 17485004: 17485004
16ABCC8NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del)deletionPathogenicrs387906408GRCh37Chr 11, 17417439: 17417441
17ABCC8ABCC8, -64C-Gsingle nucleotide variantPathogenic

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

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Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

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Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

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

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Products for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperinsulinemic Hypoglycemia, Familial, 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet