MCID: HYP271
MIFTS: 30

Hyperinsulinemic Hypoglycemia, Familial, 4

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 4

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 4:

Name: Hyperinsulinemic Hypoglycemia, Familial, 4 54 29 13 69
Congenital Hyperinsulinism 71 69
Persistent Hyperinsulinemic Hypoglycemia of Infancy 71
Familial Hyperinsulinemic Hypoglycemia 4 71
Phhi 71
Hhf4 71

Characteristics:

OMIM:

54
Miscellaneous:
genetic heterogeneity (see hhf1 )

Inheritance:
autosomal recessive


HPO:

32
hyperinsulinemic hypoglycemia, familial, 4:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 609975
MedGen 40 C1864948

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 4

UniProtKB/Swiss-Prot : 71 Familial hyperinsulinemic hypoglycemia 4: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 4, also known as congenital hyperinsulinism, is related to hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinism-hyperammonemia syndrome, and has symptoms including intellectual disability, hyperinsulinemic hypoglycemia and hypoglycemic coma. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 4 is HADH (Hydroxyacyl-CoA Dehydrogenase), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include brain.

Description from OMIM: 609975

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 4

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 4:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 4

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 4

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
elevated blood spot hydroxybutyryl carnitine
hyperinsulinemia
hypoglycemia

Neurologic- Central Nervous System:
mental retardation due to repeated episodes of hypoglycemia
coma, hypoglycemic
seizures, hypoglycemic

Endocrine Features:
hyperinsulinemic hypoglycemia


Clinical features from OMIM:

609975

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 4:

32
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hyperinsulinemic hypoglycemia 32 HP:0000825
3 hypoglycemic coma 32 HP:0001325
4 hypoglycemic seizures 32 HP:0002173

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 4

Search Clinical Trials , NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 4

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 4

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 4:

id Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia, Familial, 4 29

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 4

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 4:

39
Brain

Publications for Hyperinsulinemic Hypoglycemia, Familial, 4

Variations for Hyperinsulinemic Hypoglycemia, Familial, 4

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 4:

71
id Symbol AA change Variation ID SNP ID
1 HADH p.Pro258Leu VAR_024081 rs137853103

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 4:

6 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1 HADH NM_005327.4(HADH): c.773C> T (p.Pro258Leu) single nucleotide variant Pathogenic rs137853103 GRCh37 Chromosome 4, 108954395: 108954395
2 HADH HADH, 6-BP DEL deletion Pathogenic
3 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
4 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
5 ABCC8 ABCC8, IVS, G-A, -1 single nucleotide variant Pathogenic
6 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
7 ABCC8 ABCC8, EX35, G-A single nucleotide variant Pathogenic
8 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
9 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
10 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
11 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
12 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
13 ABCC8 NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417439: 17417441
14 ABCC8 ABCC8, -64C-G single nucleotide variant Pathogenic
15 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
16 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
17 ABCC8 ABCC8, EX13DEL deletion Pathogenic
18 ABCC8 ABCC8, 1-BP DUP, 512T duplication Pathogenic
19 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
20 HADH NM_005327.4(HADH): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs375717077 GRCh37 Chromosome 4, 108948913: 108948913
21 HADH HADH, EX1DEL deletion Pathogenic
22 HADH NM_005327.4(HADH): c.636+471G> T single nucleotide variant Pathogenic rs786200932 GRCh38 Chromosome 4, 108024034: 108024034
23 ABCC8 NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs) deletion Pathogenic rs587783169 GRCh37 Chromosome 11, 17426107: 17426107
24 ABCC8 NM_000352.4(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic/Likely pathogenic rs541269678 GRCh38 Chromosome 11, 17407417: 17407417
25 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Pathogenic/Likely pathogenic rs570388861 GRCh37 Chromosome 11, 17429962: 17429962
26 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
27 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
28 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
29 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
30 ABCC8 NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 GRCh38 Chromosome 11, 17463454: 17463454
31 ABCC8 NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 GRCh37 Chromosome 11, 17491729: 17491729
32 ABCC8 NM_000352.4(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 GRCh37 Chromosome 11, 17419891: 17419891
33 ABCC8 NM_000352.4(ABCC8): c.1879delC (p.His627Metfs) deletion Pathogenic/Likely pathogenic rs1057516860 GRCh38 Chromosome 11, 17428609: 17428609
34 ABCC8 NM_000352.4(ABCC8): c.1630+1G> T single nucleotide variant Pathogenic rs773306994 GRCh38 Chromosome 11, 17442719: 17442719
35 ABCC8 NM_000352.4(ABCC8): c.584dupA (p.Tyr195Terfs) duplication Pathogenic rs1057517199 GRCh38 Chromosome 11, 17461821: 17461821
36 ABCC8 NM_000352.4(ABCC8): c.4450G> A (p.Gly1484Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17415908: 17415908
37 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic rs72559715 GRCh38 Chromosome 11, 17394379: 17394379
38 ABCC8 NM_000352.4(ABCC8): c.4376T> G (p.Leu1459Arg) single nucleotide variant Pathogenic rs971604271 GRCh37 Chromosome 11, 17416754: 17416754
39 ABCC8 NM_000352.4(ABCC8): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic rs769518471 GRCh38 Chromosome 11, 17407058: 17407058
40 ABCC8 NM_000352.4(ABCC8): c.2295_2307delGAGAGGCCCCGTGinsAA (p.Arg766Serfs) indel Pathogenic GRCh38 Chromosome 11, 17414595: 17414607
41 ABCC8 NM_000352.4(ABCC8): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs139328569 GRCh38 Chromosome 11, 17430839: 17430839
42 ABCC8 NM_000352.4(ABCC8): c.1752delT (p.His584Glnfs) deletion Pathogenic GRCh37 Chromosome 11, 17452426: 17452426
43 ABCC8 NM_000352.4(ABCC8): c.1254_1284dup (p.Met429Terfs) duplication Pathogenic GRCh38 Chromosome 11, 17448564: 17448594

Expression for Hyperinsulinemic Hypoglycemia, Familial, 4

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 4.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 4

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 4 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.27 ABCC8 HADH

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 4

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.16 ABCC8 HADH
2 response to insulin GO:0032868 8.96 ABCC8 HADH
3 negative regulation of insulin secretion GO:0046676 8.62 ABCC8 HADH

Sources for Hyperinsulinemic Hypoglycemia, Familial, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....