MCID: HYP271
MIFTS: 33

Hyperinsulinemic Hypoglycemia, Familial, 4

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 4

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 4:

Name: Hyperinsulinemic Hypoglycemia, Familial, 4 57 29 13 6 40 73
Congenital Hyperinsulinism 75 73
Hhf4 57 75
Persistent Hyperinsulinemic Hypoglycemia of Infancy 75
Familial Hyperinsulinemic Hypoglycemia 4 75
Phhi 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

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


Classifications:



External Ids:

OMIM 57 609975
MedGen 42 C1864948

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 4

UniProtKB/Swiss-Prot : 75 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 hyperinsulinemic hypoglycemia, familial, 2. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 4 is HADH (Hydroxyacyl-CoA Dehydrogenase). Affiliated tissues include brain, testes and pancreas, and related phenotypes are hyperinsulinemic hypoglycemia and intellectual disability

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:

57
Neurologic Central Nervous System:
seizures, hypoglycemic
coma, hypoglycemic
mental retardation due to repeated episodes of hypoglycemia

Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia
elevated blood spot hydroxybutyryl carnitine

Endocrine Features:
hyperinsulinemic hypoglycemia


Clinical features from OMIM:

609975

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 4:

32
# Description HPO Frequency HPO Source Accession
1 hyperinsulinemic hypoglycemia 32 HP:0000825
2 intellectual disability 32 HP:0001249
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:

# Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia, Familial, 4 29 HADH

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 4

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

41
Brain, Testes, Pancreas, Pituitary, Pancreatic Islet, Spleen

Publications for Hyperinsulinemic Hypoglycemia, Familial, 4

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 4:

(show top 50) (show all 283)
# Title Authors Year
1
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
2
CORRIGENDUM FOR "Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2". ( 29538671 )
2018
3
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
4
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ( 29907798 )
2018
5
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. ( 29077992 )
2018
6
Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism. ( 29425029 )
2018
7
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2. ( 29329447 )
2018
8
Genetic characteristics of patients with congenital hyperinsulinism. ( 29750770 )
2018
9
Ketotic Hypoglycemia in Children with Previous Transient Congenital Hyperinsulinism. ( 29503277 )
2018
10
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
11
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. ( 29558846 )
2018
12
Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience. ( 29599801 )
2018
13
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. ( 29902804 )
2018
14
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. ( 29116340 )
2018
15
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. ( 29176012 )
2018
16
Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F <i> <i>ABCC8</i> </i> mutation. ( 29739729 )
2018
17
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? ( 29127764 )
2017
18
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. ( 28740482 )
2017
19
Congenital Hyperinsulinism. ( 29131920 )
2017
20
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. ( 28242437 )
2017
21
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism. ( 28787272 )
2017
22
Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism. ( 29117181 )
2017
23
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. ( 28752386 )
2017
24
Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. ( 28701683 )
2017
25
Clinical practice guidelines for congenital hyperinsulinism. ( 28804205 )
2017
26
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
27
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. ( 28605545 )
2017
28
Images from<sup>18</sup>F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis. ( 29242734 )
2017
29
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy. ( 29246172 )
2017
30
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
31
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. ( 29241206 )
2017
32
Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. ( 28597971 )
2017
33
Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. ( 28600547 )
2017
34
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. ( 28328534 )
2017
35
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report. ( 28439221 )
2017
36
Congenital Hyperinsulinism: Diagnosis and Treatment Update. ( 29280746 )
2017
37
Congenital hyperinsulinism: diagnostic and management challenges in a developing country - case report. ( 29301189 )
2017
38
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI). ( 28532504 )
2017
39
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. ( 26908106 )
2016
40
Surgery in Focal Congenital Hyperinsulinism (CHI) - The &amp;quot;Hyperinsulinism Germany International&amp;quot; Experience in 30 Children. ( 28508606 )
2016
41
Clinical and genetic characterization of congenital hyperinsulinism in Spain. ( 27188453 )
2016
42
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. ( 27173951 )
2016
43
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. ( 27174046 )
2016
44
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. ( 27682711 )
2016
45
Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism. ( 26903946 )
2016
46
A NOVEL HOMOZYGOUS MUTATION IN THE KCNJ11 GENE p.F315I OF A NEONATE WITH CONGENITAL HYPERINSULINISM AND SUCCESFUL MANAGEMENT BY SIROLIMUS. ( 27181099 )
2016
47
A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA). ( 26656609 )
2016
48
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. ( 27691052 )
2016
49
Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia. ( 27754802 )
2016
50
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2 (UCP2). ( 27967291 )
2016

Variations for Hyperinsulinemic Hypoglycemia, Familial, 4

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

75
# Symbol AA change Variation ID SNP ID
1 HADH p.Pro258Leu VAR_024081 rs137853103

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

6
# 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 NM_005327.4(HADH): c.773C> T (p.Pro258Leu) single nucleotide variant Pathogenic rs137853103 GRCh38 Chromosome 4, 108033239: 108033239
3 HADH HADH, 6-BP DEL deletion Pathogenic
4 HADH HADH, EX1DEL deletion Pathogenic
5 HADH NM_005327.4(HADH): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs375717077 GRCh37 Chromosome 4, 108948913: 108948913
6 HADH NM_005327.4(HADH): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs375717077 GRCh38 Chromosome 4, 108027757: 108027757
7 HADH NM_005327.4(HADH): c.636+471G> T single nucleotide variant Pathogenic rs786200932 GRCh38 Chromosome 4, 108024034: 108024034
8 HADH NM_005327.4(HADH): c.636+471G> T single nucleotide variant Pathogenic rs786200932 GRCh37 Chromosome 4, 108945190: 108945190

Expression for Hyperinsulinemic Hypoglycemia, Familial, 4

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

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 4

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 4

Sources for Hyperinsulinemic Hypoglycemia, Familial, 4

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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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