MCID: HYP326
MIFTS: 35

Hyperinsulinemic Hypoglycemia, Familial, 5

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 5

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 5:

Name: Hyperinsulinemic Hypoglycemia, Familial, 5 57 13 73
Hyperinsulinemic Hypoglycemia Familial 5 29 6 40
Congenital Hyperinsulinism 75 73
Hhf5 57 75
Hyperinsulinemic Hypoglycemia Due to Insulin Receptor Deficiency 59
Hyperinsulinemic Hypoglycemia Due to Insr Deficiency 59
Persistent Hyperinsulinemic Hypoglycemia of Infancy 75
Familial Hyperinsulinemic Hypoglycemia 5 75
Hyperinsulinism Due to Insr Deficiency 59
Phhi 75

Characteristics:

Orphanet epidemiological data:

59
hyperinsulinism due to insr deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

32
hyperinsulinemic hypoglycemia, familial, 5:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 5

UniProtKB/Swiss-Prot : 75 Familial hyperinsulinemic hypoglycemia 5: Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 5, also known as hyperinsulinemic hypoglycemia familial 5, is related to hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinemic hypoglycemia, familial, 2. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 5 is INSR (Insulin Receptor). Affiliated tissues include testes, pancreas and pituitary, and related phenotypes are hyperinsulinemic hypoglycemia and recurrent hypoglycemia

Description from OMIM: 609968

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 5

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 5:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 5

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 5

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hyperinsulinemic hypoglycemia

Laboratory Abnormalities:
hypoglycemia, postprandial
hyperinsulinemia, fasting
elevated serum insulin-to-c-peptide ratio

Neurologic Central Nervous System:
seizures, hypoglycemic
loss of consciousness due to hypoglycemia


Clinical features from OMIM:

609968

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 5:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperinsulinemic hypoglycemia 59 32 obligate (100%) Obligate (100%) HP:0000825
2 recurrent hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001988
3 fasting hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008283
4 abnormal c-peptide level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030794
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
7 insulin resistance 59 32 occasional (7.5%) Occasional (29-5%) HP:0000855
8 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
9 hypoglycemia 59 Very frequent (99-80%)
10 hypoglycemic coma 32 HP:0001325
11 hypoglycemic seizures 32 HP:0002173

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 5

Search Clinical Trials , NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 5

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 5

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 5:

# Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 5 29 INSR

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 5

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 5:

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

Publications for Hyperinsulinemic Hypoglycemia, Familial, 5

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 5:

(show top 50) (show all 283)
# Title Authors Year
1
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
2
CORRIGENDUM FOR &amp;quot;Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2&amp;quot;. ( 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, 5

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 5:

75
# Symbol AA change Variation ID SNP ID
1 INSR p.Arg1201Gln VAR_015929 rs121913156

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INSR NM_000208.3(INSR): c.3602G> A (p.Arg1201Gln) single nucleotide variant Pathogenic rs121913156 GRCh37 Chromosome 19, 7120688: 7120688
2 INSR NM_000208.3(INSR): c.3602G> A (p.Arg1201Gln) single nucleotide variant Pathogenic rs121913156 GRCh38 Chromosome 19, 7120677: 7120677
3 INSR NM_000208.3(INSR): c.1610+2T> C single nucleotide variant Pathogenic rs797045624 GRCh38 Chromosome 19, 7167966: 7167966
4 INSR NM_000208.3(INSR): c.1610+2T> C single nucleotide variant Pathogenic rs797045624 GRCh37 Chromosome 19, 7167977: 7167977

Expression for Hyperinsulinemic Hypoglycemia, Familial, 5

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 5.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 5

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 5

Sources for Hyperinsulinemic Hypoglycemia, Familial, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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
Content
Loading form....