HIHGHH
MCID: HYP524
MIFTS: 24

Hypoinsulinemic Hypoglycemia with Hemihypertrophy (HIHGHH)

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

Aliases & Classifications for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

MalaCards integrated aliases for Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

Name: Hypoinsulinemic Hypoglycemia with Hemihypertrophy 57 12 72 36 13 70
Hihghh 57 12 72
Hypoinsulinemic Hypoglycemia and Body Hemihypertrophy 12 58
Hypoinsulinemic Hypoglycemia and Hemihypertrophy 6

Characteristics:

Orphanet epidemiological data:

58
hypoinsulinemic hypoglycemia and body hemihypertrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hypoinsulinemic hypoglycemia with hemihypertrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0112263
OMIM® 57 240900
KEGG 36 H01909
MeSH 44 D007003
Orphanet 58 ORPHA293964
MedGen 41 C3278384
UMLS 70 C3278384

Summaries for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

KEGG : 36 Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedemann syndrome [DS:H00713] and persistent hypoketotic, hypofattyacidemic hypoinsulinaemic hypoglycemia with no detectable incompletely processed high molecular weight IGF-II precursor proteins or insulin autoantibodies. There is not evidence of increased glucose clearance from the circulation. Patients have been found to carry a de novo mutation in the serine/threonine kinase AKT2.

MalaCards based summary : Hypoinsulinemic Hypoglycemia with Hemihypertrophy, is also known as hihghh. An important gene associated with Hypoinsulinemic Hypoglycemia with Hemihypertrophy is AKT2 (AKT Serine/Threonine Kinase 2), and among its related pathways/superpathways are mTOR signaling pathway and PI3K-Akt signaling pathway. Related phenotypes are hemihypertrophy and gynecomastia

Disease Ontology : 12 An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has material basis in heterozygous activating mutation in AKT2 on chromosome 19q13.2.

UniProtKB/Swiss-Prot : 72 Hypoinsulinemic hypoglycemia with hemihypertrophy: A disorder characterized by hypoglycemia, low insulin levels, low serum levels of ketone bodies and branched-chain amino acids, left- sided hemihypertrophy, neonatal macrosomia, reduced consciousness and hypoglycemic seizures.

More information from OMIM: 240900

Related Diseases for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Symptoms & Phenotypes for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Human phenotypes related to Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemihypertrophy 58 31 obligate (100%) Obligate (100%) HP:0001528
2 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
3 large for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001520
4 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
5 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
6 nonketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001958
7 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
8 increased hepatic glycogen content 58 31 hallmark (90%) Very frequent (99-80%) HP:0006568
9 hypoglycemic coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001325
10 hypoglycemic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002173
11 enlarged tonsils 58 31 hallmark (90%) Very frequent (99-80%) HP:0030812
12 abnormal circulating insulin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040215
13 autoimmunity 58 Excluded (0%)
14 increased circulating free fatty acid level 58 Excluded (0%)
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Chest Breasts:
gynecomastia

Neurologic Central Nervous System:
seizures, hypoglycemic
reduced consciousness, hypoglycemia-related

Head And Neck Face:
left-sided hemihypertrophy of face

Laboratory Abnormalities:
low serum levels of ketone bodies
low serum levels of branched-chain amino acids
no elevation of free fatty acids

Abdomen External Features:
truncal obesity

Growth Other:
macrosomia, neonatal
hemihypertrophy, left-sided

Metabolic Features:
hypoinsulinemic hypoglycemia

Clinical features from OMIM®:

240900 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Search Clinical Trials , NIH Clinical Center for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Genetic Tests for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Anatomical Context for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Publications for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Articles related to Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

# Title Authors PMID Year
1
An activating mutation of AKT2 and human hypoglycemia. 57 6
21979934 2011
2
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. 57
14764948 2004
3
Familial neonatal hypoglycemia. A syndrome resembling foetopathia diabetica. 57
13952653 1963

Variations for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

ClinVar genetic disease variations for Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AKT2 NM_001626.6(AKT2):c.49G>A (p.Glu17Lys) SNV Pathogenic 29804 rs387906659 GRCh37: 19:40762959-40762959
GRCh38: 19:40257052-40257052
2 AKT2 NM_001626.6(AKT2):c.136G>A (p.Asp46Asn) SNV Uncertain significance 853964 GRCh37: 19:40762872-40762872
GRCh38: 19:40256965-40256965
3 AKT2 NM_001626.6(AKT2):c.757C>T (p.Arg253Trp) SNV Uncertain significance 838472 GRCh37: 19:40743950-40743950
GRCh38: 19:40238043-40238043
4 AKT2 NM_001626.6(AKT2):c.550C>T (p.Arg184Trp) SNV Uncertain significance 959923 GRCh37: 19:40747868-40747868
GRCh38: 19:40241961-40241961
5 AKT2 NM_001626.6(AKT2):c.1286A>G (p.Gln429Arg) SNV Uncertain significance 1017881 GRCh37: 19:40741032-40741032
GRCh38: 19:40235125-40235125
6 AKT2 NM_001626.6(AKT2):c.208C>G (p.Pro70Ala) SNV Uncertain significance 1018900 GRCh37: 19:40761144-40761144
GRCh38: 19:40255237-40255237
7 AKT2 NM_001626.6(AKT2):c.1363C>T (p.Arg455Cys) SNV Uncertain significance 853867 GRCh37: 19:40740955-40740955
GRCh38: 19:40235048-40235048
8 AKT2 NM_001626.6(AKT2):c.347G>C (p.Gly116Ala) SNV Uncertain significance 969146 GRCh37: 19:40748535-40748535
GRCh38: 19:40242628-40242628
9 AKT2 NM_001626.6(AKT2):c.1367-7C>T SNV Likely benign 707136 rs191069336 GRCh37: 19:40739865-40739865
GRCh38: 19:40233958-40233958
10 AKT2 NM_001626.6(AKT2):c.960+3G>A SNV Likely benign 434115 rs56165898 GRCh37: 19:40742161-40742161
GRCh38: 19:40236254-40236254
11 AKT2 NM_001626.6(AKT2):c.282C>T (p.Asp94=) SNV Likely benign 466266 rs139125633 GRCh37: 19:40761070-40761070
GRCh38: 19:40255163-40255163
12 AKT2 NM_001626.6(AKT2):c.711G>C (p.Leu237=) SNV Likely benign 715159 rs776435289 GRCh37: 19:40743996-40743996
GRCh38: 19:40238089-40238089
13 AKT2 NM_001626.6(AKT2):c.699C>T (p.Asn233=) SNV Likely benign 772158 rs765477884 GRCh37: 19:40744821-40744821
GRCh38: 19:40238914-40238914
14 AKT2 NM_001626.6(AKT2):c.442-8C>T SNV Likely benign 434117 rs201884933 GRCh37: 19:40747984-40747984
GRCh38: 19:40242077-40242077
15 AKT2 NM_001626.6(AKT2):c.212A>G (p.Asn71Ser) SNV Likely benign 783189 rs200272953 GRCh37: 19:40761140-40761140
GRCh38: 19:40255233-40255233
16 AKT2 NM_001626.6(AKT2):c.945G>A (p.Glu315=) SNV Benign 434116 rs150000674 GRCh37: 19:40742179-40742179
GRCh38: 19:40236272-40236272
17 AKT2 NM_001626.6(AKT2):c.573+9C>T SNV Benign 210115 rs3730258 GRCh37: 19:40747836-40747836
GRCh38: 19:40241929-40241929
18 AKT2 NM_001626.6(AKT2):c.1110G>T (p.Pro370=) SNV Benign 466265 rs41309435 GRCh37: 19:40741862-40741862
GRCh38: 19:40235955-40235955
19 AKT2 NM_001626.6(AKT2):c.93C>T (p.Ser31=) SNV Benign 434118 rs35588791 GRCh37: 19:40762915-40762915
GRCh38: 19:40257008-40257008
20 AKT2 NM_001626.6(AKT2):c.666C>T (p.His222=) SNV Benign 707555 rs199761368 GRCh37: 19:40744854-40744854
GRCh38: 19:40238947-40238947

UniProtKB/Swiss-Prot genetic disease variations for Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

72
# Symbol AA change Variation ID SNP ID
1 AKT2 p.Glu17Lys VAR_067309 rs387906659

Expression for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Search GEO for disease gene expression data for Hypoinsulinemic Hypoglycemia with Hemihypertrophy.

Pathways for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Pathways related to Hypoinsulinemic Hypoglycemia with Hemihypertrophy according to KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150
2 PI3K-Akt signaling pathway hsa04151

GO Terms for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Sources for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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