MCID: HYP524
MIFTS: 19

Hypoinsulinemic Hypoglycemia with Hemihypertrophy

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

Aliases & Classifications for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

MalaCards integrated aliases for Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

Name: Hypoinsulinemic Hypoglycemia with Hemihypertrophy 57 75 37 13 73
Hihghh 57 75
Hypoinsulinemic Hypoglycemia and Body Hemihypertrophy 59
Hypoinsulinemic Hypoglycemia and Hemihypertrophy 6

Characteristics:

Orphanet epidemiological data:

59
hypoinsulinemic hypoglycemia and body hemihypertrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypoinsulinemic hypoglycemia with hemihypertrophy:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

UniProtKB/Swiss-Prot : 75 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.

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. Affiliated tissues include tonsil, and related phenotypes are hemihypertrophy and gynecomastia

Description from OMIM: 240900

Related Diseases for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Symptoms & Phenotypes for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemihypertrophy 59 32 obligate (100%) Obligate (100%) HP:0001528
2 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
3 hypoglycemic coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001325
4 large for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001520
5 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
6 nonketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001958
7 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
8 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
9 hypoglycemic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002173
10 increased hepatic glycogen content 59 32 hallmark (90%) Very frequent (99-80%) HP:0006568
11 enlarged tonsils 59 32 hallmark (90%) Very frequent (99-80%) HP:0030812
12 abnormal circulating insulin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0040215
13 autoimmunity 59 Excluded (0%)
14 increased circulating free fatty acid level 59 Excluded (0%)
15 seizures 32 HP:0001250

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

MalaCards organs/tissues related to Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

41
Tonsil

Publications for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

Variations for Hypoinsulinemic Hypoglycemia with Hemihypertrophy

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

75
# Symbol AA change Variation ID SNP ID
1 AKT2 p.Glu17Lys VAR_067309 rs387906659

ClinVar genetic disease variations for Hypoinsulinemic Hypoglycemia with Hemihypertrophy:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKT2 NM_001626.5(AKT2): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic rs387906659 GRCh37 Chromosome 19, 40762959: 40762959
2 AKT2 NM_001626.5(AKT2): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic rs387906659 GRCh38 Chromosome 19, 40257052: 40257052
3 AKT2 NM_001626.5(AKT2): c.573+9C> T single nucleotide variant Benign/Likely benign rs3730258 GRCh37 Chromosome 19, 40747836: 40747836
4 AKT2 NM_001626.5(AKT2): c.573+9C> T single nucleotide variant Benign/Likely benign rs3730258 GRCh38 Chromosome 19, 40241929: 40241929
5 AKT2 NM_001626.5(AKT2): c.945G> A (p.Glu315=) single nucleotide variant Benign/Likely benign rs150000674 GRCh37 Chromosome 19, 40742179: 40742179
6 AKT2 NM_001626.5(AKT2): c.945G> A (p.Glu315=) single nucleotide variant Benign/Likely benign rs150000674 GRCh38 Chromosome 19, 40236272: 40236272
7 AKT2 NM_001626.5(AKT2): c.93C> T (p.Ser31=) single nucleotide variant Benign/Likely benign rs35588791 GRCh38 Chromosome 19, 40257008: 40257008
8 AKT2 NM_001626.5(AKT2): c.93C> T (p.Ser31=) single nucleotide variant Benign/Likely benign rs35588791 GRCh37 Chromosome 19, 40762915: 40762915
9 AKT2 NM_001626.5(AKT2): c.1110G> T (p.Pro370=) single nucleotide variant Benign rs41309435 GRCh37 Chromosome 19, 40741862: 40741862
10 AKT2 NM_001626.5(AKT2): c.1110G> T (p.Pro370=) single nucleotide variant Benign rs41309435 GRCh38 Chromosome 19, 40235955: 40235955
11 AKT2 NM_001626.5(AKT2): c.282C> T (p.Asp94=) single nucleotide variant Likely benign rs139125633 GRCh37 Chromosome 19, 40761070: 40761070
12 AKT2 NM_001626.5(AKT2): c.282C> T (p.Asp94=) single nucleotide variant Likely benign rs139125633 GRCh38 Chromosome 19, 40255163: 40255163

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:

37
# 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 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....