LIH
MCID: HYP619
MIFTS: 19

Hypoglycemia of Infancy, Leucine-Sensitive (LIH) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypoglycemia of Infancy, Leucine-Sensitive

Aliases & Descriptions for Hypoglycemia of Infancy, Leucine-Sensitive:

Name: Hypoglycemia of Infancy, Leucine-Sensitive 54 13
Leucine-Sensitive Hypoglycemia of Infancy 50 66
Leucine-Induced Hypoglycemia 66 29
Familial Infantile Hypoglycemia Precipitated by Leucine 50
Hypoglycemia, Leucine-Induced 69
Hypoglycemia Leucine Induced 50
Hypoglycemia Leucine-Induced 50
Lih 66

Characteristics:

HPO:

32
hypoglycemia of infancy, leucine-sensitive:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 240800
MedGen 40 C0271714

Summaries for Hypoglycemia of Infancy, Leucine-Sensitive

UniProtKB/Swiss-Prot : 66 Leucine-induced hypoglycemia: Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.

MalaCards based summary : Hypoglycemia of Infancy, Leucine-Sensitive, also known as leucine-sensitive hypoglycemia of infancy, is related to hypoglycemia, and has symptoms including ataxia, intellectual disability and spasticity. An important gene associated with Hypoglycemia of Infancy, Leucine-Sensitive is ABCC8 (ATP Binding Cassette Subfamily C Member 8).

Description from OMIM: 240800

Related Diseases for Hypoglycemia of Infancy, Leucine-Sensitive

Diseases related to Hypoglycemia of Infancy, Leucine-Sensitive via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hypoglycemia 9.9

Symptoms & Phenotypes for Hypoglycemia of Infancy, Leucine-Sensitive

Symptoms by clinical synopsis from OMIM:

240800

Clinical features from OMIM:

240800

Human phenotypes related to Hypoglycemia of Infancy, Leucine-Sensitive:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 intellectual disability 32 HP:0001249
3 spasticity 32 HP:0001257
4 hyperreflexia 32 HP:0001347
5 hypoglycemia 32 HP:0001943
6 irritability 32 HP:0000737
7 strabismus 32 HP:0000486
8 coma 32 HP:0001259
9 hyperinsulinemic hypoglycemia 32 HP:0000825
10 drowsiness 32 HP:0002329

UMLS symptoms related to Hypoglycemia of Infancy, Leucine-Sensitive:


muscle spasticity

Drugs & Therapeutics for Hypoglycemia of Infancy, Leucine-Sensitive

Search Clinical Trials , NIH Clinical Center for Hypoglycemia of Infancy, Leucine-Sensitive

Genetic Tests for Hypoglycemia of Infancy, Leucine-Sensitive

Genetic tests related to Hypoglycemia of Infancy, Leucine-Sensitive:

id Genetic test Affiliating Genes
1 Leucine-Induced Hypoglycemia 29

Anatomical Context for Hypoglycemia of Infancy, Leucine-Sensitive

Publications for Hypoglycemia of Infancy, Leucine-Sensitive

Variations for Hypoglycemia of Infancy, Leucine-Sensitive

UniProtKB/Swiss-Prot genetic disease variations for Hypoglycemia of Infancy, Leucine-Sensitive:

66
id Symbol AA change Variation ID SNP ID
1 ABCC8 p.Arg1352His VAR_029784 rs28936370

ClinVar genetic disease variations for Hypoglycemia of Infancy, Leucine-Sensitive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_001287174.1(ABCC8): c.4058G> A (p.Arg1353His) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527

Expression for Hypoglycemia of Infancy, Leucine-Sensitive

Search GEO for disease gene expression data for Hypoglycemia of Infancy, Leucine-Sensitive.

Pathways for Hypoglycemia of Infancy, Leucine-Sensitive

GO Terms for Hypoglycemia of Infancy, Leucine-Sensitive

Sources for Hypoglycemia of Infancy, Leucine-Sensitive

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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