MCID: HYP782
MIFTS: 21

Hypoglycemia, Leucine-Induced

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypoglycemia, Leucine-Induced

MalaCards integrated aliases for Hypoglycemia, Leucine-Induced:

Name: Hypoglycemia, Leucine-Induced 57 73
Leucine-Induced Hypoglycemia 75 29 6 40
Leucine-Sensitive Hypoglycemia of Infancy 57 53 75
Hypoglycemia of Infancy, Leucine-Sensitive 57 13
Lih 57 75
Familial Infantile Hypoglycemia Precipitated by Leucine 53
Hypoglycemia Leucine Induced 53
Hypoglycemia Leucine-Induced 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypoglycemia, leucine-induced:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypoglycemia, Leucine-Induced

UniProtKB/Swiss-Prot : 75 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, Leucine-Induced, also known as leucine-induced hypoglycemia, is related to hypoglycemia, and has symptoms including muscle spasticity An important gene associated with Hypoglycemia, Leucine-Induced is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Related phenotypes are intellectual disability and ataxia

Description from OMIM: 240800

Related Diseases for Hypoglycemia, Leucine-Induced

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

# Related Disease Score Top Affiliating Genes
1 hypoglycemia 10.0

Symptoms & Phenotypes for Hypoglycemia, Leucine-Induced

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
irritability
coma
drowsiness
mental retardation
more
Abdomen Pancreas:
islet cell hyperplasia

Head And Neck Eyes:
strabismus, alternating (in some patients)

Laboratory Abnormalities:
intermittent severe hypoglycemia (in some patients)

Endocrine Features:
hyperinsulinemic hypoglycemia

Growth Weight:
high birth weight (in some patients)

Metabolic Features:
hypoglycemia, leucine-induced
hypoglycemia, oral protein-induced


Clinical features from OMIM:

240800

Human phenotypes related to Hypoglycemia, Leucine-Induced:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
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, Leucine-Induced:


muscle spasticity

Drugs & Therapeutics for Hypoglycemia, Leucine-Induced

Search Clinical Trials , NIH Clinical Center for Hypoglycemia, Leucine-Induced

Genetic Tests for Hypoglycemia, Leucine-Induced

Genetic tests related to Hypoglycemia, Leucine-Induced:

# Genetic test Affiliating Genes
1 Leucine-Induced Hypoglycemia 29 ABCC8

Anatomical Context for Hypoglycemia, Leucine-Induced

Publications for Hypoglycemia, Leucine-Induced

Articles related to Hypoglycemia, Leucine-Induced:

# Title Authors Year
1
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. ( 15356046 )
2004

Variations for Hypoglycemia, Leucine-Induced

UniProtKB/Swiss-Prot genetic disease variations for Hypoglycemia, Leucine-Induced:

75
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Arg1352His VAR_029784 rs28936370

ClinVar genetic disease variations for Hypoglycemia, Leucine-Induced:

6
# 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
2 ABCC8 NM_001287174.1(ABCC8): c.4058G> A (p.Arg1353His) single nucleotide variant Pathogenic rs28936370 GRCh38 Chromosome 11, 17396980: 17396980

Expression for Hypoglycemia, Leucine-Induced

Search GEO for disease gene expression data for Hypoglycemia, Leucine-Induced.

Pathways for Hypoglycemia, Leucine-Induced

GO Terms for Hypoglycemia, Leucine-Induced

Sources for Hypoglycemia, Leucine-Induced

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
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