LIH
MCID: HYP782
MIFTS: 26

Hypoglycemia, Leucine-Induced (LIH)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypoglycemia, Leucine-Induced

MalaCards integrated aliases for Hypoglycemia, Leucine-Induced:

Name: Hypoglycemia, Leucine-Induced 58 74
Leucine-Induced Hypoglycemia 76 30 6 41 17
Leucine-Sensitive Hypoglycemia of Infancy 58 54 76
Hypoglycemia of Infancy, Leucine-Sensitive 58 13
Lih 58 76
Familial Infantile Hypoglycemia Precipitated by Leucine 54
Hypoglycemia Leucine Induced 54
Hypoglycemia Leucine-Induced 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hypoglycemia, leucine-induced:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypoglycemia, Leucine-Induced

UniProtKB/Swiss-Prot : 76 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 retinoblastoma and hypoglycemia, and has symptoms including muscle spasticity An important gene associated with Hypoglycemia, Leucine-Induced is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Affiliated tissues include pancreatic islet, and related phenotypes are intellectual disability and seizures

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 retinoblastoma 10.3
2 hypoglycemia 10.3
3 insulinoma 10.0
4 adenoma 10.0

Symptoms & Phenotypes for Hypoglycemia, Leucine-Induced

Human phenotypes related to Hypoglycemia, Leucine-Induced:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 spasticity 33 HP:0001257
5 hyperreflexia 33 HP:0001347
6 hypoglycemia 33 HP:0001943
7 irritability 33 HP:0000737
8 strabismus 33 HP:0000486
9 coma 33 HP:0001259
10 hyperinsulinemic hypoglycemia 33 HP:0000825
11 drowsiness 33 HP:0002329

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ABCC8

Anatomical Context for Hypoglycemia, Leucine-Induced

MalaCards organs/tissues related to Hypoglycemia, Leucine-Induced:

42
Pancreatic Islet

Publications for Hypoglycemia, Leucine-Induced

Articles related to Hypoglycemia, Leucine-Induced:

(show all 14)
# Title Authors Year
1
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. ( 15356046 )
2004
2
Leucine-induced hypoglycemia in a family: effect of diphenylhydantoin, oxprenolol, and diazoxide. ( 6510895 )
1984
3
Leucine-induced hypoglycemia. ( 5533016 )
1970
4
Leucine-induced hypoglycemia. ( 6024228 )
1967
5
LEUCINE-INDUCED HYPOGLYCEMIA. ( 14284995 )
1965
6
EXPERIMENTAL LEUCINE-INDUCED HYPOGLYCEMIA IN MICE. ( 14289490 )
1965
7
LEUCINE-INDUCED HYPOGLYCEMIA. III. THE BLOOD GLUCOSE DEPRESSANT ACTION OF LEUCINE IN NORMAL INDIVIDUALS. ( 14043072 )
1963
8
FUNCTIONING PANCREATIC ISLET CELL ADENOMA. WITH LEUCINE-INDUCED HYPOGLYCEMIA. ( 14051377 )
1963
9
STUDIES ON THE MECHANISM OF LEUCINE-INDUCED HYPOGLYCEMIA. ( 14065457 )
1963
10
Leucine-induced hypoglycemia. ( 13951710 )
1962
11
The use of insulin in the production of L-leucine-induced hypoglycemia in normal dogs. ( 14490816 )
1962
12
Effect of sodium glutamate on leucine-induced hypoglycemia: clinical and electroencephalographic study. ( 13900074 )
1961
13
Leucine-induced hypoglycemia. I. Clinical observations and diagnostic considerations. ( 13764666 )
1960
14
Leucine-induced hypoglycemia. II. Studies concerning other amino acids and leucine metabolites. ( 13764667 )
1960

Variations for Hypoglycemia, Leucine-Induced

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

76
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Arg1352His VAR_029784 rs28936370

ClinVar genetic disease variations for Hypoglycemia, Leucine-Induced:

6 (show all 18)
# 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
3 ABCC8 NM_000352.4(ABCC8): c.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh37 Chromosome 11, 17485156: 17485156
4 ABCC8 NM_000352.4(ABCC8): c.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh38 Chromosome 11, 17463609: 17463609
5 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
6 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh38 Chromosome 11, 17395611: 17395611
7 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
8 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh37 Chromosome 11, 17434263: 17434263
9 ABCC8 NM_000352.4(ABCC8): c.1252T> C (p.Cys418Arg) single nucleotide variant Uncertain significance rs67254669 GRCh38 Chromosome 11, 17448596: 17448596
10 ABCC8 NM_000352.4(ABCC8): c.1252T> C (p.Cys418Arg) single nucleotide variant Uncertain significance rs67254669 GRCh37 Chromosome 11, 17470143: 17470143
11 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic/Likely pathogenic rs72559715 GRCh38 Chromosome 11, 17394379: 17394379
12 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic/Likely pathogenic rs72559715 GRCh37 Chromosome 11, 17415926: 17415926
13 ABCC8 NM_000352.4(ABCC8): c.2176G> A (p.Ala726Thr) single nucleotide variant Uncertain significance rs138687850 GRCh38 Chromosome 11, 17427095: 17427095
14 ABCC8 NM_000352.4(ABCC8): c.2176G> A (p.Ala726Thr) single nucleotide variant Uncertain significance rs138687850 GRCh37 Chromosome 11, 17448642: 17448642
15 ABCC8 NM_000352.4(ABCC8): c.221G> A (p.Arg74Gln) single nucleotide variant Pathogenic rs72559734 GRCh37 Chromosome 11, 17496502: 17496502
16 ABCC8 NM_000352.4(ABCC8): c.221G> A (p.Arg74Gln) single nucleotide variant Pathogenic rs72559734 GRCh38 Chromosome 11, 17474955: 17474955
17 ABCC8 NM_000352.4(ABCC8): c.290+2T> C single nucleotide variant Likely pathogenic rs1554948310 GRCh37 Chromosome 11, 17496431: 17496431
18 ABCC8 NM_000352.4(ABCC8): c.290+2T> C single nucleotide variant Likely pathogenic rs1554948310 GRCh38 Chromosome 11, 17474884: 17474884

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

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