Hyperleucine-Isoleucinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hyperleucine-Isoleucinemia

MalaCards integrated aliases for Hyperleucine-Isoleucinemia:

Name: Hyperleucine-Isoleucinemia ⁵⁶ ²⁹ ⁷¹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

hyperleucine-isoleucinemia:
Inheritance autosomal recessive inheritance

External Ids:

OMIM ⁵⁶ 238340

MedGen ⁴¹ C0268574

SNOMED-CT via HPO ⁶⁸ 128613002 228156007 246545002 more

UMLS ⁷¹ C0268574

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Summaries for Hyperleucine-Isoleucinemia

MalaCards based summary : Hyperleucine-Isoleucinemia is related to hypervalinemia and hyperleucine-isoleucinemia and maple syrup urine disease, and has symptoms including seizures An important gene associated with Hyperleucine-Isoleucinemia is BCAT1 (Branched Chain Amino Acid Transaminase 1), and among its related pathways/superpathways are Glucose / Energy Metabolism and Carbon metabolism. Related phenotypes are intellectual disability and sensorineural hearing impairment

More information from OMIM: 238340

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Related Diseases for Hyperleucine-Isoleucinemia

Diseases related to Hyperleucine-Isoleucinemia via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hypervalinemia and hyperleucine-isoleucinemia	33.7	BCAT2 BCAT1
2	maple syrup urine disease	29.8	BCAT2 BCAT1
3	autosomal recessive disease	10.6

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Symptoms & Phenotypes for Hyperleucine-Isoleucinemia

Human phenotypes related to Hyperleucine-Isoleucinemia:

³¹ (show all 6)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	sensorineural hearing impairment ³¹	HP:0000407
3	failure to thrive ³¹	HP:0001508
4	abnormality of metabolism/homeostasis ³¹	HP:0001939
5	retinal degeneration ³¹	HP:0000546
6	seizure ³¹	HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neuro:
seizures
mental retardation

H E E N T:
retinal degeneration
sensorineural hearing loss

Growth:
failure to thrive

Lab:
elevated blood leucine, isoleucine, and proline
normal blood valine
decreased leucine and isoleucine aminotransferase
normal valine aminotransferase

Clinical features from OMIM:

238340

UMLS symptoms related to Hyperleucine-Isoleucinemia:

seizures

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Drugs & Therapeutics for Hyperleucine-Isoleucinemia

Search Clinical Trials , NIH Clinical Center for Hyperleucine-Isoleucinemia

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Genetic Tests for Hyperleucine-Isoleucinemia

Genetic tests related to Hyperleucine-Isoleucinemia:

#	Genetic test	Affiliating Genes
1	Hyperleucine-Isoleucinemia ²⁹

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Anatomical Context for Hyperleucine-Isoleucinemia

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Publications for Hyperleucine-Isoleucinemia

Articles related to Hyperleucine-Isoleucinemia:

#	Title	Authors	PMID	Year
1	Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene. ⁶¹	Wang XL...Jia JP	25653144	2015

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Genes for Hyperleucine-Isoleucinemia

Genes related to Hyperleucine-Isoleucinemia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BCAT1	Branched Chain Amino Acid Transaminase 1	Protein Coding	8.06	GeneCards inferred via : Summaries (show sections)
2	BCAT2	Branched Chain Amino Acid Transaminase 2	Protein Coding	7.37	GeneCards inferred via : Variants (show sections)

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Variations for Hyperleucine-Isoleucinemia

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Expression for Hyperleucine-Isoleucinemia

Search GEO for disease gene expression data for Hyperleucine-Isoleucinemia.

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Pathways for Hyperleucine-Isoleucinemia

Pathways related to Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glucose / Energy Metabolism ⁴	11.81	BCAT2 BCAT1
2	Carbon metabolism ³⁶ Show member pathways 2-Oxocarboxylic acid metabolism ³⁶ Biosynthesis of amino acids ³⁶ formaldehyde oxidation ¹	11.58	BCAT2 BCAT1
3	Sulfur amino acid metabolism ⁶⁵ Show member pathways Cysteine and methionine metabolism ³⁶ Degradation of cysteine and homocysteine ⁶⁵ L-serine degradation ¹ methionine salvage cycle III ¹ Methionine salvage pathway ⁶⁵ S-methyl-5-thioadenosine degradation ¹ spermidine biosynthesis ¹ Sulfide oxidation to sulfate ⁶⁵ sulfite oxidation ¹ taurine biosynthesis ¹ Trans-sulfuration pathway ¹ Valine, leucine and isoleucine biosynthesis ³⁶	11.25	BCAT2 BCAT1
4	Valine, leucine and isoleucine degradation ³⁶ Show member pathways 4-aminobutyrate degradation ¹ beta-alanine degradation ¹ Branched-chain amino acid catabolism ⁶⁵ Carnitine synthesis ⁶⁵ isoleucine degradation ¹ L-carnitine biosynthesis ¹ leucine degradation ¹ valine degradation ¹	11.03	BCAT2 BCAT1
5	Pantothenate and CoA biosynthesis ³⁶	9.9	BCAT2 BCAT1

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GO Terms for Hyperleucine-Isoleucinemia

Biological processes related to Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular amino acid biosynthetic process	GO:0008652	9.37	BCAT2 BCAT1
2	branched-chain amino acid catabolic process	GO:0009083	9.32	BCAT2 BCAT1
3	valine biosynthetic process	GO:0009099	9.26	BCAT2 BCAT1
4	leucine biosynthetic process	GO:0009098	9.16	BCAT2 BCAT1
5	branched-chain amino acid biosynthetic process	GO:0009082	8.96	BCAT2 BCAT1
6	branched-chain amino acid metabolic process	GO:0009081	8.62	BCAT2 BCAT1

Molecular functions related to Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	catalytic activity	GO:0003824	9.37	BCAT2 BCAT1
2	transaminase activity	GO:0008483	9.32	BCAT2 BCAT1
3	L-isoleucine transaminase activity	GO:0052656	9.26	BCAT2 BCAT1
4	L-valine transaminase activity	GO:0052655	9.16	BCAT2 BCAT1
5	L-leucine transaminase activity	GO:0052654	8.96	BCAT2 BCAT1
6	branched-chain-amino-acid transaminase activity	GO:0004084	8.62	BCAT2 BCAT1

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⁷⁴ Wikipedia