Aliases & Classifications for Hyperleucine-Isoleucinemia

MalaCards integrated aliases for Hyperleucine-Isoleucinemia:

Name: Hyperleucine-Isoleucinemia 57 29 71

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
hyperleucine-isoleucinemia:
Inheritance autosomal recessive inheritance


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 failure to thrive

More information from OMIM: 238340

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 32.1 BCAT2 BCAT1
2 maple syrup urine disease 29.5 BCAT2 BCAT1
3 autosomal recessive disease 10.2

Symptoms & Phenotypes for Hyperleucine-Isoleucinemia

Human phenotypes related to Hyperleucine-Isoleucinemia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 sensorineural hearing impairment 31 HP:0000407
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Hyperleucine-Isoleucinemia:


seizures

Drugs & Therapeutics for Hyperleucine-Isoleucinemia

Search Clinical Trials , NIH Clinical Center for Hyperleucine-Isoleucinemia

Genetic Tests for Hyperleucine-Isoleucinemia

Genetic tests related to Hyperleucine-Isoleucinemia:

# Genetic test Affiliating Genes
1 Hyperleucine-Isoleucinemia 29

Anatomical Context for Hyperleucine-Isoleucinemia

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
25653144 2015

Variations for Hyperleucine-Isoleucinemia

Expression for Hyperleucine-Isoleucinemia

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

Pathways for Hyperleucine-Isoleucinemia

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

Sources for Hyperleucine-Isoleucinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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