MCID: HYP240
MIFTS: 11

Hyperleucine-Isoleucinemia

Aliases & Classifications for Hyperleucine-Isoleucinemia

MalaCards integrated aliases for Hyperleucine-Isoleucinemia:

Name: Hyperleucine-Isoleucinemia 58 30 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hyperleucine-isoleucinemia:
Inheritance autosomal recessive inheritance


Summaries for Hyperleucine-Isoleucinemia

MalaCards based summary : Hyperleucine-Isoleucinemia and has symptoms including seizures An important gene associated with Hyperleucine-Isoleucinemia is BCAT1 (Branched Chain Amino Acid Transaminase 1). Related phenotypes are intellectual disability and seizures

Description from OMIM: 238340

Related Diseases for Hyperleucine-Isoleucinemia

Symptoms & Phenotypes for Hyperleucine-Isoleucinemia

Human phenotypes related to Hyperleucine-Isoleucinemia:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 failure to thrive 33 HP:0001508
4 sensorineural hearing impairment 33 HP:0000407
5 abnormality of metabolism/homeostasis 33 HP:0001939
6 retinal degeneration 33 HP:0000546

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Hyperleucine-Isoleucinemia

Publications for Hyperleucine-Isoleucinemia

Articles related to Hyperleucine-Isoleucinemia:

# Title Authors Year
1
Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene. ( 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

Sources for Hyperleucine-Isoleucinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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