MCID: HYP240
MIFTS: 12

Hyperleucine-Isoleucinemia

Aliases & Classifications for Hyperleucine-Isoleucinemia

MalaCards integrated aliases for Hyperleucine-Isoleucinemia:

Name: Hyperleucine-Isoleucinemia 57 29 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 sensorineural hearing impairment and retinal degeneration

Description from OMIM: 238340

Related Diseases for Hyperleucine-Isoleucinemia

Symptoms & Phenotypes for Hyperleucine-Isoleucinemia

Symptoms via clinical synopsis from OMIM:

57
Growth:
failure to thrive

HEENT:
retinal degeneration
sensorineural hearing loss

Neuro:
seizures
mental retardation

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


Clinical features from OMIM:

238340

Human phenotypes related to Hyperleucine-Isoleucinemia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 retinal degeneration 32 HP:0000546
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 failure to thrive 32 HP:0001508
6 abnormality of metabolism/homeostasis 32 HP:0001939

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 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 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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