MCID: HYP770
MIFTS: 10

Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlysinemia Due to Defect in Lysine Transport into...

MalaCards integrated aliases for Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria:

Name: Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hyperlysinemia due to defect in lysine transport into mitochondria:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 238710
MedGen 41 C1855927

Summaries for Hyperlysinemia Due to Defect in Lysine Transport into...

MalaCards based summary : Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria Related phenotypes are intellectual disability and hyperlysinemia

More information from OMIM: 238710

Related Diseases for Hyperlysinemia Due to Defect in Lysine Transport into...

Diseases in the Hyperlysinemia, Type I family:

Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria

Symptoms & Phenotypes for Hyperlysinemia Due to Defect in Lysine Transport into...

Human phenotypes related to Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hyperlysinemia 31 HP:0002161
3 mitochondrial lysine transport defect 31 HP:0008265

Symptoms via clinical synopsis from OMIM:

56
Lab:
hyperlysinemia
mitochondrial lysine transport defect
normal lysine-alpha-ketoglutarate reductase
normal saccharopine dehydrogenase

Neuro:
mental retardation

Clinical features from OMIM:

238710

Drugs & Therapeutics for Hyperlysinemia Due to Defect in Lysine Transport into...

Search Clinical Trials , NIH Clinical Center for Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria

Genetic Tests for Hyperlysinemia Due to Defect in Lysine Transport into...

Anatomical Context for Hyperlysinemia Due to Defect in Lysine Transport into...

Publications for Hyperlysinemia Due to Defect in Lysine Transport into...

Articles related to Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria:

# Title Authors PMID Year
1
A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria. 56
3099081 1986

Variations for Hyperlysinemia Due to Defect in Lysine Transport into...

Expression for Hyperlysinemia Due to Defect in Lysine Transport into...

Search GEO for disease gene expression data for Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria.

Pathways for Hyperlysinemia Due to Defect in Lysine Transport into...

GO Terms for Hyperlysinemia Due to Defect in Lysine Transport into...

Sources for Hyperlysinemia Due to Defect in Lysine Transport into...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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