HYPLYS1
MCID: HYP036
MIFTS: 38

Hyperlysinemia (HYPLYS1) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hyperlysinemia

Aliases & Descriptions for Hyperlysinemia:

Name: Hyperlysinemia 54 12 50 25 56 29 13 14
Lysine Intolerance 50 24 66 69
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 25 69
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 50 66
Alpha-Aminoadipic Semialdehyde Deficiency Disease 25 69
Lysine Alpha-Ketoglutarate Reductase Deficiency 50 56
Hyperlysinemia Type I 56 66
Saccharopinuria 25 69
Hyperlysinemias 42 69
Lysine:alpha-Ketoglutarate Reductase Deficiency 66
Saccharopine Dehydrogenase Deficiency Disease 25
L-Lysine Nad-Oxido-Reductase Deficiency 50
L-Lysine:nad-Oxido-Reductase Deficiency 66
Alpha-Aminoadipic Semialdehyde Synthase 13
Saccharopine Dehydrogenase Deficiency 69
Familial Hyperlysinemia 25
Hyperlysinemia, Type I 69
Hyperlysinemia Type 1 24
Hyperlysinemia, 1 66
Hyplys1 66

Characteristics:

Orphanet epidemiological data:

56
hyperlysinemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

HPO:

32
hyperlysinemia:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability infantile onset


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 238700
Disease Ontology 12 DOID:9274
ICD10 33 E72.3
MeSH 42 D020167
NCIt 47 C123433
SNOMED-CT 64 58558003
Orphanet 56 ORPHA2203
UMLS via Orphanet 70 C0936256 C0268553
MESH via Orphanet 43 D020167
ICD10 via Orphanet 34 E72.3
UMLS 69 C0268553

Summaries for Hyperlysinemia

OMIM : 54 Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who... (238700) more...

MalaCards based summary : Hyperlysinemia, also known as lysine intolerance, is related to saccharopinuria and 2,4-dienoyl-coa reductase deficiency, and has symptoms including seizures, intellectual disability and muscular hypotonia. An important gene associated with Hyperlysinemia is AASS (Aminoadipate-Semialdehyde Synthase), and among its related pathways/superpathways are Amino Acid metabolism and Fatty Acid Biosynthesis (WikiPathways).

Disease Ontology : 12 An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

Genetics Home Reference : 25 Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. It is not clear whether these problems are due to hyperlysinemia or another cause.

NIH Rare Diseases : 50 hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine. hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. rarely, people with hyperlysinemia have intellectual disability or behavioral problems. hyperlysinemia is caused by mutations in the aass gene. it has an autosomal recessive pattern of inheritance. last updated: 1/28/2013

UniProtKB/Swiss-Prot : 66 Hyperlysinemia, 1: An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant.

Wikipedia : 71 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Related Diseases for Hyperlysinemia

Graphical network of the top 20 diseases related to Hyperlysinemia:



Diseases related to Hyperlysinemia

Symptoms & Phenotypes for Hyperlysinemia

Symptoms by clinical synopsis from OMIM:

238700

Clinical features from OMIM:

238700

Human phenotypes related to Hyperlysinemia:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 delayed speech and language development 32 HP:0000750
5 cognitive impairment 32 HP:0100543
6 intellectual disability, mild 32 HP:0001256
7 anemia 32 HP:0001903
8 ectopia lentis 32 HP:0001083
9 hyperactivity 32 HP:0000752
10 abnormality of the genitourinary system 32 HP:0000119
11 short attention span 32 HP:0000736
12 hyperlysinemia 32 HP:0002161

UMLS symptoms related to Hyperlysinemia:


seizures

Drugs & Therapeutics for Hyperlysinemia

Search Clinical Trials , NIH Clinical Center for Hyperlysinemia

Cochrane evidence based reviews: hyperlysinemias

Genetic Tests for Hyperlysinemia

Genetic tests related to Hyperlysinemia:

id Genetic test Affiliating Genes
1 Hyperlysinemia 29
2 Hyperlysinemia Type 1 24 AASS

Anatomical Context for Hyperlysinemia

Publications for Hyperlysinemia

Articles related to Hyperlysinemia:

(show all 25)
id Title Authors Year
1
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. ( 24847004 )
2014
2
Genetic basis of hyperlysinemia. ( 23570448 )
2013
3
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. ( 10775527 )
2000
4
Familial hyperlysinemia in a patient presenting with progressive spastic paraparesis. ( 8797497 )
1996
5
[Hyperlysinemia and hyperammonemia]. ( 1904697 )
1991
6
Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. ( 6434529 )
1984
7
The prognosis of hyperlysinemia: an interim report. ( 6407303 )
1983
8
Hyperlysinemia without clinical findings. ( 6798824 )
1981
9
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. ( 571908 )
1979
10
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. ( 463877 )
1979
11
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities. ( 904980 )
1977
12
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. ( 977722 )
1976
13
Multiple enzyme defects in familial hyperlysinemia. ( 934735 )
1976
14
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria. ( 982431 )
1976
15
Excretion of hypusine by children and by patients with familial hyperlysinemia. ( 4753051 )
1973
16
Effects of experimentally induced hyperlysinemia on maze learning in mice. ( 4795484 )
1973
17
Ocular manifestations of familial hyperlysinemia. ( 5557172 )
1971
18
Excretion of pipecolic acid by infants and by patients with hyperlysinemia. ( 5417004 )
1970
19
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. ( 5796356 )
1969
20
Further studies on hyperlysinemia associated with retardation. ( 6015892 )
1967
21
A case of hyperlysinemia: biochemical and clinical observations. ( 6022933 )
1967
22
Paths of lysine degradation in patients with hyperlysinemia. ( 6074139 )
1967
23
Further studies of hyperlysinemia. ( 5928822 )
1966
24
Hyperlysinemia associated with retardation. ( 5825685 )
1965
25
HYPERLYSINEMIA. ( 14209691 )
1964

Variations for Hyperlysinemia

ClinVar genetic disease variations for Hyperlysinemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AASS NM_005763.3(AASS): c.1601_1609delGTAAACAAG (p.Cys534_Ala871delinsTer) deletion Pathogenic rs387906333 GRCh37 Chromosome 7, 121738550: 121738558
2 AASS NM_005763.3(AASS): c.2662+1_2662+5delGTAAGinsTT indel Pathogenic rs587777121 GRCh37 Chromosome 7, 121717887: 121717891
3 AASS NM_005763.3(AASS): c.874A> G (p.Ile292Val) single nucleotide variant Pathogenic rs587777122 GRCh37 Chromosome 7, 121756707: 121756707
4 AASS NM_005763.3(AASS): c.976_977delCA (p.Gln326Glufs) deletion Pathogenic rs587777123 GRCh37 Chromosome 7, 121755194: 121755195
5 AASS NM_005763.3(AASS): c.1925C> G (p.Ser642Ter) single nucleotide variant Pathogenic rs587777124 GRCh37 Chromosome 7, 121731848: 121731848
6 AASS NM_005763.3(AASS): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777125 GRCh37 Chromosome 7, 121773587: 121773587
7 AASS NM_005763.3(AASS): c.1256T> G (p.Leu419Arg) single nucleotide variant Pathogenic rs587777126 GRCh37 Chromosome 7, 121753194: 121753194

Expression for Hyperlysinemia

Search GEO for disease gene expression data for Hyperlysinemia.

Pathways for Hyperlysinemia

Pathways related to Hyperlysinemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.91 OTC PC
2 9.97 DECR1 PC

GO Terms for Hyperlysinemia

Cellular components related to Hyperlysinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 AASS DECR1 NADK2 OTC PC PEX5
2 mitochondrial matrix GO:0005759 9.02 AASS DECR1 NADK2 OTC PC

Biological processes related to Hyperlysinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.13 AASS NADK2 PC
2 fatty acid beta-oxidation GO:0006635 8.62 DECR1 PEX5

Sources for Hyperlysinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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