HYPLYS1
MCID: HYP036
MIFTS: 38

Hyperlysinemia (HYPLYS1) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hyperlysinemia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Hyperlysinemia:

Name: Hyperlysinemia 52 11 48 25 54 27 12 13
Lysine Intolerance 48 24 70 68
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 25 68
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 48 70
Alpha-Aminoadipic Semialdehyde Deficiency Disease 25 68
Lysine Alpha-Ketoglutarate Reductase Deficiency 48 54
Hyperlysinemia Type I 54 70
Saccharopinuria 25 68
Hyperlysinemias 39 68
Lysine:alpha-Ketoglutarate Reductase Deficiency 70
 
Saccharopine Dehydrogenase Deficiency Disease 25
L-Lysine Nad-Oxido-Reductase Deficiency 48
Alpha-Aminoadipic Semialdehyde Synthase 12
L-Lysine:nad-Oxido-Reductase Deficiency 70
Saccharopine Dehydrogenase Deficiency 68
Familial Hyperlysinemia 25
Hyperlysinemia, Type I 68
Hyperlysinemia Type 1 24
Hyperlysinemia, 1 70
Hyplys1 70

Characteristics:

Orphanet epidemiological data:

54
hyperlysinemia:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age

HPO:

64
hyperlysinemia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, phenotypic variability

Classifications:



External Ids:

OMIM52 238700
Disease Ontology11 DOID:9274
ICD1030 E72.3
MeSH39 D020167
NCIt45 C123433
SNOMED-CT62 58558003
Orphanet54 ORPHA2203
UMLS via Orphanet69 C0936256, C0268553
MESH via Orphanet40 D020167
ICD10 via Orphanet31 E72.3

Summaries for Hyperlysinemia

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OMIM:52 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, abnormality of the genitourinary system and short attention span. An important gene associated with Hyperlysinemia is AASS (Aminoadipate-Semialdehyde Synthase), and among its related pathways are Amino Acid metabolism and Fatty Acid Biosynthesis (WikiPathways).

Disease Ontology:11 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:48 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:70 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

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Graphical network of diseases related to Hyperlysinemia:



Diseases related to hyperlysinemia

Symptoms & Phenotypes for Hyperlysinemia

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Symptoms by clinical synopsis from OMIM:

238700

Clinical features from OMIM:

238700

Human phenotypes related to Hyperlysinemia:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 abnormality of the genitourinary system64 HP:0000119
2 short attention span64 HP:0000736
3 delayed speech and language development64 HP:0000750
4 hyperactivity64 HP:0000752
5 ectopia lentis64 HP:0001083
6 intellectual disability64 HP:0001249
7 seizures64 HP:0001250
8 muscular hypotonia64 HP:0001252
9 intellectual disability, mild64 HP:0001256
10 anemia64 HP:0001903
11 hyperlysinemia64 HP:0002161
12 cognitive impairment64 HP:0100543

UMLS symptoms related to Hyperlysinemia:


seizures

Drugs & Therapeutics for Hyperlysinemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperlysinemia


Cochrane evidence based reviews: hyperlysinemias

Genetic Tests for Hyperlysinemia

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Genetic tests related to Hyperlysinemia:

id Genetic test Affiliating Genes
1 Hyperlysinemia27
2 Hyperlysinemia Type 124 AASS

Anatomical Context for Hyperlysinemia

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Publications for Hyperlysinemia

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Articles related to Hyperlysinemia:

(show all 25)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Hyperlysinemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AASSNM_ 005763.3(AASS): c.2662+1_ 2662+5delGTAAGinsTTindelPathogenicrs587777121GRCh37Chr 7, 121717887: 121717891
2AASSNM_ 005763.3(AASS): c.874A> G (p.Ile292Val)SNVPathogenicrs587777122GRCh37Chr 7, 121756707: 121756707
3AASSNM_ 005763.3(AASS): c.976_ 977delCA (p.Gln326Glufs)deletionPathogenicrs587777123GRCh37Chr 7, 121755194: 121755195
4AASSNM_ 005763.3(AASS): c.1925C> G (p.Ser642Ter)SNVPathogenicrs587777124GRCh37Chr 7, 121731848: 121731848
5AASSNM_ 005763.3(AASS): c.194G> A (p.Arg65Gln)SNVPathogenicrs587777125GRCh37Chr 7, 121773587: 121773587
6AASSNM_ 005763.3(AASS): c.1256T> G (p.Leu419Arg)SNVPathogenicrs587777126GRCh37Chr 7, 121753194: 121753194
7AASSNM_ 005763.3(AASS): c.1601_ 1609delGTAAACAAG (p.Cys534_ Ala871delinsTer)deletionPathogenicrs387906333GRCh37Chr 7, 121738550: 121738558

Expression for genes affiliated with Hyperlysinemia

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Search GEO for disease gene expression data for Hyperlysinemia.

Pathways for genes affiliated with Hyperlysinemia

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Pathways related to Hyperlysinemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6OTC, PC
2
Show member pathways
9.2DECR1, PC

GO Terms for genes affiliated with Hyperlysinemia

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057598.8AASS, DECR1, NADK2, OTC, PC
2mitochondrionGO:00057397.5AASS, DECR1, NADK2, OTC, PC, PEX5

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:00066359.8DECR1, PEX5
2metabolic processGO:00081529.3AASS, NADK2, PC

Sources for Hyperlysinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet