MCID: HYP331
MIFTS: 21

Hyperphenylalaninemia, Bh4-Deficient, a malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

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48OMIM, 34MalaCards
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MalaCards: Hyperphenylalaninemia, Bh4-Deficient, a, also known as 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to 6-pyruvoyl-tetrahydropterin synthase deficiency and tetrahydrobiopterin deficiency. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-pyruvoyltetrahydropterin synthase).

Description from OMIM:48 261640

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

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50Orphanet, 63UMLS, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperphenylalaninemia, bh4-deficient, a 48
6-pyruvoyl-tetrahydropterin synthase deficiency 50 63
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency 50


External Ids:

OMIM48 261640
MESH via Orphanet37 C535325
ICD10 via Orphanet27 E70.1
UMLS via Orphanet64 C0878676

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, a

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18GeneCards, 19GeneDecks
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Diseases in the Bh4-Deficient Hyperphenylalaninemia C family:

hyperphenylalaninemia, bh4-deficient, a

Diseases related to Hyperphenylalaninemia, Bh4-Deficient, a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
16-pyruvoyl-tetrahydropterin synthase deficiency11.2
2tetrahydrobiopterin deficiency10.7
3generalized dystonia10.5
4dystonia10.5
5hyperphenylalaninemia10.5
6mild hyperphenylalaninemia10.5

Graphical network of diseases related to Hyperphenylalaninemia, Bh4-Deficient, a:



Diseases related to hyperphenylalaninemia, bh4-deficient, a

Symptoms for Hyperphenylalaninemia, Bh4-Deficient, a

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48OMIM
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Symptoms by clinical synopsis from OMIM:

261640

Clinical features from OMIM:

261640

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, a

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, a

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Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, a

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Animal Models for Hyperphenylalaninemia, Bh4-Deficient, a or affiliated genes

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Publications for Hyperphenylalaninemia, Bh4-Deficient, a

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Variations for Hyperphenylalaninemia, Bh4-Deficient, a

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, a:

65 (show all 24)
id Symbol AA change Variation ID SNP ID
1PTSp.Arg16CysVAR_006816
2PTSp.Arg25GlyVAR_006817
3PTSp.Arg25GlnVAR_006818
4PTSp.Glu35GlyVAR_006819
5PTSp.Asn36LysVAR_006820
6PTSp.Asn52SerVAR_006821
7PTSp.Val56MetVAR_006822
8PTSp.Thr67MetVAR_006824
9PTSp.Val70AspVAR_006825
10PTSp.Pro87LeuVAR_006826
11PTSp.Pro87SerVAR_006827rs104894276
12PTSp.Asp96AsnVAR_006828rs104894280
13PTSp.Phe100ValVAR_006829
14PTSp.Thr106MetVAR_006830
15PTSp.Ile114ValVAR_006831
16PTSp.Lys129GluVAR_006832
17PTSp.Asp136ValVAR_006833
18PTSp.Asn47AspVAR_008040
19PTSp.Asp116GlyVAR_008041
20PTSp.Leu26PheVAR_058265
21PTSp.Val97MetVAR_058266
22PTSp.Tyr99CysVAR_058267
23PTSp.Val124LeuVAR_058268
24PTSp.Asp136GlyVAR_058269

Clinvar genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, a:

1
id Gene Name Type Significance SNP ID Assembly Location
1PTSNM_000317.2(PTS): c.74G> A (p.Arg25Gln)single nucleotide variantPathogenicrs104894273GRCh37Chr 11, 112097240: 112097240
2PTSNM_000317.2(PTS): c.155A> G (p.Asn52Ser)single nucleotide variantPathogenicrs104894275GRCh37Chr 11, 112099388: 112099388
3PTSNM_000317.2(PTS): c.259C> T (p.Pro87Ser)single nucleotide variantPathogenicrs104894276GRCh37Chr 11, 112103901: 112103901
4PTSNM_000317.2(PTS): c.166G> A (p.Val56Met)single nucleotide variantPathogenicrs104894277GRCh37Chr 11, 112100933: 112100933
5PTSNM_000317.2(PTS): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs104894280GRCh37Chr 11, 112103928: 112103928
6PTSPTS, 55-BP DEL, NT694deletionPathogenic
7PTSPTS, IVS1, -322A-Tsingle nucleotide variantPathogenic

Expression for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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Pathways for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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Compounds for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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GO Terms for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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Products for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphenylalaninemia, Bh4-Deficient, a

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet