MCID: HYP331
MIFTS: 21

Hyperphenylalaninemia, Bh4-Deficient, a malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

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MalaCards based summary: Hyperphenylalaninemia, Bh4-Deficient, a, also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, is related to 6-pyruvoyl-tetrahydropterin synthase deficiency and tetrahydrobiopterin deficiency, and has symptoms including An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-pyruvoyltetrahydropterin synthase).

Description from OMIM:46 261640

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

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Sources:
46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Hyperphenylalaninemia, Bh4-Deficient, a, Aliases & Descriptions:

Name: Hyperphenylalaninemia, Bh4-Deficient, a 46
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 48 62
 
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 48 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 261640
MESH via Orphanet35 C535325
ICD10 via Orphanet26 E70.1
UMLS via Orphanet63 C0878676

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, a

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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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Symptoms by clinical synopsis from OMIM:

261640

Clinical features from OMIM:

261640

HPO human phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, a:

(show all 22)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 irritability HP:0000737
4 seizures HP:0001250
5 ataxia HP:0001251
6 somnolence HP:0001262
7 global developmental delay HP:0001263
8 choreoathetosis HP:0001266
9 parkinsonism HP:0001300
10 dystonia HP:0001332
11 tremor HP:0001337
12 hyperreflexia HP:0001347
13 small for gestational age HP:0001518
14 episodic fever HP:0001954
15 dysphagia HP:0002015
16 poor suck HP:0002033
17 rigidity HP:0002063
18 bradykinesia HP:0002067
19 progressive neurologic deterioration HP:0002344
20 hyperphenylalaninemia HP:0004923
21 intellectual disability, progressive HP:0006887
22 muscular hypotonia of the trunk HP:0008936

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, a

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Drug clinical trials:

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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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UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, a:

64 (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:

6
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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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

Sources for Hyperphenylalaninemia, Bh4-Deficient, a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet