Disease #05683 (HPA (hyperphenylalaninemia (HPA)))

Official abbreviation HPA
Name hyperphenylalaninemia (HPA)
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 37
Phenotype entries for this disease 37
Associated with 4 genes GCH1, PCBD1, PTS, QDPR
Associated tissues -
Disease features -
Remarks -
Date created 2020-01-06 17:35:01 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00275529 FamAPatIV2 PubMed: Anikster 2017 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Morocco - - - - - HPA hyperphenylalaninemia; no developmental delay/intellectual disability; dystonia; no speech delay; axial hypotonia; no limb hypertonia; no Parkinsonism; nystagmus; no oculogyric crisis; no attention difficulties; no autistic features DNAJC12 DNAJC12 1 2 Johan den Dunnen
00275530 FamAPatIV4 PubMed: Anikster 2017 - F yes Morocco - - - - - HPA hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275531 FamBPatIV1 PubMed: Anikster 2017 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes - Arab-Muslim - - - - HPA hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; no speech delay; no axial hypotonia; no limb hypertonia; Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features DNAJC12 DNAJC12 1 2 Johan den Dunnen
00275532 FamBPatIV2 PubMed: Anikster 2017 - M yes - Arab-Muslim - - - - HPA hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties; no autistic features DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275533 FamCPatII2 PubMed: Anikster 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - HPA hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; oculogyric crisis; no attention difficulties; no autistic features DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275534 FamDPatIV1 PubMed: Anikster 2017 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Morocco - - - - - HPA hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; autistic features DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275535 FamPat1A PubMed: van Spronsen 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Netherlands white - - - - HPA dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties DNAJC12 DNAJC12 2 2 Johan den Dunnen
00275536 FamPat1B PubMed: van Spronsen 2017 - F no Netherlands white - - - - HPA no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties DNAJC12 DNAJC12 2 1 Johan den Dunnen
00275537 FamPat2A PubMed: van Spronsen 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - HPA no dystonia; no speech delay; no intellectual disability; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features DNAJC12 DNAJC12 1 2 Johan den Dunnen
00275538 FamPat2B PubMed: van Spronsen 2017 - - yes Saudi Arabia - - - - - HPA no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275539 FamPat3 PubMed: van Spronsen 2017 - - yes Saudi Arabia - - - - - HPA no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275542 Pat PubMed: de Sain-van der Velden 2018 2-generation family, 2 affected, unaffected parents/relatives M yes Morocco - - - - - HPA see paper; ..., developmental delay, extrapyramidal movement disorder, persistently elevated plasma phenylalanine levels DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275543 FamPat1 PubMed: Veenma 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M yes Afghanistan - - - - - HPA see paper; ... DNAJC12 DNAJC12 1 2 Johan den Dunnen
00275544 FamPat2 PubMed: Veenma 2018 - M yes Afghanistan - - - - - HPA see paper; ... DNAJC12 DNAJC12 1 1 Johan den Dunnen
00275880 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275881 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275882 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275883 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275884 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275885 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275886 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275887 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 1 1 Johan den Dunnen
00275888 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 2 1 Johan den Dunnen
00275889 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - DNAJC12, PAH DNAJC12 2 1 Johan den Dunnen
00402000 MD130 PubMed: Meili 2009 2-generation family, 1 affected, unaffected parents M - Switzerland - - - - - HPA yperphenylalaninaemia, monoamine neurotransmitter deficiency PTS PTS 2 1 Johan den Dunnen
00402001 MD96 PubMed: Meili 2009 2-generation family, 1 affected, unaffected parents F yes Morocco - - - - - HPA found by neonatal screening PTS PTS 1 1 Johan den Dunnen
00420837 FamWPatBF PubMed: Chen 2002 2-generation family, 1 affected, unaffected heterozygous carrier mother - - Taiwan - - - - - HPA hyperphenylalaninemia PAH PAH 2 1 Johan den Dunnen
00421513 A1-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - GCH1 2 1 Johan den Dunnen
00421514 A2-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - PTS 2 1 Johan den Dunnen
00421515 B1-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - GCH1 1 1 Johan den Dunnen
00421516 B2-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - PTS 2 1 Johan den Dunnen
00421517 C1-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - GCH1 1 1 Johan den Dunnen
00421518 C2-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - PTS 1 1 Johan den Dunnen
00421519 E1-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - QDPR 1 1 Johan den Dunnen
00421520 F1-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - QDPR 1 1 Johan den Dunnen
00421521 G1-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - QDPR 1 1 Johan den Dunnen
00421522 H1-O PubMed: Trujillano 2014 - - - Spain - - - - - HPA - - PTS 2 1 Johan den Dunnen
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