Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Jump to:
loading...
Preferred Name

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Synonyms

Hyperphenylalaninemia due to BH4 deficiency
Definitions

A disorder of pterin metabolism characterized by tetrahydropterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.
ID

http://www.orpha.net/ORDO/Orphanet_238583
alternative_term

Hyperphenylalaninemia due to BH4 deficiency
definition

A disorder of pterin metabolism characterized by tetrahydropterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238583
has_age_of_onset

Infancy

Neonatal
has_inheritance

Autosomal recessive
hasDbXref

OMIM:261640

OMIM:264070

ICD-10:E70.1

OMIM:261630

OMIM:233910

UMLS:C0751436
label

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
notation

ORPHA:238583
part_of

http://www.orpha.net/ORDO/Orphanet_309819
prefixIRI

ORDO:Orphanet_238583
prefLabel

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
present_in

Brazil AND has_point_prevalence_average_value : 0.21 AND has_point_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000

Japan AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000
treeView

http://www.orpha.net/ORDO/Orphanet_309819
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display