loading...| Preferred Name |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C |
|
| Synonyms |
HPABH4C |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/261630 |
|
| altLabel |
HPABH4C DHPR DEFICIENCY HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY QDPR DEFICIENCY DIHYDROPTERIDINE REDUCTASE DEFICIENCY |
|
| cui |
C0268465 |
|
| Gene Locus |
4p15.31 |
|
| Gene Symbol |
QDPR DHPR |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU020106 http://purl.bioontology.org/ontology/OMIM/MTHU025919 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU000363 http://purl.bioontology.org/ontology/OMIM/MTHU025901 http://purl.bioontology.org/ontology/OMIM/MTHU010142 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU001903 http://purl.bioontology.org/ontology/OMIM/MTHU025920 http://purl.bioontology.org/ontology/OMIM/MTHU025908 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU025905 http://purl.bioontology.org/ontology/OMIM/MTHU005945 http://purl.bioontology.org/ontology/OMIM/MTHU025907 http://purl.bioontology.org/ontology/OMIM/MTHU000196 http://purl.bioontology.org/ontology/OMIM/MTHU025902 http://purl.bioontology.org/ontology/OMIM/MTHU025918 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
261630 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C |
|
| Scope Statement |
Diurnal fluctuation of neurologic symptoms [MISCELLANEOUS] Defect in tetrahydrobiopterin (BH4) synthesis [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the quinoid dihydropteridine reductase gene (QDPR, 612676.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Progressive neurologic deterioration if untreated [MISCELLANEOUS] Treatment with BH4 is effective [MISCELLANEOUS] Early treatment can reduce neurologic symptoms [MISCELLANEOUS] Neurotransmitter treatment with L-dopa and serotonin or precursors is effective [MISCELLANEOUS] |
|
| tui |
T047 |