ORPHA:708651

Phosphoribosylformylglycinamidine synthase deficiency

Synonyms: PFAS deficiency

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Phosphoribosylformylglycinamidine synthase deficiency	PFAS deficiency
fr	Déficit en phosphoribosylformylglycinamidine synthase	Déficit en PFAS
de	Phosphoribosylformylglycinamidin-Synthase-Defizienz	PFAS-Mangel
es	Deficiencia de fosforribosilformilglicinamidina sintasa	Deficiencia de PFAS
it	Deficit della fosforibosilformilglicinamidina sintasi	Deficit di PFAS
nl	Deficiëntie van fosforibosylformylglycinamidinesynthase	PFAS-deficiëntie
pt	Phosphoribosylformylglycinamidine synthase deficiency
pl	Niedobór syntazy fosforybozyloformyloglicynoamidyny	= en
cs	Phosphoribosylformylglycinamidine synthase deficiency	= en

qualifier = Orphanet mapping relation

No cross-references in this release.

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases
ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PFAS	Disease-causing germline mutation(s) in	Assessed	HGNC:8863	ENSG00000178921	602133	17p13.1	phosphoribosylformylglycinamidine synthase	40421664[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		2 cases	Worldwide	Case(s)	Validated	40421664[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	40421664[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

Orphanet has no HPO annotation for this code in this release.