ORPHA:583612

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

Synonyms: 3-phosphoserine phosphatase deficiency, prenatal form

This disease is described under Neu-Laxova syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency	3-phosphoserine phosphatase deficiency, prenatal form
fr	Syndrome de Neu-Laxova par déficit en 3-phosphosérine phosphatase	Déficit en 3-phosphosérine phosphatase, forme prénatale
de	Neu-Laxova-Syndrom durch 3-Phosphoserin-Phosphatase-Mangel	3-Phosphoserin-Phosphatase-Defizienz, pränatale Form
es	Síndrome de Neu-Laxova por deficiencia de 3-fosfoserina fosfatasa	Deficiencia de 3-fosfoserina fosfatasa, forma prenatal
it	Sindrome di Neu-Laxova da deficit di 3-fosfoserina fosfatasi	Deficit di 3-fosfoserina fosfatasi, forma prenatale
nl	Syndroom van Neu-laxova door deficiëntie van 3-fosfoserinefosfatase	Deficiëntie van 3-fosfoserinefosfatase, prenatale vorm
pt	Síndrome Neu-Laxova por deficiência de 3-fosfoserina fosfatase	Deficiência de 3-fosfoserina fosfatase, forma pré-natal
pl	Zespół Neu'a i Laxovy z powodu deficytu fosfatazy 3-fosfoseryny	Zespół Neu i Laxova spowodowany niedoborem fosfatazy 3-fosfoserynowej
cs	Syndrom Neu-Laxové způsobený deficitem 3-fosfoserinfosfatázy	= en
uk	Синдром Ноя-Лаксова, зумовлений дефіцитом 3-фосфосеринфосфатази	Дефіцит 3-фосфосеринфосфатази, пренатальна форма
zh	3-磷酸丝氨酸磷酸酶缺乏所致Neu-laxova综合征	产前型3-磷酸丝氨酸磷酸酶缺乏症
tr	3-fosfoserin fosfataz eksikliğine bağlı Neu-laxova	3-fosfoserin fosfataz eksikliği, doğum öncesi formu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q87.8	NTBT	attributed	validated
ICD-11	LD20.1	NTBT	attributed	validated
MONDO	0035930	E		validated
UMLS	C5680338	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:2671Neu-Laxova syndrome
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PSPH	Disease-causing germline mutation(s) in	Assessed	HGNC:9577	ENSG00000146733	172480	7p11.2	phosphoserine phosphatase	25152457[PMID]

0 records

No prevalence record in this release.

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