ORPHA:309252

Atypical Gaucher disease due to saposin C deficiency

This disease is described under Gaucher disease

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Atypical Gaucher disease due to saposin C deficiency
fr	Maladie de Gaucher atypique par déficit en saposine C
de	Gaucher-Krankheit, atypische, durch to Saposin C-Mangel
es	Enfermedad de Gaucher atípica por deficiencia de saposina C
it	Malattia atipica di Gaucher da deficit di saposina C
nl	Atypische ziekte van Gaucher door saposine C-deficiëntie
pt	Doença de Gaucher atípica, défice de saposinaC
pl	Atypowa choroba Gauchera z powodu niedoboru saposiny C
cs	Atypická Gaucherova nemoc způsobená deficitem saposinu C
uk	Атипова хвороба Гоше, зумовлена дефіцитом сапозину С
zh	鞘脂C缺乏症所致非典型戈谢病
tr	Saposin C eksikliğine bağlı atipik Gaucher hastalığı

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	610539	E		validated
ICD-10	E75.2	NTBT	attributed	validated
ICD-11	5C56.0Y	NTBT	index	validated
MONDO	0012517	E		validated
MeSH	C566435	E		validated
UMLS	C1864651	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:355Gaucher disease
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PSAP	Disease-causing germline mutation(s) in	Assessed	HGNC:9498	ENSG00000197746	176801	10q22.1	prosaposin

0 records

No prevalence record in this release.

19 annotations · validated 2024-12-11

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001433	Hepatosplenomegaly
Frequent (79-30%)
HP:6000611	Elevated circulating chitotriosidase activity
HP:6001185	Elevated circulating glucosylsphingosine concentration
HP:0001250	Seizure
HP:0001873	Thrombocytopenia
Occasional (29-5%)
HP:0001751	Abnormal vestibular function
HP:0001903	Anemia
HP:0001251	Ataxia
HP:0002353	EEG abnormality
HP:0000365	Hearing impairment
HP:0001252	Hypotonia
HP:0002808	Kyphosis
HP:0000252	Microcephaly
HP:0001336	Myoclonus
HP:0000545	Myopia
HP:0000602	Ophthalmoplegia
HP:0000938	Osteopenia
HP:0001337	Tremor
Excluded (0%)
HP:0003656	Decreased beta-glucocerebrosidase level

Annotation source: 35456468[PMID]_28457694[PMID]_26831127[PMID]_17919309[PMID]