ORPHA:93400

Congenital sialidosis type 2

This disease is described under Sialidosis type 2

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital sialidosis type 2
fr	Sialidose type 2 congénitale
de	Sialidose Typ 2, kongenitale Form
es	Sialidosis tipo 2, forma congénita
it	Sialidosi tipo 2, forma congenita
nl	Sialidose type 2, congenitale vorm	Aangeboren sialidose type 2 · Congenitale sialidose type 2
pt	Sialidose tipo 2, forma congénita
pl	Sialidoza wrodzona typu 2
cs	Vrozená sialidóza, typ 2
uk	Вроджений сіалідоз, тип 2
zh	先天性唾液酸沉积症2型
tr	Doğumsal sialidoz tip 2

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	256550	NTBT		validated
ICD-10	E77.1	NTBT	attributed	validated
ICD-11	5C56.21	NTBT	index	validated
MONDO	0019682	E		validated
UMLS	C5681599	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:87876Sialidosis type 2
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare renal diseases; rare ophthalmic disorders; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NEU1	Disease-causing germline mutation(s) in	Assessed	HGNC:7758	ENSG00000204386	608272	6p21.33	neuraminidase 1	14695530[PMID]_19568825[PMID]

0 records

No prevalence record in this release.

42 annotations · validated 2020-09-09

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0001541	Ascites
HP:0000518	Cataract
HP:0010729	Cherry red spot of the macula
HP:0000280	Coarse facial features
HP:0000943	Dysostosis multiplex
HP:0000969	Edema
HP:0001263	Global developmental delay
HP:0000365	Hearing impairment
HP:0001433	Hepatosplenomegaly
HP:0001252	Hypotonia
HP:0000369	Low-set ears
Occasional (29-5%)
HP:0001627	Abnormal heart morphology
HP:0000077	Abnormality of the kidney
HP:0001251	Ataxia
HP:0007957	Corneal opacity
HP:0000519	Developmental cataract
HP:0002376	Developmental regression
HP:0001310	Dysmetria
HP:0000238	Hydrocephalus
HP:0007750	Hypoplasia of the fovea
HP:0000023	Inguinal hernia
HP:0001336	Myoclonus
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000967	Petechiae
HP:0011947	Respiratory tract infection
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0000486	Strabismus
HP:0001009	Telangiectasia
HP:0001537	Umbilical hernia
HP:0009891	Underdeveloped supraorbital ridges
HP:0000572	Visual loss
HP:0030506	Yellow/white lesions of the retina
Very rare (<4-1%)
HP:0003115	Abnormal EKG
HP:0004554	Generalized hypertrichosis
HP:0000212	Gingival overgrowth
HP:0002240	Hepatomegaly
HP:0000348	High forehead
HP:0000256	Macrocephaly
HP:0010442	Polydactyly
HP:0010808	Protruding tongue

Annotation source: 29693572[PMID]