ORPHA:93399

Juvenile sialidosis type 2

This disease is described under Sialidosis type 2

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Juvenile sialidosis type 2
fr	Sialidose type 2 juvénile
de	Sialidose Typ 2, juvenile Form
es	Sialidosis tipo 2, forma juvenil
it	Sialidosi tipo 2, forma giovanile
nl	Sialidose type 2, juveniele vorm	Juveniele sialidose type 2
pt	Sialidose tipo 2, forma juvenil
pl	Sialidoza młodzieńcza typu 2
cs	Juvenilní sialidóza, typ 2
uk	Ювенільний сіалідоз, тип 2
zh	青少年唾液酸沉积症2型
tr	Juvenil 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	0019681	E		validated
UMLS	C5681598	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	19568825[PMID]

0 records

No prevalence record in this release.

38 annotations · validated 2020-09-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000280	Coarse facial features
HP:0000943	Dysostosis multiplex
HP:0001263	Global developmental delay
HP:0003271	Visceromegaly
Frequent (79-30%)
HP:0000518	Cataract
HP:0010729	Cherry red spot of the macula
HP:0008947	Floppy infant
HP:0000365	Hearing impairment
HP:0001250	Seizure
Occasional (29-5%)
HP:0003312	Abnormal form of the vertebral bodies
HP:0001627	Abnormal heart morphology
HP:0000077	Abnormality of the kidney
HP:0002086	Abnormality of the respiratory system
HP:0001251	Ataxia
HP:0007957	Corneal opacity
HP:0001310	Dysmetria
HP:0002015	Dysphagia
HP:0001618	Dysphonia
HP:0004554	Generalized hypertrichosis
HP:0002123	Generalized myoclonic seizure
HP:0000212	Gingival overgrowth
HP:0002240	Hepatomegaly
HP:0001433	Hepatosplenomegaly
HP:0000023	Inguinal hernia
HP:0002505	Loss of ambulation
HP:0000369	Low-set ears
HP:0002061	Lower limb spasticity
HP:0001270	Motor delay
HP:0001336	Myoclonus
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0010808	Protruding tongue
HP:0001257	Spasticity
HP:0000486	Strabismus
HP:0001537	Umbilical hernia
HP:0009891	Underdeveloped supraorbital ridges
HP:0000572	Visual loss
Very rare (<4-1%)
HP:0010864	Intellectual disability, severe

Annotation source: 19568825[PMID]_29693572[PMID]