ORPHA:309288

Alpha-mannosidosis, adult form

Synonyms: Lysosomal alpha-D-mannosidase deficiency, adult form

This disease is described under Alpha-mannosidosis

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Alpha-mannosidosis, adult form	Lysosomal alpha-D-mannosidase deficiency, adult form
fr	Alpha-mannosidose de l'adulte	Déficit en alpha-D-mannosidase lysosomale, forme adulte
de	Alpha-Mannosidose, adulte Form	Lysosomaler alpha-D-Mannosidase-Mangel, adulte Form
es	Alfa-manosidosis, forma adulta	Deficiencia de alfa-D-manosidasa lisosomal, forma adulta
it	Alfa-mannosidosi, forma dell'adulto	Deficit di alfa-D-mannosidasi lisosomiale, forma dell'adulto
nl	Alfa-mannosidose, volwassen vorm	Lysosomale alfa-D-mannosidasedeficiëntie, volwassen vorm
pt	Alfa - manosidose, forma adulta
pl	Alfa-mannozydoza, postać dorosłych	Niedobór lizosomalnej alfa-D-mannozydazy, postać dorosłych
cs	Alfa-mannosidóza, adultní forma	Deficit alfa-D-mannosidózy, adultní forma
uk	Альфа-маннозидоз, доросла форма	Дефіцит лізосомальної альфа-D-манозидази, доросла форма
zh	成人型α-甘露糖苷贮积症	成人型溶酶体α-D-甘露糖苷贮积症
tr	Alfa-mannosidoz, yetişkin formu	Lizozomal alfa-D-mannosidaz eksikliği, erişkin form

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	248500	NTBT		validated
ICD-10	E77.1	NTBT	attributed	validated
ICD-11	5C56.21	NTBT	index	validated
MONDO	0017733	E		validated
UMLS	C5679974	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:61Alpha-mannosidosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MAN2B1	Disease-causing germline mutation(s) in	Assessed	HGNC:6826	ENSG00000104774	609458	19p13.13	mannosidase alpha class 2B member 1	19958498[PMID]

0 records

No prevalence record in this release.

30 annotations · validated 2020-02-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001256	Intellectual disability, mild
HP:0010471	Oligosacchariduria
Frequent (79-30%)
HP:0025406	Asthenia
HP:0001251	Ataxia
HP:0002719	Recurrent infections
Occasional (29-5%)
HP:0000739	Anxiety
HP:0000708	Atypical behavior
HP:0000518	Cataract
HP:0001272	Cerebellar atrophy
HP:0002120	Cerebral cortical atrophy
HP:0002312	Clumsiness
HP:0001289	Confusion
HP:0000750	Delayed speech and language development
HP:0000746	Delusion
HP:0000716	Depression
HP:0002329	Drowsiness
HP:0000738	Hallucinations
HP:0001433	Hepatosplenomegaly
HP:0002721	Immunodeficiency
HP:0000158	Macroglossia
HP:0000410	Mixed hearing impairment
HP:0000545	Myopia
HP:0000938	Osteopenia
HP:0002090	Pneumonia
HP:0031123	Recurrent gastroenteritis
HP:0012157	Subcortical cerebral atrophy
Very rare (<4-1%)
HP:0001659	Aortic regurgitation
HP:0007957	Corneal opacity
HP:0000543	Optic disc pallor
HP:0001876	Pancytopenia

Annotation source: 30792122[PMID]_20301570[PMID]_27814608[PMID]