raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:309282

Alpha-mannosidosis, infantile form

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

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Infancy
Status
active

This disease is described under Alpha-mannosidosis

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAlpha-mannosidosis, infantile formLysosomal alpha-D-mannosidase deficiency, infantile form
frAlpha-mannosidose infantileDéficit en alpha-D-mannosidase lysosomale, forme infantile
deAlpha-Mannosidose, infantile FormLysosomaler alpha-D-Mannosidase-Mangel, infantile Form
esAlfa-manosidosis, forma infantilDeficiencia de alfa-D-manosidasa lisosomal, forma infantil
itAlfa-mannosidasi, forma infantileDeficit di alfa-D-mannosidasi lisosomiale, forma infantile
nlAlfa-mannosidose, infantiele vormLysosomale alfa-D-mannosidasedeficiëntie, infantiele vorm
ptAlfa-manosidose, forma da infância
plAlfa-mannozydoza, postać niemowlęcaNiedobór lizosomalnej alfa-D-mannozydazy, postać niemowlęca
csAlfa-mannosidóza, infantilní formaDeficit alfa-D-mannosidózy, infantilní forma
ukАльфа-маннозидоз, інфантильна формаДефіцит лізосомальної альфа-D-манозидази, інфантильна форма
zh婴儿型α-甘露糖苷贮积症婴儿型溶酶体α-D-甘露糖苷贮积症
trAlfa-mannosidoz, çocukluk formuLizozomal alfa-D-mannosidaz eksikliği, infantil form
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM248500NTBTvalidated
ICD-10E77.1NTBTattributedvalidated
ICD-115C56.21NTBTindexvalidated
MONDO0017732Evalidated

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

3

Classification

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.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
MAN2B1Disease-causing germline mutation(s) inAssessedHGNC:6826ENSG0000010477460945819p13.13mannosidase alpha class 2B member 119958498[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

88 annotations · validated 2020-02-04
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0012379Abnormal enzyme/coenzyme activity
HP:0011842Abnormality of skeletal morphology
HP:0000750Delayed speech and language development
HP:0000943Dysostosis multiplex
HP:0002721Immunodeficiency
HP:0001249Intellectual disability
HP:0010471Oligosacchariduria
HP:0000388Otitis media
HP:0002719Recurrent infections
HP:0001328Specific learning disability
Frequent (79-30%)
HP:0025406Asthenia
HP:0001251Ataxia
HP:0000518Cataract
HP:0000280Coarse facial features
HP:0011334Facial shape deformation
HP:0001433Hepatosplenomegaly
HP:0000540Hypermetropia
HP:0000316Hypertelorism
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0000410Mixed hearing impairment
HP:0001270Motor delay
HP:0003198Myopathy
HP:0000545Myopia
HP:0002090Pneumonia
HP:0031123Recurrent gastroenteritis
HP:0000736Short attention span
HP:0000486Strabismus
Occasional (29-5%)
HP:0002679Abnormality of the sella turcica
HP:0430022Abnormality of the sphenoid sinus
HP:0000739Anxiety
HP:0000483Astigmatism
HP:0000708Atypical behavior
HP:0010885Avascular necrosis
HP:0008936Axial hypotonia
HP:0010665Bilateral coxa valga
HP:0001776Bilateral talipes equinovarus
HP:0000248Brachycephaly
HP:0000337Broad forehead
HP:0001272Cerebellar atrophy
HP:0002120Cerebral cortical atrophy
HP:0002308Chiari malformation
HP:0002312Clumsiness
HP:0001289Confusion
HP:0007957Corneal opacity
HP:0005791Cortical thickening of long bone diaphyses
HP:0004437Cranial hyperostosis
HP:0001363Craniosynostosis
HP:0000746Delusion
HP:0005280Depressed nasal bridge
HP:0000716Depression
HP:0001519Disproportionate tall stature
HP:0002329Drowsiness
HP:0000297Facial hypotonia
HP:0012368Flat face
HP:0002857Genu valgum
HP:0000738Hallucinations
HP:0002553Highly arched eyebrow
HP:0008821Hypoplastic inferior ilia
HP:0001382Joint hypermobility
HP:0001387Joint stiffness
HP:0000256Macrocephaly
HP:0000158Macroglossia
HP:0000303Mandibular prognathia
HP:0001653Mitral regurgitation
HP:0000543Optic disc pallor
HP:0002797Osteolysis
HP:0000938Osteopenia
HP:0001876Pancytopenia
HP:0000768Pectus carinatum
HP:0000767Pectus excavatum
HP:0000926Platyspondyly
HP:0011220Prominent forehead
HP:0000520Proptosis
HP:0000407Sensorineural hearing impairment
HP:0000470Short neck
HP:0000977Soft skin
HP:0001258Spastic paraplegia
HP:0012157Subcortical cerebral atrophy
HP:0004684Talipes valgus
HP:0002684Thickened calvaria
HP:0000900Thickened ribs
HP:0001537Umbilical hernia
HP:0000687Widely spaced teeth
Very rare (<4-1%)
HP:0001659Aortic regurgitation
HP:0001334Communicating hydrocephalus
HP:0002371Loss of speech
HP:0000010Recurrent urinary tract infections

Run the differential on the 10 obligate / very frequent terms

Annotation source: 27814608[PMID]_20301570[PMID]_31241255[PMID]

7

Sources for this card