Alpha-mannosidosis, infantile form

Summary

Alpha-mannosidosis, infantile form (MONDO:0017732) is a disease. A subtype of alpha-mannosidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 88

Clinical features

Signs & symptoms

Clinical features (HPO)

88 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000388	Otitis media	Very frequent (80-99%)
HP:0000750	Delayed speech and language development	Very frequent (80-99%)
HP:0000943	Dysostosis multiplex	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001328	Specific learning disability	Very frequent (80-99%)
HP:0002719	Recurrent infections	Very frequent (80-99%)
HP:0002721	Immunodeficiency	Very frequent (80-99%)
HP:0010471	Oligosacchariduria	Very frequent (80-99%)
HP:0011842	Abnormality of skeletal morphology	Very frequent (80-99%)
HP:0012379	Abnormal enzyme/coenzyme activity	Very frequent (80-99%)
HP:0000280	Coarse facial features	Frequent (30-79%)
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000410	Mixed hearing impairment	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000518	Cataract	Frequent (30-79%)
HP:0000540	Hypermetropia	Frequent (30-79%)
HP:0000545	Myopia	Frequent (30-79%)
HP:0000736	Short attention span	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001256	Intellectual disability, mild	Frequent (30-79%)
HP:0001270	Motor delay	Frequent (30-79%)
HP:0001433	Hepatosplenomegaly	Frequent (30-79%)
HP:0002090	Pneumonia	Frequent (30-79%)
HP:0003198	Myopathy	Frequent (30-79%)
HP:0011334	Facial shape deformation	Frequent (30-79%)
HP:0025406	Asthenia	Frequent (30-79%)
HP:0031123	Recurrent gastroenteritis	Frequent (30-79%)
HP:0000158	Macroglossia	Occasional (5-29%)
HP:0000248	Brachycephaly	Occasional (5-29%)
HP:0000256	Macrocephaly	Occasional (5-29%)
HP:0000297	Facial hypotonia	Occasional (5-29%)
HP:0000303	Mandibular prognathia	Occasional (5-29%)
HP:0000337	Broad forehead	Occasional (5-29%)
HP:0000407	Sensorineural hearing impairment	Occasional (5-29%)
HP:0000470	Short neck	Occasional (5-29%)
HP:0000483	Astigmatism	Occasional (5-29%)
HP:0000520	Proptosis	Occasional (5-29%)
HP:0000543	Optic disc pallor	Occasional (5-29%)
HP:0000687	Widely spaced teeth	Occasional (5-29%)
HP:0000708	Atypical behavior	Occasional (5-29%)
HP:0000716	Depression	Occasional (5-29%)
HP:0000738	Hallucinations	Occasional (5-29%)
HP:0000739	Anxiety	Occasional (5-29%)
HP:0000746	Delusion	Occasional (5-29%)
HP:0000767	Pectus excavatum	Occasional (5-29%)
HP:0000768	Pectus carinatum	Occasional (5-29%)
HP:0000900	Thickened ribs	Occasional (5-29%)
HP:0000926	Platyspondyly	Occasional (5-29%)
HP:0000938	Osteopenia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	alpha-mannosidosis, infantile form
Mondo ID	MONDO:0017732
Orphanet	309282
UMLS	C0342847
MedGen	575250
GARD	0017407
Is cancer (heuristic)	no

Also known as: lysosomal alpha-D-mannosidase deficiency, infantile form

Disease family

This is a subtype of alpha-mannosidosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › alpha-mannosidosis › alpha-mannosidosis, infantile form

Related subtypes (2): alpha-mannosidosis, adult form, alpha-mannosidosis type 1

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.