ODCs

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1 OMIM reference -
1 associated gene
28 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
14 signs/symptoms

Alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

NAGA

Citations in the biomedical literature:

Alpha-N-acetylgalactosaminidase deficiency type 1		Alpha-N-acetylgalactosaminidase deficiency type 2
	Synonym(s): - NAGA deficiency type 1 - Schindler disease type 1		Synonym(s): - Adult-onset Alpha-N-acetylgalactosaminidase deficiency - Kanzaki disease - NAGA deficiency type 2 - Schindler disease type 2

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Hearing loss / hypoacusia / deafness - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphedema - Peripheral neuropathy - Telangiectasiae of the skin - Vascular anomalies of skin / mucosae

Alpha-N-acetylgalactosaminidase deficiency type 1		Alpha-N-acetylgalactosaminidase deficiency type 2
	Very frequent - Hypertonia / spasticity / rigidity / stiffness - Midbrain / brainstem / pons / medulla anomalies - Muscle weakness / flaccidity - Psychic / psychomotor regression / dementia / intellectual decline - Pyramidal syndrome - Visual loss / blindness / amblyopia Frequent - Autism / autistic disoders - Dizziness - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypotonia - Myoclonus / fasciculations - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Sensitive trouble / deficit - Strabismus / squint Occasional - Cardiomyopathy / hypertrophic / dilated - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Early death / lethality - Hepatomegaly / liver enlargement (excluding storage disease) - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness		Frequent - Cardiomegaly - Coarse face - Corneal clouding / opacity / vascularisation - Depressed nasal bridge - Thick lips - Tinnitus