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Alpha-N-acetylgalactosaminidase deficiency type 3

MedGen UID:
1772900
•Concept ID:
C5437471
•
Disease or Syndrome
Synonyms: ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III; Schindler disease, type 3; SCHINDLER DISEASE, TYPE III
SNOMED CT: Alpha-N-acetylgalactosaminidase deficiency type 3 (880066000); Schindler disease type 3 (880066000); NAGA (alpha-N-acetylgalactosaminidase) deficiency type 3 (880066000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019264
OMIM®: 104170; 609241
Orphanet: ORPHA79281

Definition

A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha-N-acetylgalactosaminidase deficiency type 3

Recent clinical studies

Diagnosis

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R
Anal Bioanal Chem 2014 Jul;406(18):4337-43. Epub 2014 May 2 doi: 10.1007/s00216-014-7832-6. PMID: 24788891

Clinical prediction guides

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R
Anal Bioanal Chem 2014 Jul;406(18):4337-43. Epub 2014 May 2 doi: 10.1007/s00216-014-7832-6. PMID: 24788891

Supplemental Content

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    • ClinVar
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
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    • PubMed
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    • PubMed (OMIM)
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