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Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

MedGen UID:
1814445
•Concept ID:
C5680002
•
Disease or Syndrome
Synonyms: ANOAC; ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome; Axonal neuropathy, optic atrophy, cognitive deficit syndrome; Axonal neuropathy-optic atrophy-cognitive deficit syndrome; axonal neuropathy-optic atrophy-cognitive deficit syndrome; Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome; infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
SNOMED CT: ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome (1260129000); Axonal neuropathy, optic atrophy, cognitive deficit syndrome (1260129000); Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (1260129000)
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:0018705
Orphanet: ORPHA457205

Definition

A rare neurologic disease with characteristics of axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

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