MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandautosomal recessive axonal hereditary motor and sensory neuropathy (MONDO:0019601)
Parent Node:
expandeye degenerative disease (MONDO:0004884)
Parent Node:
expandinherited neurodegenerative disorder (MONDO:0024237)
Parent Node:
expandsyndromic hereditary optic neuropathy (MONDO:0018609)
..Starting node
..expandinfantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ()

       Child Nodes:



 Sister Nodes: 
..expand3-methylglutaconic aciduria type 3 ()  LSDB  L: 00496;
..expandAl Gazali Khidr Prem Chandran syndrome ()
..expandautosomal recessive optic atrophy, OPA7 type ()
..expandBehr syndrome ()
..expandc11orf73-related autosomal recessive hypomyelinating leukodystrophy ()
..expandc12orf65-related combined oxidative phosphorylation defect ()
..expandCAMOS syndrome ()
..expandcerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ()
..expandCharcot-Marie-Tooth disease X-linked recessive 5 ()
..expanddeafness dystonia syndrome ()  LSDB  L: 00113;
..expanddystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ()
..expandearly-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ()
..expandearly-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ()
..expandfatty acid hydroxylase-associated neurodegeneration ()
..expandgapo syndrome ()
..expandhereditary spastic paraplegia 2 ()
..expandhereditary spastic paraplegia 7 ()  LSDB  L: 00497;
..expandinfantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ()
..expandLeigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome ()  LSDB  L: 00525;
..expandmultiple mitochondrial dysfunctions syndrome 4 ()  LSDB  L: 00530;
..expandneurodegeneration with brain iron accumulation 4 ()  LSDB  L: 00422;
..expandneurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ()
..expandoptic atrophy 2 ()
..expandoptic atrophy-intellectual disability syndrome ()
..expandoptic atrophy-peripheral neuropathy-developmental delay syndrome ()
..expandPEHO syndrome ()
..expandPelizaeus-Merzbacher disease ()
..expandpolymicrogyria with optic nerve hypoplasia ()
..expandseptooptic dysplasia ()
..expandsevere X-linked intellectual disability, Gustavson type ()
..expandshort stature-optic atrophy-Pelger-HuC+t anomaly syndrome ()
..expandspastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder ()
..expandtremor-ataxia-central hypomyelination syndrome ()
..expandWolfram syndrome ()
..expandWolfram-like syndrome ()
..expandX-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18705
Name:infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:ANOAC; axonal neuropathy-optic atrophy-cognitive deficit syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal