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Ontology Browser
Term:
COASY protein-associated neurodegeneration (EFO:Orphanet:397725)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
achondrogenesis type IB 
acquired mineral metabolism disease 
Alpers syndrome 
atelosteogenesis type II 
Autosomal dominant spastic paraplegia type 10 
Autosomal dominant spastic paraplegia type 12 
Autosomal dominant spastic paraplegia type 13 
Autosomal dominant spastic paraplegia type 17 
Autosomal dominant spastic paraplegia type 19 
Autosomal dominant spastic paraplegia type 29 
Autosomal dominant spastic paraplegia type 3 
Autosomal dominant spastic paraplegia type 31 
Autosomal dominant spastic paraplegia type 36 
Autosomal dominant spastic paraplegia type 37 
Autosomal dominant spastic paraplegia type 38 
Autosomal dominant spastic paraplegia type 4 
Autosomal dominant spastic paraplegia type 41 
Autosomal dominant spastic paraplegia type 42 
Autosomal dominant spastic paraplegia type 6 
Autosomal dominant spastic paraplegia type 8 
Autosomal recessive spastic paraplegia type 11 
Autosomal recessive spastic paraplegia type 14 
Autosomal recessive spastic paraplegia type 15 
Autosomal recessive spastic paraplegia type 18 
Autosomal recessive spastic paraplegia type 23 
Autosomal recessive spastic paraplegia type 24 
Autosomal recessive spastic paraplegia type 25 
Autosomal recessive spastic paraplegia type 26 
Autosomal recessive spastic paraplegia type 27 
Autosomal recessive spastic paraplegia type 28 
Autosomal recessive spastic paraplegia type 30 
Autosomal recessive spastic paraplegia type 32 
Autosomal recessive spastic paraplegia type 35 
Autosomal recessive spastic paraplegia type 39 
Autosomal recessive spastic paraplegia type 43 
Autosomal recessive spastic paraplegia type 44 
Autosomal recessive spastic paraplegia type 45 
Autosomal recessive spastic paraplegia type 46 
Autosomal recessive spastic paraplegia type 48 
Autosomal recessive spastic paraplegia type 49 
Autosomal recessive spastic paraplegia type 53 
Autosomal recessive spastic paraplegia type 54 
Autosomal recessive spastic paraplegia type 55 
Autosomal recessive spastic paraplegia type 56 
Autosomal recessive spastic paraplegia type 5A 
Autosomal recessive spastic paraplegia type 61 
Autosomal recessive spastic paraplegia type 62 
Autosomal recessive spastic paraplegia type 63 
Autosomal recessive spastic paraplegia type 64 
Autosomal recessive spastic paraplegia type 7 
Autosomal recessive spastic paraplegia type 72 
calcium metabolic disease +   
chondrodysplasia with joint dislocations, gPAPP type 
Choreoacanthocytosis 
Chédiak-Higashi syndrome 
CLN1 disease 
CLN11 disease 
CLN13 disease 
CLN2 disease 
CLN3 disease 
CLN4A disease 
CLN4B disease 
CLN5 disease 
CLN6 disease 
CLN7 disease 
CLN8 disease 
CLN9 disease 
COASY protein-associated neurodegeneration 
Congenital neuronal ceroid lipofuscinosis +  
diastrophic dysplasia 
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity 
Fatal multiple mitochondrial dysfunction syndrome +  
Frontotemporal neurodegeneration with movement disorder +  
Genetic neurodegenerative disease with dementia +  
iron metabolism disease +   
Macrocephaly - spastic paraplegia - dysmorphism 
Microphthalmia - brain atrophy 
Mohr-Tranebjaerg syndrome 
multiple epiphyseal dysplasia type 4 
neuronal ceroid-lipofuscinosis, dominant/recessive 
phosphorus metabolism disease +   
potassium deficiency disease +   
Primary lateral sclerosis 
Progressive epilepsy - intellectual disability, Finnish type 
Severe intellectual disability and progressive spastic paraplegia 
Spastic paraplegia - epilepsy - intellectual disability 
Spastic paraplegia - facial-cutaneous lesions 
Spastic paraplegia - glaucoma - intellectual disability 
Spastic paraplegia - nephritis - deafness 
Spastic paraplegia - neuropathy - poikiloderma 
Spastic paraplegia - Paget disease of bone 
Spastic paraplegia - precocious puberty 
spastic paraplegia 84, autosomal recessive 
Spastic paraplegia type 2 
Spastic paraplegia-optic atrophy-neuropathy syndrome +  
spondyloepimetaphyseal dysplasia, PAPSS2 type 
spondyloepiphyseal dysplasia with congenital joint dislocations 
sulfur metabolism disease +  
X-linked adrenoleukodystrophy 
X-linked spastic paraplegia type 16 
X-linked spastic paraplegia type 34 

Synonyms
Exact Synonyms: CoPAN ;   NBIA6 ;   Neurodegeneration with brain iron accumulation due to COASY mutation
Xrefs: ICD10:G23.0 ;   MIM:615643
External Ontologys: has_disease_location EFO:UBERON:0000955

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