COASY protein-associated neurodegeneration

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 30089828
 Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.
Eur J Hum Genet. 2018;26(12):1752-1758.
Microcephaly
COASY
c|DEL|1549_1550|AG c|SUB|C|1486-3|G;RS#:577714887 p|FS|A|496|I|20
Arthrogryposis Cerebellar Diseases Cultured Cells Homo sapiens Infant, Newborn Loss of Function Mutation Male Microcephaly Syndrome Transferase
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000722 Obsessive-compulsive behavior Very frequent (99-80%)
HP:0001260 Dysarthria Very frequent (99-80%)
HP:0001300 Parkinsonism Very frequent (99-80%)
HP:0002313 Spastic paraparesis Very frequent (99-80%)
HP:0002339 Abnormal caudate nucleus morphology Very frequent (99-80%)
HP:0002355 Difficulty walking Very frequent (99-80%)
HP:0002453 Abnormal globus pallidus morphology Very frequent (99-80%)
HP:0002454 Eye of the tiger anomaly of globus pallidus Very frequent (99-80%)
HP:0003477 Peripheral axonal neuropathy Very frequent (99-80%)
HP:0010663 Abnormality of thalamus morphology Very frequent (99-80%)
HP:0010994 Abnormal corpus striatum morphology Very frequent (99-80%)
HP:0012048 Oromandibular dystonia Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002180 Neurodegeneration 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COASY Coenzyme A synthase 80347