Coasy Protein-associated Neurodegeneration

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Coasy Protein-associated Neurodegeneration

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Behavioral abnormality
  • Dystonia
  • Depressivity
  • Areflexia
  • Hyporeflexia

And another 28 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Coasy Protein-associated Neurodegeneration Is also known as copan, neurodegeneration with brain iron accumulation due to coasy mutation, nbia6.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Coasy Protein-associated Neurodegeneration Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
NBIA Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago (United States).

PANK2, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
10 %
Genes
100 %
NBIA Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

PANK2, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
10 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes).

By CGC Genetics (Portugal).

PANK2, FA2H, C19orf12, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
13 %
Genes
100 %
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes).

By CGC Genetics (Portugal).

PANK2, FA2H, C19orf12, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
13 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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