Perry Syndrome

Description

Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.

Clinical Features

Top most frequent phenotypes and symptoms related to Perry Syndrome

  • Dysarthria
  • Tremor
  • Respiratory insufficiency
  • Behavioral abnormality
  • Abnormality of metabolism/homeostasis
  • Depressivity
  • Dementia
  • Respiratory failure
  • Weight loss
  • Rigidity

And another 25 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Perry Syndrome Is also known as parkinsonism with alveolar hypoventilation and mental depression.

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.

Perry Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

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

ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Charcot-Marie-Tooth Syndrome.

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

SPTLC1, YARS, PRX, BSCL2, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, DCTN1, MED25, SH3TC2, DYNC1H1, DNM2, HSPB8 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Dementia.

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

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Movement Disorders Panel.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Parkinson's Disease.

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

SLC6A3, SNCA, TAF1, TH, VPS35, FBXO7, PINK1, PARK7, LRRK2, CSF1R, DCTN1, ATP13A2, GBA, GCH1, MAPT, ATP1A3, PRKN, PLA2G6, POLG
Specificity
6 %
Genes
100 %

You can get up to 59 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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