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Parkinson disease, late-onset

Synonyms
Hereditary late onset Parkinson disease; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO; Parkinson disease, susceptibility to; Parkinson's disease; Susceptibility to Parkinson's Disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Gaucher Disease
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Derralynn A Hughes
Gregory M Pastores
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Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADH3, ADH1C
    Summary: alcohol dehydrogenase 1C (class I), gamma polypeptide

  • Also known as: ATX2, SCA2, TNRC13, ATXN2
    Summary: ataxin 2

  • Also known as: AT3, ATX3, JOS, MJD, MJD1, SCA3, ATXN3
    Summary: ataxin 3

  • Also known as: KLHL1AS, NCRNA00003, SCA8, ATXN8OS
    Summary: ATXN8 opposite strand lncRNA

  • Also known as: GBA, GCB, GLUC, GBA1
    Summary: glucosylceramidase beta 1

  • Also known as: DDPAC, FTD1, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau-40, MAPT
    Summary: microtubule associated protein tau

  • Also known as: HZF-3, IDLDP, NOT, NURR1, RNR1, TINUR, NR4A2
    Summary: nuclear receptor subfamily 4 group A member 2

  • Also known as: SYPH1, Sph1, SNCAIP
    Summary: synuclein alpha interacting protein

  • Also known as: GTF2D, GTF2D1, HDL4, SCA17, TBP1, TFIID, TBP
    Summary: TATA-box binding protein

  • Also known as: MTTT, TRNT
    Summary: mitochondrially encoded tRNA threonine

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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