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:- 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
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (38 available)
Genes See tests for all associated and related genes
Also known as: ADH3, ADH1C
Summary: alcohol dehydrogenase 1C (class I), gamma polypeptideAlso known as: ATX2, SCA2, TNRC13, ATXN2
Summary: ataxin 2Also known as: AT3, ATX3, JOS, MJD, MJD1, SCA3, ATXN3
Summary: ataxin 3Also known as: KLHL1AS, NCRNA00003, SCA8, ATXN8OS
Summary: ATXN8 opposite strand lncRNAAlso known as: GBA, GCB, GLUC, GBA1
Summary: glucosylceramidase beta 1Also known as: DDPAC, FTD1, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau-40, MAPT
Summary: microtubule associated protein tauAlso known as: HZF-3, IDLDP, NOT, NURR1, RNR1, TINUR, NR4A2
Summary: nuclear receptor subfamily 4 group A member 2Also known as: SYPH1, Sph1, SNCAIP
Summary: synuclein alpha interacting proteinAlso known as: GTF2D, GTF2D1, HDL4, SCA17, TBP1, TFIID, TBP
Summary: TATA-box binding proteinAlso known as: MTTT, TRNT
Summary: mitochondrially encoded tRNA threonine
Clinical features
Help- Abnormality of head or neck
- Mask-like facies
Mask-like facies
- MedGen UID: 140860
- Concept ID: C0424448
- Finding: Finding
Abnormality of head or neck
- Mask-like facies
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
- Abnormality of the genitourinary system
- Urinary urgency
Urinary urgency
- MedGen UID: 39315
- Concept ID: C0085606
- Finding: Finding
Abnormality of the genitourinary system
- Urinary urgency
- Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Rigidity
- Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
Abnormal autonomic nervous system physiology
- MedGen UID: 8511
- Concept ID: C0013363
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Bradykinesia
Bradykinesia
- MedGen UID: 115925
- Concept ID: C0233565
- Finding: Sign or Symptom
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hallucinations
Hallucinations
- MedGen UID: 6709
- Concept ID: C0018524
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Lewy bodies
Lewy bodies
- MedGen UID: 43126
- Concept ID: C0085200
- Finding: Cell Component
Abnormality of the nervous system
- Micrographia
Micrographia
- MedGen UID: 66806
- Concept ID: C0240341
- Finding: Finding
Abnormality of the nervous system
- Neuronal loss in central nervous system
Neuronal loss in central nervous system
- MedGen UID: 342515
- Concept ID: C1850496
- Finding: Finding
Abnormality of the nervous system
- Parkinsonian disorder
Parkinsonian disorder
- MedGen UID: 66079
- Concept ID: C0242422
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Personality changes
Personality changes
- MedGen UID: 66817
- Concept ID: C0240735
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Postural instability
Postural instability
- MedGen UID: 334529
- Concept ID: C1843921
- Finding: Finding
Abnormality of the nervous system
- Resting tremor
Resting tremor
- MedGen UID: 66697
- Concept ID: C0234379
- Finding: Sign or Symptom
Abnormality of the nervous system
- Short stepped shuffling gait
Short stepped shuffling gait
- MedGen UID: 812045
- Concept ID: C3805715
- Finding: Finding
Abnormality of the nervous system
- Sleep abnormality
Sleep abnormality
- MedGen UID: 52372
- Concept ID: C0037317
- Finding: Finding
Abnormality of the nervous system
- Substantia nigra gliosis
Substantia nigra gliosis
- MedGen UID: 337668
- Concept ID: C1846865
- Finding: Finding
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
- Abnormality of the voice
- Weak voice
Weak voice
- MedGen UID: 66033
- Concept ID: C0241700
- Finding: Finding
Abnormality of the voice
- Weak voice
- OMIM
- View ADH1C variations in ClinVar
- View GBA1 variations in ClinVar
- View MAPT variations in ClinVar
- View ATXN3 variations in ClinVar
- View MT-TT variations in ClinVar
- View NR4A2 variations in ClinVar
- View ATXN2 variations in ClinVar
- View ATXN8OS variations in ClinVar
- View TBP variations in ClinVar
- View SNCAIP variations in ClinVar
- RefSeqGene
- Coriell Institute for Medical Research
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