TBP gene related symptoms and diseases

All the information presented here about the TBP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to TBP gene

Symptoms // Phenotype	% Cases
Ataxia	Very Common - Between 80% and 100% cases
Dystonia	Very Common - Between 80% and 100% cases
Rigidity	Very Common - Between 80% and 100% cases
Parkinsonism	Very Common - Between 80% and 100% cases
Neuronal loss in central nervous system	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TBP gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Cognitive impairment
Personality changes
Hallucinations
Spasticity
Dementia
Depressivity
Dysphagia
Tremor

And 70 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TBP gene

Here you will find a list of rare diseases related to the TBP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

SPINOCEREBELLAR ATAXIA TYPE 17

Alternate names

SPINOCEREBELLAR ATAXIA TYPE 17 Is also known as hdl4, sca17, huntington disease-like 4

Description

Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 17

Ataxia
Spasticity
Gait disturbance
Cerebellar atrophy
Behavioral abnormality

More info about SPINOCEREBELLAR ATAXIA TYPE 17

SOURCES: ORPHANET

SPINOCEREBELLAR ATAXIA 17; SCA17

Alternate names

SPINOCEREBELLAR ATAXIA 17; SCA17 Is also known as hdl4, huntington disease-like 4

Description

SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD ). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)).For a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (OMIM ).

Most common symptoms of SPINOCEREBELLAR ATAXIA 17; SCA17

Intellectual disability
Seizures
Ataxia
Spasticity
Cognitive impairment

More info about SPINOCEREBELLAR ATAXIA 17; SCA17

SOURCES: OMIM

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Description

Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

Ataxia
Cognitive impairment
Dysarthria
Tremor
Dysphagia

More info about PARKINSON DISEASE, LATE-ONSET; PD

SOURCES: OMIM

Search interest in TBP

Potential gene panels for TBP gene

SCA17 (TBP) Repeat Expansion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the TBP gene.

TBP gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TBP gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to TBP gene

SPINOCEREBELLAR ATAXIA TYPE 17

Alternate names

Description

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 17

SPINOCEREBELLAR ATAXIA 17; SCA17

Alternate names

Description

Most common symptoms of SPINOCEREBELLAR ATAXIA 17; SCA17

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

Description

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

Search interest in TBP

Potential gene panels for TBP gene

SCA17 (TBP) Repeat Expansion Test Panel

Ataxia, Common Repeat Expansion Evaluation Panel

Ataxia, Comprehensive Evaluation Panel

Ataxia, Complete Dominant Evaluation Panel

Spinocerebellar ataxia 17 Panel

Spinocerebellar ataxia type 17 Panel

Ataxia Repeat Expansion Panel Panel

Spinocerebellar ataxia 17 Panel

Spinocerebellar Ataxia Type 17 Panel

TATA box binding protein (TBP) gene CAG/CAA repeat test Panel

Spinocerebellar Ataxia 17 Panel

TBP. CAG expansion detection by PCR Panel

Spinocerebellar ataxia 17 (SCA17, CAG expansion on TBP gene) Panel

Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP) Panel

Spinocerebellar Ataxia Type 17 via the TBP CAG/CAA Repeat Expansion Panel

Spinocerebellar Ataxia Type17 Panel

Ataxia (AD/AR) panel Panel

Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) Panel

Hereditary Degenerative Syndromes Panel Panel

Choreatic Movement Disorders Panel Panel

Ataxia and differential diagnoses Panel Panel

Alzheimer's disease Panel Panel

Dementia all Panel Panel

Ataxia, autosomal dominant and X-linked Panel Panel

Single gene testing TBP Panel

Test for Spinocerebellar Ataxia Type17 Panel

Spinocerebellar Ataxia Type17 Panel

SCA17 Panel

Spinocerebellar Ataxia 17 Panel

Spinocerebellar ataxia: Panel SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10 and SCA17 Panel

Spinocerebellar ataxia type 17 (SCA17): CAA / CAG expansion analysis Panel

Spinocerebellar ataxia Panel

TBP Panel

Spinocerebellar ataxia type 17 Panel

Exome Panel

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel

Spinocerebellar ataxia panel Panel

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Tempus xO assay Panel