ADH1C gene related symptoms and diseases

All the information presented here about the ADH1C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADH1C gene

Symptoms // Phenotype % Cases
Depressivity Very Common - Between 80% and 100% cases
Ataxia Uncommon - Between 30% and 50% cases
Micrographia Uncommon - Between 30% and 50% cases
Orthostatic hypotension Uncommon - Between 30% and 50% cases
Frontotemporal dementia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ADH1C gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Lewy bodies
  • Kinetic tremor
  • Weak voice
  • Substantia nigra gliosis
  • Short stepped shuffling gait
  • Seizures
  • Urinary urgency
  • Behavioral abnormality

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADH1C gene

Here you will find a list of rare diseases related to the ADH1C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

ALCOHOL DEPENDENCE


Alternate names

ALCOHOL DEPENDENCE Is also known as alcoholism

Description

a disorder characterized by a pathological pattern of alcohol use that causes a serious impairment in social or occupational functioning.

Most common symptoms of ALCOHOL DEPENDENCE

  • Seizures
  • Behavioral abnormality
  • Depressivity
  • Hyperactivity
  • Abnormality of the nervous system


More info about ALCOHOL DEPENDENCE

SOURCES: OMIM


Potential gene panels for ADH1C gene

Parkinson disease (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

ADH1C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADH1C gene.

More info about this panel


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