And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia

mutation in WDR81

Also Known As:

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2; CAMRQ2; Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 2

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Cerebellar Ataxia: 1529
        And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia: 4
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia: 4
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Cerebellar Diseases: 631
      - Cerebellar Ataxia: 1529
        And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia: 4
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Cerebellar Ataxia: 1529
        And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia: 4
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia: 4
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia: 4
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia: 4

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Cerebellar Ataxia (Dysmetria)
3.	Nervous System Diseases (Neurological Disorders)
4.	Microcephaly

Experts

1.	Guo, Weixiang: 2 articles (01/2021 - 01/2017)
2.	Liu, Xuezhao: 2 articles (01/2021 - 01/2017)
3.	Tang, Changyong: 2 articles (01/2021 - 01/2017)
4.	Xing, Ruxiao: 2 articles (01/2021 - 01/2017)
5.	Yang, Chonglin: 2 articles (01/2021 - 01/2017)
6.	Han, Xiu: 1 article (01/2021)
7.	Liu, Yinghao: 1 article (01/2021)
8.	Wang, Lei: 1 article (01/2021)
9.	Wang, Min: 1 article (01/2021)
10.	Gan, Qiwen: 1 article (01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Dysequilibrium Syndrome 2 Mental Retardation Cerebellar Ataxia:

Proteins (Proteins, Gene)FDA Link

01/01/2017 - "These data suggest that WDR81 coordinates p62 and LC3C to facilitate autophagic removal of Ub proteins, and provide important insights into CAMRQ2 syndrome, a WDR81-related developmental disorder."
12/23/2015 - "WDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). "
04/17/2013 - "The gene encoding the WD repeat-containing protein 81 (WDR81) has recently been described as the disease locus in a consanguineous family that suffers from cerebellar ataxia, mental retardation, and quadrupedal locomotion syndrome (CAMRQ2). "
01/01/2021 - "Mutations in the gene encoding the WD40 repeat-containing protein WDR81 are associated with neurological disorders, including cerebellar ataxia, mental retardation, quadrupedal locomotion syndrome (CAMRQ2), and microcephaly. "