CIAT
MCID: CGN005
MIFTS: 30

Cognitive Impairment with or Without Cerebellar Ataxia (CIAT)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cognitive Impairment with or Without Cerebellar Ataxia

MalaCards integrated aliases for Cognitive Impairment with or Without Cerebellar Ataxia:

Name: Cognitive Impairment with or Without Cerebellar Ataxia 57 75 29 13 6 40 73
Ciat 57 75
Neurobehavioral Manifestations 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia


HPO:

32
cognitive impairment with or without cerebellar ataxia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cognitive Impairment with or Without Cerebellar Ataxia

UniProtKB/Swiss-Prot : 75 Cognitive impairment with or without cerebellar ataxia: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.

MalaCards based summary : Cognitive Impairment with or Without Cerebellar Ataxia, also known as ciat, is related to aphasia and alzheimer disease. An important gene associated with Cognitive Impairment with or Without Cerebellar Ataxia is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include brain and testes, and related phenotypes are emotional lability and intellectual disability

Description from OMIM: 614306

Related Diseases for Cognitive Impairment with or Without Cerebellar Ataxia

Diseases related to Cognitive Impairment with or Without Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aphasia 10.2
2 alzheimer disease 9.7
3 binswanger's disease 9.7

Symptoms & Phenotypes for Cognitive Impairment with or Without Cerebellar Ataxia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
gaze-evoked nystagmus (1 patient)
amblyopia (1 patient)
optic nerve hypoplasia (1 patient)
esophoria (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder (3 patients)
emotional lability (2 patients)

Neurologic Central Nervous System:
mental retardation (1 patient)
cognitive impairment (3 patients)
ataxia (1 patient)
dysmetria (1 patient)
dysarthria (1 patient)
more

Clinical features from OMIM:

614306

Human phenotypes related to Cognitive Impairment with or Without Cerebellar Ataxia:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 emotional lability 32 occasional (7.5%) HP:0000712
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 dysarthria 32 occasional (7.5%) HP:0001260
4 cognitive impairment 32 HP:0100543
5 attention deficit hyperactivity disorder 32 HP:0007018
6 dysmetria 32 occasional (7.5%) HP:0001310
7 optic nerve hypoplasia 32 occasional (7.5%) HP:0000609
8 amblyopia 32 occasional (7.5%) HP:0000646
9 gaze-evoked nystagmus 32 occasional (7.5%) HP:0000640
10 esophoria 32 occasional (7.5%) HP:0025312

Drugs & Therapeutics for Cognitive Impairment with or Without Cerebellar Ataxia

Search Clinical Trials , NIH Clinical Center for Cognitive Impairment with or Without Cerebellar Ataxia

Cochrane evidence based reviews: neurobehavioral manifestations

Genetic Tests for Cognitive Impairment with or Without Cerebellar Ataxia

Genetic tests related to Cognitive Impairment with or Without Cerebellar Ataxia:

# Genetic test Affiliating Genes
1 Cognitive Impairment with or Without Cerebellar Ataxia 29 SCN8A

Anatomical Context for Cognitive Impairment with or Without Cerebellar Ataxia

MalaCards organs/tissues related to Cognitive Impairment with or Without Cerebellar Ataxia:

41
Brain, Testes

Publications for Cognitive Impairment with or Without Cerebellar Ataxia

Articles related to Cognitive Impairment with or Without Cerebellar Ataxia:

(show all 15)
# Title Authors Year
1
Dissecting the Acid Stress Response of Rhizobium tropici CIAT 899. ( 29760688 )
2018
2
Revealing the roles of y4wF and tidC genes in Rhizobium tropici CIAT 899: biosynthesis of indolic compounds and impact on symbiotic properties. ( 30535938 )
2018
3
Indole-3-acetic acid production via the indole-3-pyruvate pathway by plant growth promoter Rhizobium tropici CIAT 899 is strongly inhibited by ammonium. ( 27845247 )
2017
4
The Rhizobium tropici CIAT 899 NodD2 protein regulates the production of Nod factors under salt stress in a flavonoid-independent manner. ( 28488698 )
2017
5
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. ( 27287737 )
2016
6
RNA-seq analysis of the Rhizobium tropici CIAT 899 transcriptome shows similarities in the activation patterns of symbiotic genes in the presence of apigenin and salt. ( 26951045 )
2016
7
NrcR, a New Transcriptional Regulator of Rhizobium tropici CIAT 899 Involved in the Legume Root-Nodule Symbiosis. ( 27096734 )
2016
8
Regulatory nodD1 and nodD2 genes of Rhizobium tropici strain CIAT 899 and their roles in the early stages of molecular signaling and host-legume nodulation. ( 25880529 )
2015
9
Opening the "black box" of nodD3, nodD4 and nodD5 genes of Rhizobium tropici strain CIAT 899. ( 26502986 )
2015
10
Genomic basis of broad host range and environmental adaptability of Rhizobium tropici CIAT 899 and Rhizobium sp. PRF 81 which are used in inoculants for common bean (Phaseolus vulgaris L.). ( 23270491 )
2012
11
CIAT with simultaneous epimerization at two stereocenters. Synthesis of substituted beta-methyl-alpha-homophenylalanines. ( 17164915 )
2007
12
Utility of the ceftazidime-imipenem antagonism test (CIAT) to detect and confirm the presence of inducible AmpC beta-lactamases among enterobacteriaceae. ( 17625769 )
2007
13
Extending the Constraint-Induced Movement Therapy (CIMT) approach to cognitive functions: Constraint-Induced Aphasia Therapy (CIAT) of chronic aphasia. ( 17971622 )
2007
14
White matter changes: neurobehavioral manifestations of Binswanger's disease and clinical correlates in Alzheimer's disease. ( 8087170 )
1994
15
Structure of the extracellular polysaccharide secreted by Rhizobium leguminosarum var. phaseoli CIAT 899. ( 2279241 )
1990

Variations for Cognitive Impairment with or Without Cerebellar Ataxia

ClinVar genetic disease variations for Cognitive Impairment with or Without Cerebellar Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN8A NM_014191.3(SCN8A): c.5156_5157delCT (p.Pro1719Argfs) deletion Pathogenic rs587776703 GRCh38 Chromosome 12, 51806642: 51806643
2 SCN8A NM_014191.3(SCN8A): c.5156_5157delCT (p.Pro1719Argfs) deletion Pathogenic rs587776703 GRCh37 Chromosome 12, 52200426: 52200427
3 SCN8A NM_014191.3(SCN8A): c.618T> A (p.Tyr206Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 51688761: 51688761
4 SCN8A NM_014191.3(SCN8A): c.618T> A (p.Tyr206Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 52082545: 52082545

Expression for Cognitive Impairment with or Without Cerebellar Ataxia

Search GEO for disease gene expression data for Cognitive Impairment with or Without Cerebellar Ataxia.

Pathways for Cognitive Impairment with or Without Cerebellar Ataxia

GO Terms for Cognitive Impairment with or Without Cerebellar Ataxia

Sources for Cognitive Impairment with or Without Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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