CONATOC
MCID: NRD097
MIFTS: 16

Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline (CONATOC)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

MalaCards integrated aliases for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline:

Name: Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 56 6
Conatoc 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade
three unrelated families have been reported (last curated april 2020)


Classifications:



External Ids:

OMIM 56 618868

Summaries for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

OMIM : 56 Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is an autosomal recessive progressive disorder with onset of symptoms in the first decade. Brain imaging may show variable features, including leukoencephalopathy and cerebellar atrophy (summary by Fagerberg et al., 2020). (618868)

MalaCards based summary : Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline, is also known as conatoc. An important gene associated with Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline is SLC44A1 (Solute Carrier Family 44 Member 1). Affiliated tissues include brain, globus pallidus and liver.

Related Diseases for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

Symptoms & Phenotypes for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
strabismus
slow saccades

Abdomen Gastrointestinal:
dysphagia
bowel incontinence
drooling

Genitourinary Bladder:
urinary incontinence

Metabolic Features:
hypoglycemia, neonatal (in some patients)

Head And Neck Face:
facial dyskinesia

Muscle Soft Tissue:
muscle weakness

Neurologic Central Nervous System:
ataxia
tremor
dysarthria
cerebellar atrophy
leukoencephalopathy
more
Skin Nails Hair Skin:
jaundice, neonatal

Head And Neck Head:
macrocephaly (in some patients)
large head circumference

Abdomen Liver:
neonatal liver dysfunction (in some patients)

Clinical features from OMIM:

618868

Drugs & Therapeutics for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

Search Clinical Trials , NIH Clinical Center for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline

Genetic Tests for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

Anatomical Context for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

MalaCards organs/tissues related to Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline:

40
Brain, Globus Pallidus, Liver

Publications for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

Articles related to Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline:

# Title Authors PMID Year
1
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. 6 56
31855247 2020
2
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 56 6
28097321 2017

Variations for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

ClinVar genetic disease variations for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC44A1 NM_080546.5(SLC44A1):c.1549del (p.Asp517fs)deletion Pathogenic 870502 9:108136932-108136932 9:105374651-105374651
2 SLC44A1 NM_080546.5(SLC44A1):c.377_380del (p.Ser126fs)deletion Pathogenic 870503 9:108097948-108097951 9:105335667-105335670
3 SLC44A1 NM_080546.5:c.126+5161_270-2343deldeletion Pathogenic 870504

Expression for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

Search GEO for disease gene expression data for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline.

Pathways for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

GO Terms for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

Sources for Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic...

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