MCID: NRD059
MIFTS: 13

Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

MalaCards integrated aliases for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy:

Name: Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 58 6
Condca 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
death in childhood may occur
onset in first months of life


Classifications:



External Ids:

OMIM 58 618276

Summaries for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

OMIM : 58 Childhood-onset neurodegeneration with cerebellar atrophy is a severe autosomal recessive neurodevelopmental disorder affecting the central and peripheral nervous system. Patients present in the first year of life with global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. The severity is variable, but death in childhood may occur (summary by Shashi et al., 2018). (618276)

MalaCards based summary : Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy, is also known as condca. An important gene associated with Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy is AGTPBP1 (ATP/GTP Binding Protein 1). Affiliated tissues include brain, eye and tongue.

Related Diseases for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Symptoms & Phenotypes for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
poor eye contact
slow saccades
abnormal eye movements

Neurologic Central Nervous System:
developmental regression
global developmental delay
inability to walk
cerebellar atrophy
spasticity (in some patients)
more
Muscle Soft Tissue:
tetraparesis
hypotonia
muscle atrophy

Head And Neck Head:
microcephaly, mild (in some patients)

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Peripheral Nervous System:
axonal motor neuropathy (in some patients)

Head And Neck Mouth:
tongue fasciculations (in some patients)

Clinical features from OMIM:

618276

Drugs & Therapeutics for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Search Clinical Trials , NIH Clinical Center for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Genetic Tests for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Anatomical Context for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

MalaCards organs/tissues related to Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy:

42
Brain, Eye, Tongue

Publications for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Variations for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

ClinVar genetic disease variations for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGTPBP1 NM_001286715.1(AGTPBP1): c.2892del (p.Tyr964Terfs) deletion Pathogenic rs780631499 GRCh38 Chromosome 9, 85588465: 85588465
2 AGTPBP1 NM_001286715.1(AGTPBP1): c.2892del (p.Tyr964Terfs) deletion Pathogenic rs780631499 GRCh37 Chromosome 9, 88203380: 88203380
3 AGTPBP1 NM_001286715.1(AGTPBP1): c.2492-1G> T single nucleotide variant Pathogenic rs1554699491 GRCh38 Chromosome 9, 85596450: 85596450
4 AGTPBP1 NM_001286715.1(AGTPBP1): c.2492-1G> T single nucleotide variant Pathogenic rs1554699491 GRCh37 Chromosome 9, 88211365: 88211365
5 AGTPBP1 NM_001330701.1(AGTPBP1): c.2566C> T (p.Gln856Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 85592562: 85592562
6 AGTPBP1 NM_001330701.1(AGTPBP1): c.2566C> T (p.Gln856Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 88207477: 88207477
7 AGTPBP1 NM_001330701.1(AGTPBP1): c.2552C> T (p.Thr851Met) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 85592576: 85592576
8 AGTPBP1 NM_001330701.1(AGTPBP1): c.2552C> T (p.Thr851Met) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 88207491: 88207491
9 AGTPBP1 NM_001330701.1(AGTPBP1): c.2969A> T (p.His990Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 88201810: 88201810
10 AGTPBP1 NM_001330701.1(AGTPBP1): c.2969A> T (p.His990Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 85586895: 85586895
11 AGTPBP1 NM_001330701.1(AGTPBP1): c.2362C> T (p.Gln788Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 85596423: 85596423
12 AGTPBP1 NM_001330701.1(AGTPBP1): c.2362C> T (p.Gln788Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 88211338: 88211338
13 AGTPBP1 NM_001330701.1(AGTPBP1): c.2752C> T (p.Arg918Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 88203364: 88203364
14 AGTPBP1 NM_001330701.1(AGTPBP1): c.2752C> T (p.Arg918Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 85588449: 85588449
15 AGTPBP1 NM_001330701.1(AGTPBP1): c.2080T> G (p.Tyr694Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 88236136: 88236136
16 AGTPBP1 NM_001330701.1(AGTPBP1): c.2080T> G (p.Tyr694Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 85621221: 85621221

Expression for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Search GEO for disease gene expression data for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy.

Pathways for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

GO Terms for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Sources for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

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