CONDCA
MCID: NRD059
MIFTS: 24

Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy (CONDCA)

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 57 72 29 6 17
Condca 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
neurodegeneration, childhood-onset, with cerebellar atrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

OMIM® : 57 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) (Updated 05-Apr-2021)

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 Carboxypeptidase 1). Affiliated tissues include eye, tongue and skeletal muscle, and related phenotypes are spasticity and ataxia

UniProtKB/Swiss-Prot : 72 Neurodegeneration, childhood-onset, with cerebellar atrophy: An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur.

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

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

Human phenotypes related to Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 ataxia 31 very rare (1%) HP:0001251
3 microcephaly 31 very rare (1%) HP:0000252
4 dystonia 31 very rare (1%) HP:0001332
5 tongue fasciculations 31 very rare (1%) HP:0001308
6 dysplastic corpus callosum 31 very rare (1%) HP:0006989
7 failure to thrive 31 HP:0001508
8 nystagmus 31 HP:0000639
9 developmental regression 31 HP:0002376
10 global developmental delay 31 HP:0001263
11 skeletal muscle atrophy 31 HP:0003202
12 strabismus 31 HP:0000486
13 motor delay 31 HP:0001270
14 poor eye contact 31 HP:0000817
15 feeding difficulties 31 HP:0011968
16 cerebellar atrophy 31 HP:0001272
17 tetraparesis 31 HP:0002273
18 generalized hypotonia 31 HP:0001290
19 inability to walk 31 HP:0002540
20 slow saccadic eye movements 31 HP:0000514

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

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

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

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

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 (Updated 05-Apr-2021)

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

Genetic tests related to Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy:

# Genetic test Affiliating Genes
1 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 29 AGTPBP1

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

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

40
Eye, Tongue, Skeletal Muscle

Publications for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

Articles related to Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy:

# Title Authors PMID Year
1
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. 57 6
30420557 2018
2
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
3
A family of protein-deglutamylating enzymes associated with neurodegeneration. 57
21074048 2010
4
Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. 57
11884758 2002
5
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. 61
31102495 2019

Variations for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGTPBP1 NM_001286715.1(AGTPBP1):c.2492-1G>T SNV Pathogenic 522816 rs1554699491 GRCh37: 9:88211365-88211365
GRCh38: 9:85596450-85596450
2 AGTPBP1 NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs) Deletion Pathogenic 522817 rs780631499 GRCh37: 9:88203380-88203380
GRCh38: 9:85588465-85588465
3 AGTPBP1 NM_015239.2(AGTPBP1):c.2446C>T (p.Gln816Ter) SNV Pathogenic 599365 rs1564041582 GRCh37: 9:88207477-88207477
GRCh38: 9:85592562-85592562
4 AGTPBP1 NM_015239.2(AGTPBP1):c.2849A>T (p.His950Leu) SNV Pathogenic 599367 rs1564034077 GRCh37: 9:88201810-88201810
GRCh38: 9:85586895-85586895
5 AGTPBP1 NM_015239.2(AGTPBP1):c.2632C>T (p.Arg878Trp) SNV Pathogenic 599369 rs1564035967 GRCh37: 9:88203364-88203364
GRCh38: 9:85588449-85588449
6 AGTPBP1 NM_015239.2(AGTPBP1):c.1960T>G (p.Tyr654Asp) SNV Pathogenic 599370 rs1564071824 GRCh37: 9:88236136-88236136
GRCh38: 9:85621221-85621221
7 AGTPBP1 NM_001330701.2(AGTPBP1):c.1240C>T (p.Arg414Ter) SNV Pathogenic 983264 GRCh37: 9:88257804-88257804
GRCh38: 9:85642889-85642889
8 AGTPBP1 NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs) Deletion Pathogenic 984979 GRCh37: 9:88272438-88272439
GRCh38: 9:85657523-85657524
9 AGTPBP1 NM_001330701.1(AGTPBP1):c.2552C>T (p.Thr851Met) SNV Pathogenic 599366 rs760300826 GRCh37: 9:88207491-88207491
GRCh38: 9:85592576-85592576
10 AGTPBP1 NM_015239.2(AGTPBP1):c.2242C>T (p.Gln748Ter) SNV Pathogenic 599368 rs1564046794 GRCh37: 9:88211338-88211338
GRCh38: 9:85596423-85596423
11 AGTPBP1 NM_001330701.2(AGTPBP1):c.1606C>T (p.Arg536Ter) SNV Likely pathogenic 1029296 GRCh37: 9:88247986-88247986
GRCh38: 9:85633071-85633071
12 AGTPBP1 NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu) SNV Likely pathogenic 983265 GRCh37: 9:88211304-88211304
GRCh38: 9:85596389-85596389
13 AGTPBP1 NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln) SNV Uncertain significance 1029297 GRCh37: 9:88203273-88203273
GRCh38: 9:85588358-85588358
14 AGTPBP1 NM_001330701.2(AGTPBP1):c.437-3C>A SNV Uncertain significance 1029298 GRCh37: 9:88287599-88287599
GRCh38: 9:85672684-85672684

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy:

72
# Symbol AA change Variation ID SNP ID
1 AGTPBP1 p.Tyr694Asp VAR_081909 rs156407182
2 AGTPBP1 p.Thr851Met VAR_081912 rs760300826
3 AGTPBP1 p.Arg918Trp VAR_081915 rs156403596
4 AGTPBP1 p.His990Leu VAR_081916 rs156403407

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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