CONDBA
MCID: NRD030
MIFTS: 26

Neurodegeneration, Childhood-Onset, with Brain Atrophy (CONDBA)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

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

Name: Neurodegeneration, Childhood-Onset, with Brain Atrophy 57 72
Childhood-Onset Motor and Cognitive Regression Syndrome with Extrapyramidal Movement Disorder 20 58 29 6
Condba 57 20 72
Childhood-Onset Neurodegeneration with Brain Atrophy 20 36

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
normal or mildly delayed early development
onset of progressive neurodegeneration between 2 and 7 years
regression can begin in motor or cognitive domains
patients become severely disabled with inability to walk or speak
de novo mutation, recurrent


HPO:

31
neurodegeneration, childhood-onset, with brain atrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Neurodegeneration, Childhood-Onset, with Brain Atrophy

OMIM® : 57 CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017). (617672) (Updated 20-May-2021)

MalaCards based summary : Neurodegeneration, Childhood-Onset, with Brain Atrophy, also known as childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, is related to rare syndromic intellectual disability. An important gene associated with Neurodegeneration, Childhood-Onset, with Brain Atrophy is UBTF (Upstream Binding Transcription Factor). Affiliated tissues include brain, and related phenotypes are abnormal pyramidal sign and dysarthria

KEGG : 36 Childhood-onset neurodegeneration with brain atrophy (CONDBA) is an autosomal dominant disorder characterized by developmental regression and neurodegeneration in childhood. It has been reported that mutations in UBTF cause this disease. UBTF is a Pol I transcription factor and is instrumental in the generation of rRNA transcripts.

UniProtKB/Swiss-Prot : 72 Neurodegeneration, childhood-onset, with brain atrophy: An autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability.

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

Diseases related to Neurodegeneration, Childhood-Onset, with Brain Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rare syndromic intellectual disability 9.5 UBTF ATXN7L3-AS1

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

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

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 very rare (1%) Very frequent (99-80%) HP:0007256
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
4 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
5 abnormality of extrapyramidal motor function 58 31 hallmark (90%) Very frequent (99-80%) HP:0002071
6 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
7 hyperintensity of cerebral white matter on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0030890
8 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
9 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
10 dysphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002357
11 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
12 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
13 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
14 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
15 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
16 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
17 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
18 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
19 seizure 31 very rare (1%) HP:0001250
20 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
21 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
22 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
23 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
24 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
25 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
26 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
27 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
28 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
29 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
30 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
31 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
32 limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002509
33 ataxia 31 very rare (1%) HP:0001251
34 seizures 58 Frequent (79-30%)
35 behavioral abnormality 58 Very frequent (99-80%)
36 cerebral cortical atrophy 31 HP:0002120
37 mental deterioration 31 HP:0001268
38 decreased body weight 31 HP:0004325
39 feeding difficulties 31 HP:0011968
40 cerebellar atrophy 31 HP:0001272
41 rigidity 31 HP:0002063
42 parkinsonism 31 HP:0001300
43 peripheral demyelination 31 HP:0011096
44 axonal loss 31 HP:0003447
45 neurodegeneration 31 HP:0002180

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
chorea
dystonia
cerebellar atrophy
rigidity
more
Growth Weight:
low weight

Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Head And Neck Head:
decreased head circumference, postnatal, progressive

Clinical features from OMIM®:

617672 (Updated 20-May-2021)

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

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

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

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

# Genetic test Affiliating Genes
1 Childhood-Onset Motor and Cognitive Regression Syndrome with Extrapyramidal Movement Disorder 29 UBTF

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

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

40
Brain

Publications for Neurodegeneration, Childhood-Onset, with Brain Atrophy

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

# Title Authors PMID Year
1
A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 57 6
29300972 2018
2
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 6 57
28777933 2017
3
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood. 6
30517966 2019
4
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. 6
28191890 2017

Variations for Neurodegeneration, Childhood-Onset, with Brain Atrophy

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATXN7L3-AS1 , UBTF NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) SNV Pathogenic/Likely pathogenic 437909 rs1555582065 GRCh37: 17:42290219-42290219
GRCh38: 17:44212851-44212851
2 ATXN7L3-AS1 , UBTF NM_014233.4(UBTF):c.2213A>G (p.Asp738Gly) SNV Uncertain significance 932034 GRCh37: 17:42284692-42284692
GRCh38: 17:44207324-44207324
3 ATXN7L3-AS1 , UBTF NM_014233.4(UBTF):c.1871A>G (p.Lys624Arg) SNV Uncertain significance 982747 GRCh37: 17:42286754-42286754
GRCh38: 17:44209386-44209386

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

72
# Symbol AA change Variation ID SNP ID
1 UBTF p.Glu210Lys VAR_080139 rs155558206

Expression for Neurodegeneration, Childhood-Onset, with Brain Atrophy

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

Pathways for Neurodegeneration, Childhood-Onset, with Brain Atrophy

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

Sources for Neurodegeneration, Childhood-Onset, with Brain 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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