CONDBA
MCID: NRD030
MIFTS: 21

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 58 76 6
Condba 58 54 76
Childhood-Onset Motor and Cognitive Regression Syndrome with Extrapyramidal Movement Disorder 54 60
Childhood-Onset Neurodegeneration with Brain Atrophy 54

Characteristics:

OMIM:

58
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


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neurodegeneration, Childhood-Onset, with Brain Atrophy

OMIM : 58 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)

MalaCards based summary : Neurodegeneration, Childhood-Onset, with Brain Atrophy, is also known as condba. 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 seizures and ataxia

UniProtKB/Swiss-Prot : 76 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

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

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

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 ataxia 33 very rare (1%) HP:0001251
3 abnormal pyramidal sign 33 very rare (1%) HP:0007256
4 global developmental delay 33 very rare (1%) HP:0001263
5 spasticity 33 HP:0001257
6 dysphagia 33 HP:0002015
7 chorea 33 HP:0002072
8 developmental regression 33 HP:0002376
9 feeding difficulties 33 HP:0011968
10 dystonia 33 HP:0001332
11 cerebral cortical atrophy 33 HP:0002120
12 rigidity 33 HP:0002063
13 neurodegeneration 33 HP:0002180
14 mental deterioration 33 HP:0001268
15 intellectual disability, profound 33 HP:0002187
16 cerebellar atrophy 33 HP:0001272
17 hypoplasia of the corpus callosum 33 HP:0002079
18 peripheral demyelination 33 HP:0011096
19 parkinsonism 33 HP:0001300
20 axonal loss 33 HP:0003447

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
chorea
dystonia
rigidity
neurodegeneration
more
Growth Weight:
low weight

Abdomen Gastrointestinal:
dysphagia
feeding difficulties

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

Clinical features from OMIM:

617672

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

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

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

42
Brain

Publications for Neurodegeneration, Childhood-Onset, with Brain Atrophy

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

# Title Authors Year
1
A recurrent de novo missense mutation in UBTF causes developmental neuroregression. ( 29300972 )
2018
2
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. ( 28777933 )
2017

Variations for Neurodegeneration, Childhood-Onset, with Brain Atrophy

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

76
# Symbol AA change Variation ID SNP ID
1 UBTF p.Glu210Lys VAR_080139

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UBTF NM_014233.3(UBTF): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1555582065 GRCh37 Chromosome 17, 42290219: 42290219
2 UBTF NM_014233.3(UBTF): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1555582065 GRCh38 Chromosome 17, 44212851: 44212851

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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