MCID: NRD030
MIFTS: 16

Neurodegeneration, Childhood-Onset, with Brain Atrophy

Categories: Genetic diseases, Neuronal diseases, Fetal 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 75 6
Condba 57 75
Childhood-Onset Motor and Cognitive Regression Syndrome with Extrapyramidal Movement Disorder 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
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
recurrent mutation identified in 7 unrelated patients (last curated september 2017)


Classifications:



External Ids:

OMIM 57 617672
Orphanet 59 ORPHA500180
MeSH 44 D019636

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 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.

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
chorea
dystonia
rigidity
neurodegeneration
more
Head And Neck Head:
decreased head circumference, postnatal, progressive

Abdomen Gastrointestinal:
feeding difficulties


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:

41
Brain

Publications for Neurodegeneration, Childhood-Onset, with Brain Atrophy

Variations for Neurodegeneration, Childhood-Onset, with Brain Atrophy

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

75
# 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 GRCh37 Chromosome 17, 42290219: 42290219
2 UBTF NM_014233.3(UBTF): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic/Likely pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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