BAIDCS
MCID: STR112
MIFTS: 13

Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis (BAIDCS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Structural Brain Anomalies with Impaired Intellectual Development...

MalaCards integrated aliases for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:

Name: Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis 56 6
Baidcs 56

Classifications:



External Ids:

OMIM 56 618736

Summaries for Structural Brain Anomalies with Impaired Intellectual Development...

OMIM : 56 Patients with BAIDCS have small head circumference with abnormalities in brain anatomy including variable deficiency of the corpus callosum (including agenesis), abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial rhombencephalosynapsis (absence of the cerebellar vermis with fusion of the cerebellar hemispheres). Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present (Twigg et al., 2015; Vandervore et al., 2018). Craniosynostosis-6 (CRS6; 616602) is an allelic disorder. (618736)

MalaCards based summary : Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis, also known as baidcs, is related to craniosynostosis 6. An important gene associated with Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis is ZIC1 (Zic Family Member 1). Affiliated tissues include brain and cerebellum.

Related Diseases for Structural Brain Anomalies with Impaired Intellectual Development...

Diseases related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniosynostosis 6 11.5

Symptoms & Phenotypes for Structural Brain Anomalies with Impaired Intellectual Development...

Clinical features from OMIM:

618736

Drugs & Therapeutics for Structural Brain Anomalies with Impaired Intellectual Development...

Search Clinical Trials , NIH Clinical Center for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis

Genetic Tests for Structural Brain Anomalies with Impaired Intellectual Development...

Anatomical Context for Structural Brain Anomalies with Impaired Intellectual Development...

MalaCards organs/tissues related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:

40
Brain, Cerebellum

Publications for Structural Brain Anomalies with Impaired Intellectual Development...

Articles related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:

# Title Authors PMID Year
1
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. 56 6
30391508 2018
2
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. 56 6
26340333 2015

Variations for Structural Brain Anomalies with Impaired Intellectual Development...

ClinVar genetic disease variations for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZIC1 NM_003412.4(ZIC1):c.1163C>A (p.Ser388Ter)SNV Pathogenic 372161 rs1057517667 3:147131157-147131157 3:147413370-147413370
2 ZIC1 NM_003412.4(ZIC1):c.1165C>T (p.Gln389Ter)SNV Pathogenic 372162 rs1057517668 3:147131159-147131159 3:147413372-147413372
3 ZIC1 NM_003412.4(ZIC1):c.1204G>T (p.Glu402Ter)SNV Pathogenic 372163 rs1057517669 3:147131198-147131198 3:147413411-147413411
4 ZIC1 NM_003412.4(ZIC1):c.1214_1215insCACCATCGT (p.Pro406_Pro407insThrIleVal)insertion Pathogenic 804366 3:147131208-147131209 3:147413421-147413422

Expression for Structural Brain Anomalies with Impaired Intellectual Development...

Search GEO for disease gene expression data for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis.

Pathways for Structural Brain Anomalies with Impaired Intellectual Development...

GO Terms for Structural Brain Anomalies with Impaired Intellectual Development...

Sources for Structural Brain Anomalies with Impaired Intellectual Development...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
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54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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