BAIDCS
MCID: STR112
MIFTS: 23

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 57 72 29 6 39
Baidcs 57 72

Characteristics:

OMIM®:

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


HPO:

31
structural brain anomalies with impaired intellectual development and craniosynostosis:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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, pons and cerebellum, and related phenotypes are intellectual disability and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 72 Structural brain anomalies with impaired intellectual development and craniosynostosis: A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial 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.

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 11.4

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

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

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 agenesis of corpus callosum 31 very rare (1%) HP:0001274
3 scoliosis 31 very rare (1%) HP:0002650
4 ptosis 31 very rare (1%) HP:0000508
5 microcephaly 31 very rare (1%) HP:0000252
6 strabismus 31 very rare (1%) HP:0000486
7 downslanted palpebral fissures 31 very rare (1%) HP:0000494
8 dandy-walker malformation 31 very rare (1%) HP:0001305
9 flat occiput 31 very rare (1%) HP:0005469
10 low anterior hairline 31 very rare (1%) HP:0000294
11 high forehead 31 very rare (1%) HP:0000348
12 spina bifida occulta 31 very rare (1%) HP:0003298
13 autistic behavior 31 very rare (1%) HP:0000729
14 optic nerve hypoplasia 31 very rare (1%) HP:0000609
15 hypoplasia of the pons 31 very rare (1%) HP:0012110
16 delayed closure of the anterior fontanelle 31 very rare (1%) HP:0001476
17 lambdoidal craniosynostosis 31 very rare (1%) HP:0004443
18 bicoronal synostosis 31 very rare (1%) HP:0011318
19 dilation of lateral ventricles 31 very rare (1%) HP:0006956
20 brachycephaly 31 HP:0000248
21 facial asymmetry 31 HP:0000324

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
colpocephaly
hypotonia
hypoplastic cerebellum
impaired intellectual development, moderate to severe
more
Head And Neck Head:
microcephaly
brachycephaly
flat occiput

Head And Neck Face:
high forehead
low frontal hairline
asymmetric face

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
attention deficit disorder

Skeletal Spine:
scoliosis
spina bifida occulta

Head And Neck Eyes:
strabismus
downslanting palpebral fissures

Neurologic Peripheral Nervous System:
optic nerve hypoplasia

Skeletal Skull:
ossification defects
coronal synostosis (bilateral)
lambdoidal synostosis (unilateral)
delayed closure posterior fontanel

Clinical features from OMIM®:

618736 (Updated 20-May-2021)

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...

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

# Genetic test Affiliating Genes
1 Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis 29 ZIC1

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, Pons, Cerebellum, Spinal Cord

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. 57 6
30391508 2018
2
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. 57 6
26340333 2015
3
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 57
27884935 2017

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 Position
1 ZIC1 NM_003412.4(ZIC1):c.1163C>A (p.Ser388Ter) SNV Pathogenic 372161 rs1057517667 GRCh37: 3:147131157-147131157
GRCh38: 3:147413370-147413370
2 ZIC1 NM_003412.4(ZIC1):c.1165C>T (p.Gln389Ter) SNV Pathogenic 372162 rs1057517668 GRCh37: 3:147131159-147131159
GRCh38: 3:147413372-147413372
3 ZIC1 NM_003412.4(ZIC1):c.1204G>T (p.Glu402Ter) SNV Pathogenic 372163 rs1057517669 GRCh37: 3:147131198-147131198
GRCh38: 3:147413411-147413411
4 ZIC1 NM_003412.4(ZIC1):c.1214_1215insCACCATCGT (p.Pro406_Pro407insThrIleVal) Insertion Pathogenic 804366 rs1576470749 GRCh37: 3:147131208-147131209
GRCh38: 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
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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