SNIBCPS
MCID: SNJ002
MIFTS: 22

Snijders Blok-Campeau Syndrome (SNIBCPS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Snijders Blok-Campeau Syndrome

MalaCards integrated aliases for Snijders Blok-Campeau Syndrome:

Name: Snijders Blok-Campeau Syndrome 58 76 6
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies 58 76
Snibcps 58 76
Iddmsf 58 76
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies; Iddmsf 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation (in most patients)
variable severity and features


HPO:

33
snijders blok-campeau syndrome:
Onset and clinical course infantile onset


Classifications:



Summaries for Snijders Blok-Campeau Syndrome

OMIM : 58 Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by Snijders Blok et al., 2018). (618205)

MalaCards based summary : Snijders Blok-Campeau Syndrome, is also known as intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies. An important gene associated with Snijders Blok-Campeau Syndrome is CHD3 (Chromodomain Helicase DNA Binding Protein 3). Affiliated tissues include brain, and related phenotypes are cerebral visual impairment and hypertelorism

UniProtKB/Swiss-Prot : 76 Snijders Blok-Campeau syndrome: An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity.

Related Diseases for Snijders Blok-Campeau Syndrome

Symptoms & Phenotypes for Snijders Blok-Campeau Syndrome

Human phenotypes related to Snijders Blok-Campeau Syndrome:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 cerebral visual impairment 33 very rare (1%) HP:0100704
2 hypertelorism 33 HP:0000316
3 frontal bossing 33 HP:0002007
4 dysarthria 33 HP:0001260
5 global developmental delay 33 HP:0001263
6 wide nasal bridge 33 HP:0000431
7 delayed speech and language development 33 HP:0000750
8 stereotypy 33 HP:0000733
9 prominent forehead 33 HP:0011220
10 strabismus 33 HP:0000486
11 epicanthus 33 HP:0000286
12 ventriculomegaly 33 HP:0002119
13 midface retrusion 33 HP:0011800
14 astigmatism 33 HP:0000483
15 prominent nose 33 HP:0000448
16 unsteady gait 33 HP:0002317
17 speech apraxia 33 HP:0011098
18 hypermetropia 33 HP:0000540
19 broad-based gait 33 HP:0002136
20 stuttering 33 HP:0025268
21 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
astigmatism
hypermetropia
epicanthal folds
more
Head And Neck Face:
frontal bossing
prominent forehead
midface hypoplasia

Head And Neck Nose:
broad nasal bridge
large nose

Neurologic Behavioral Psychiatric Manifestations:
autistic features
friendly personality
stereotypic behaviors

Head And Neck Mouth:
high arched palate

Head And Neck Head:
macrocephaly (in most patients)

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
dysarthria
global developmental delay
unsteady gait
speech apraxia
broad-based gait
more
Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
dental abnormalities

Skeletal Spine:
scoliosis (in some patients)

Skeletal Feet:
foot deformities, mild

Clinical features from OMIM:

618205

Drugs & Therapeutics for Snijders Blok-Campeau Syndrome

Search Clinical Trials , NIH Clinical Center for Snijders Blok-Campeau Syndrome

Genetic Tests for Snijders Blok-Campeau Syndrome

Anatomical Context for Snijders Blok-Campeau Syndrome

MalaCards organs/tissues related to Snijders Blok-Campeau Syndrome:

42
Brain

Publications for Snijders Blok-Campeau Syndrome

Articles related to Snijders Blok-Campeau Syndrome:

# Title Authors Year
1
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. ( 30770872 )
2019
2
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. ( 29463886 )
2018

Variations for Snijders Blok-Campeau Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Snijders Blok-Campeau Syndrome:

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CHD3 p.His886Arg VAR_081507
2 CHD3 p.Leu915Phe VAR_081508
3 CHD3 p.Glu921Lys VAR_081509
4 CHD3 p.Gly961Glu VAR_081510
5 CHD3 p.Arg985Gln VAR_081511
6 CHD3 p.Arg985Trp VAR_081512
7 CHD3 p.Asp1120His VAR_081514
8 CHD3 p.Arg1121Pro VAR_081515
9 CHD3 p.Thr1136Ile VAR_081516
10 CHD3 p.Trp1158Arg VAR_081517
11 CHD3 p.Asn1159Lys VAR_081518
12 CHD3 p.His1161Arg VAR_081519
13 CHD3 p.Arg1169Trp VAR_081520
14 CHD3 p.His1171Arg VAR_081521
15 CHD3 p.Arg1172Gln VAR_081522
16 CHD3 p.Leu1236Pro VAR_081524
17 CHD3 p.Arg1342Gln VAR_081525
18 CHD3 p.Arg1881Leu VAR_081526

ClinVar genetic disease variations for Snijders Blok-Campeau Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD3 NM_001005271.2(CHD3): c.3130C> T (p.Arg1044Trp) single nucleotide variant Uncertain significance rs1555611722 GRCh37 Chromosome 17, 7804024: 7804024
2 CHD3 NM_001005271.2(CHD3): c.3130C> T (p.Arg1044Trp) single nucleotide variant Uncertain significance rs1555611722 GRCh38 Chromosome 17, 7900706: 7900706
3 CHD3 NM_001005273.2(CHD3): c.2745G> T (p.Leu915Phe) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7900352: 7900352
4 CHD3 NM_001005273.2(CHD3): c.2745G> T (p.Leu915Phe) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7803670: 7803670
5 CHD3 NM_001005273.2(CHD3): c.3472T> C (p.Trp1158Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7903038: 7903038
6 CHD3 NM_001005273.2(CHD3): c.3472T> C (p.Trp1158Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7806356: 7806356
7 CHD3 NM_001005273.2(CHD3): c.3505C> T (p.Arg1169Trp) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7903281: 7903281
8 CHD3 NM_001005273.2(CHD3): c.3505C> T (p.Arg1169Trp) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7806599: 7806599
9 CHD3 NM_001005273.2(CHD3): c.3515G> A (p.Arg1172Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7806609: 7806609
10 CHD3 NM_001005273.2(CHD3): c.3515G> A (p.Arg1172Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7903291: 7903291

Expression for Snijders Blok-Campeau Syndrome

Search GEO for disease gene expression data for Snijders Blok-Campeau Syndrome.

Pathways for Snijders Blok-Campeau Syndrome

GO Terms for Snijders Blok-Campeau Syndrome

Sources for Snijders Blok-Campeau Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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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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