SNIBCPS
MCID: SNJ002
MIFTS: 23

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 57 74 6
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies 57 74
Snibcps 57 74
Iddmsf 57 74
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies; Iddmsf 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
snijders blok-campeau syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 618205
MeSH 44 D065886

Summaries for Snijders Blok-Campeau Syndrome

OMIM : 57 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 scoliosis and cerebral visual impairment

UniProtKB/Swiss-Prot : 74 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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 very rare (1%) HP:0002650
2 cerebral visual impairment 32 very rare (1%) HP:0100704
3 macrocephaly 32 HP:0000256
4 hypertelorism 32 HP:0000316
5 low-set ears 32 HP:0000369
6 frontal bossing 32 HP:0002007
7 dysarthria 32 HP:0001260
8 global developmental delay 32 HP:0001263
9 abnormality of the dentition 32 HP:0000164
10 wide nasal bridge 32 HP:0000431
11 delayed speech and language development 32 HP:0000750
12 stereotypy 32 HP:0000733
13 prominent forehead 32 HP:0011220
14 generalized hypotonia 32 HP:0001290
15 high, narrow palate 32 HP:0002705
16 strabismus 32 HP:0000486
17 epicanthus 32 HP:0000286
18 abnormality of the foot 32 HP:0001760
19 ventriculomegaly 32 HP:0002119
20 midface retrusion 32 HP:0011800
21 astigmatism 32 HP:0000483
22 prominent nose 32 HP:0000448
23 speech apraxia 32 HP:0011098
24 unsteady gait 32 HP:0002317
25 hypermetropia 32 HP:0000540
26 broad-based gait 32 HP:0002136
27 stuttering 32 HP:0025268
28 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
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
speech apraxia
unsteady gait
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:

41
Brain

Publications for Snijders Blok-Campeau Syndrome

Articles related to Snijders Blok-Campeau Syndrome:

# Title Authors PMID Year
1
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 8 71
29463886 2019
2
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 71
30770872 2019
3
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 8
30397230 2018
4
The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers. 8
26867680 2016

Variations for Snijders Blok-Campeau Syndrome

ClinVar genetic disease variations for Snijders Blok-Campeau Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHD3 NM_001005273.2(CHD3): c.2745G> T (p.Leu915Phe) single nucleotide variant Pathogenic 17:7803670-7803670 17:7900352-7900352
2 CHD3 NM_001005273.2(CHD3): c.2954G> A (p.Arg985Gln) single nucleotide variant Pathogenic 17:7804025-7804025 17:7900707-7900707
3 CHD3 NM_001005273.2(CHD3): c.3362G> C (p.Arg1121Pro) single nucleotide variant Pathogenic 17:7806037-7806037 17:7902719-7902719
4 CHD3 NM_001005273.2(CHD3): c.3472T> C (p.Trp1158Arg) single nucleotide variant Pathogenic 17:7806356-7806356 17:7903038-7903038
5 CHD3 NM_001005273.2(CHD3): c.3477C> A (p.Asn1159Lys) single nucleotide variant Pathogenic 17:7806361-7806361 17:7903043-7903043
6 CHD3 NM_001005273.2(CHD3): c.3505C> T (p.Arg1169Trp) single nucleotide variant Pathogenic 17:7806599-7806599 17:7903281-7903281
7 CHD3 NM_001005273.2(CHD3): c.3515G> A (p.Arg1172Gln) single nucleotide variant Pathogenic 17:7806609-7806609 17:7903291-7903291
8 CHD3 NM_001005273.2(CHD3): c.3707T> C (p.Leu1236Pro) single nucleotide variant Likely pathogenic 17:7806801-7806801 17:7903483-7903483
9 CHD3 NM_001005273.2(CHD3): c.4025G> A (p.Arg1342Gln) single nucleotide variant Likely pathogenic 17:7807890-7807890 17:7904572-7904572
10 CHD3 NM_001005273.2(CHD3): c.5642G> T (p.Arg1881Leu) single nucleotide variant Likely pathogenic 17:7813797-7813797 17:7910479-7910479
11 CHD3 NM_001005273.2(CHD3): c.3512A> G (p.His1171Arg) single nucleotide variant Likely pathogenic 17:7806606-7806606 17:7903288-7903288
12 CHD3 NM_001005273.2(CHD3): c.3482A> G (p.His1161Arg) single nucleotide variant Likely pathogenic 17:7806366-7806366 17:7903048-7903048
13 CHD3 NM_001005273.2(CHD3): c.3407C> T (p.Thr1136Ile) single nucleotide variant Likely pathogenic 17:7806291-7806291 17:7902973-7902973
14 CHD3 NM_001005273.2(CHD3): c.2761G> A (p.Glu921Lys) single nucleotide variant Likely pathogenic 17:7803686-7803686 17:7900368-7900368
15 CHD3 NM_001005273.2(CHD3): c.2882G> A (p.Gly961Glu) single nucleotide variant Likely pathogenic 17:7803953-7803953 17:7900635-7900635
16 CHD3 NM_001005273.2(CHD3): c.2657A> G (p.His886Arg) single nucleotide variant Likely pathogenic 17:7803326-7803326 17:7900008-7900008
17 CHD3 NM_001005273.2(CHD3): c.3357_3358delinsTC (p.Asp1120His) indel Likely pathogenic 17:7806032-7806033 17:7902714-7902715
18 CHD3 NM_001005271.3(CHD3): c.3130C> T (p.Arg1044Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1555611722 17:7804024-7804024 17:7900706-7900706
19 CHD3 NM_001005273.2(CHD3): c.3325_3327del short repeat Uncertain significance 17:7806000-7806002 17:7902682-7902684
20 CHD3 NM_001005273.2(CHD3): c.3560G> C (p.Arg1187Pro) single nucleotide variant Uncertain significance 17:7806654-7806654 17:7903336-7903336

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

74 (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 rs155561172
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

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

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73 UMLS via Orphanet
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