CCMS
MCID: CRB154
MIFTS: 55

Cerebrocostomandibular Syndrome (CCMS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebrocostomandibular Syndrome

MalaCards integrated aliases for Cerebrocostomandibular Syndrome:

Name: Cerebrocostomandibular Syndrome 56 12 52 58 73 36 43 15 71
Cerebro-Costo-Mandibular Syndrome 12 52 73 29 6
Rib Gap Defects with Micrognathia 56 12 52 73
Ccms 56 12 52 73
Ccm Syndrome 12 52 73
Micrognathism 43

Characteristics:

Orphanet epidemiological data:

58
cerebrocostomandibular syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
forty percent of patients die in the first year
de novo mutation (in most patients)


HPO:

31
cerebrocostomandibular syndrome:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cerebrocostomandibular Syndrome

KEGG : 36 Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate). Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in the first year of life and death is due to respiratory failure. However, general development progresses well once the initial respiratory problems are survived. Specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS.

MalaCards based summary : Cerebrocostomandibular Syndrome, also known as cerebro-costo-mandibular syndrome, is related to cerebral cavernous malformation, familial and cavernous malformation. An important gene associated with Cerebrocostomandibular Syndrome is SNRPB (Small Nuclear Ribonucleoprotein Polypeptides B And B1), and among its related pathways/superpathways are Spliceosome and Fluid shear stress and atherosclerosis. The drugs Simvastatin and Diazepam have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and tongue, and related phenotypes are cleft palate and micrognathia

Disease Ontology : 12 A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has material basis in heterozygous mutation in SNRPB on 20p13.

NIH Rare Diseases : 52 Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening. Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported. No specific gene known to cause the condition has been identified. Treatment and prognosis depend on the features and severity in each affected person.

OMIM : 56 Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009). See CDG2G (611209) for a cerebrocostomandibular-like syndrome. (117650)

UniProtKB/Swiss-Prot : 73 Cerebrocostomandibular syndrome: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation.

Related Diseases for Cerebrocostomandibular Syndrome

Diseases in the Cerebrocostomandibular Syndrome family:

Cerebrocostomandibular-Like Syndrome

Diseases related to Cerebrocostomandibular Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformation, familial 33.4 PDCD10 KRIT1 CCM2
2 cavernous malformation 32.3 STK25 PDCD10 KRIT1 ITGB1BP1 CCM2L CCM2
3 cavernous hemangioma 31.6 PDCD10 KRIT1 ITGB1BP1 CCM2
4 cerebral cavernous malformations 3 30.7 STK26 STK25 PDCD10 KRIT1 CCM2
5 cerebral cavernous malformations 30.4 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
6 cerebral cavernous malformations 2 29.7 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
7 sengers syndrome 11.5
8 congenital vascular cavernous malformations 11.5
9 familial hemangioma 11.5
10 vascular erectile tumor 11.5
11 hypoglossia-hypodactylia 11.3
12 microphthalmia, syndromic 9 11.2
13 joubert syndrome 18 11.2
14 cleft palate short stature vertebral anomalies 11.2
15 hemangioma, capillary infantile 11.2
16 pierre robin syndrome 10.8
17 isolated pierre robin sequence 10.7
18 neural tube defects 10.6
19 scoliosis 10.6
20 cleft soft palate 10.5
21 respiratory failure 10.5
22 fibrosis of extraocular muscles, congenital, 1 10.3
23 cystic fibrosis 10.3
24 choanal atresia, posterior 10.3
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
26 fibroma 10.3
27 tracheomalacia 10.3
28 omphalocele 10.3
29 hypospadias 10.3
30 microcephaly 10.3
31 hydrocephalus 10.3
32 aqueous misdirection 10.3
33 macular retinal edema 10.3
34 polyhydramnios 10.3
35 horseshoe kidney 10.3
36 hypotonia 10.3
37 sleep apnea 10.3
38 visual epilepsy 10.2
39 seizure disorder 10.2
40 ankylosis 10.2
41 cerebral angioma 10.2 PDCD10 KRIT1 CCM2
42 atrial standstill 1 10.2
43 stroke, ischemic 10.2
44 small cell carcinoma 10.2
45 typhoid fever 10.2
46 vascular disease 10.2
47 astrocytoma 10.2
48 oligodendroglioma 10.2
49 systolic heart failure 10.2
50 anaplastic oligodendroglioma 10.2

Graphical network of the top 20 diseases related to Cerebrocostomandibular Syndrome:



Diseases related to Cerebrocostomandibular Syndrome

Symptoms & Phenotypes for Cerebrocostomandibular Syndrome

Human phenotypes related to Cerebrocostomandibular Syndrome:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 neonatal respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002643
4 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
5 posterior rib gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0030282
6 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
7 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
10 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
11 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
12 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
13 tracheomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002779
14 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
17 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
18 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
19 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
20 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
21 myelomeningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002475
22 hydranencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002324
23 short hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0010290
24 anteriorly placed anus 31 occasional (7.5%) HP:0001545
25 anal stenosis 31 occasional (7.5%) HP:0002025
26 porencephalic cyst 31 occasional (7.5%) HP:0002132
27 scoliosis 31 HP:0002650
28 abnormality of the dentition 31 HP:0000164
29 gastroesophageal reflux 31 HP:0002020
30 postnatal growth retardation 31 HP:0008897
31 high palate 31 HP:0000218
32 low-set ears 31 HP:0000369
33 horseshoe kidney 31 HP:0000085
34 ectopic kidney 31 HP:0000086
35 epicanthus 31 HP:0000286
36 atrial septal defect 31 HP:0001631
37 elbow flexion contracture 31 HP:0002987
38 congenital hip dislocation 31 HP:0001374
39 meningocele 58 Occasional (29-5%)
40 polyhydramnios 31 HP:0001561
41 patent ductus arteriosus 31 HP:0001643
42 long philtrum 31 HP:0000343
43 death in infancy 58 Frequent (79-30%)
44 malar flattening 31 HP:0000272
45 nasal speech 31 HP:0001611
46 spina bifida 58 Occasional (29-5%)
47 posteriorly rotated ears 31 HP:0000358
48 porencephaly 58 Occasional (29-5%)
49 renal cyst 31 HP:0000107
50 thoracic hypoplasia 31 HP:0005257

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
sacral fusion

Abdomen Gastrointestinal:
gastroesophageal reflux
nasogastric tube or gastrostomy feeding required (in most patients)
anteriorly placed anus (rare)
anal stenosis (rare)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, conductive

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Voice:
nasal speech

Neurologic Central Nervous System:
porencephaly
mental retardation (50% patients, likely secondary to neonatal hypoxia)

Skeletal Feet:
calcaneal epiphyseal stippling

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Teeth:
dental anomalies

Respiratory:
neonatal respiratory distress (requiring tracheostomy in most patients)

Respiratory Lung:
alveolar hypoplasia

Head And Neck Head:
microcephaly

Growth Other:
postnatal growth retardation

Genitourinary Kidneys:
horseshoe kidney
renal cyst
renal ectopia

Skeletal Pelvis:
congenital hip dislocation

Head And Neck Face:
long philtrum
malar hypoplasia
severe micrognathia (requiring surgical correction)

Head And Neck Mouth:
glossoptosis
cleft soft palate
high-arched palate
short palate
severely restricted mouth opening

Chest External Features:
bell-shaped thorax
small thorax

Chest Ribs Sternum Clavicles And Scapulae:
anomalous rib insertion to vertebrae
rudimentary rib
posterior rib gap defects
absent twelfth rib

Head And Neck Eyes:
epicanthal folds

Head And Neck Neck:
pterygium colli
accessory ossicle adjacent to hyoid bone (in some patients)
redundant posterior neck skin (in some patients)

Respiratory Airways:
abnormal tracheal cartilaginous ring

Skeletal Limbs:
hypoplastic humerus
flexion contracture (elbow)

Clinical features from OMIM:

117650

GenomeRNAi Phenotypes related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 8.8 MAP3K3 STK25 STK26

MGI Mouse Phenotypes related to Cerebrocostomandibular Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 CCM2 CCM2L CDH5 HEG1 KLF2 KRIT1
2 growth/size/body region MP:0005378 9.93 CCM2 CDH5 EFTUD2 HEG1 ITGB1BP1 KLF2
3 embryo MP:0005380 9.91 CCM2 CDH5 EFTUD2 HEG1 KLF2 KRIT1
4 craniofacial MP:0005382 9.87 CCM2 CDH5 HEG1 ITGB1BP1 KLF2 KRIT1
5 mortality/aging MP:0010768 9.83 CCM2 CCM2L CDH5 EFTUD2 HEG1 ITGB1BP1
6 muscle MP:0005369 9.17 CCM2 CCM2L HEG1 KLF2 KRIT1 MAP3K3

Drugs & Therapeutics for Cerebrocostomandibular Syndrome

Drugs for Cerebrocostomandibular Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Early Phase 1 79902-63-9 54454
2
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
3
Olanzapine Approved, Investigational 132539-06-1 4585
4
Dopamine Approved 51-61-6, 62-31-7 681
5
Risperidone Approved, Investigational 106266-06-2 5073
6
Ziprasidone Approved 146939-27-7 60854
7 Hypolipidemic Agents Early Phase 1
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Early Phase 1
9 Lipid Regulating Agents Early Phase 1
10 Anticholesteremic Agents Early Phase 1
11 Antimetabolites Early Phase 1
12 Dopamine Agents
13 Dopamine Antagonists
14 Antidepressive Agents
15 Psychotropic Drugs
16 Serotonin Uptake Inhibitors
17 Antiemetics
18 Quetiapine Fumarate 111974-72-2
19 Antipsychotic Agents
20 Neurotransmitter Agents
21 Gastrointestinal Agents
22 Ether
23
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 This Study is to Apply the Tongue Force to Correct the Dentofacial Deformities Unknown status NCT00916084 Phase 3
2 This Study is to Apply the Tongue Force to Correct the Dentofacial Deformities Completed NCT00519415 Phase 3
3 Accuracy Evaluation of A CAD/CAM Surgical Template for Mandible Distraction Unknown status NCT03270618
4 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
5 Predictive Modeling for Treatment of Upper Airway Obstruction in Young Children Completed NCT01690078
6 Implementing Health Plan-Level Care Management for Solo & Small Practices Completed NCT02041962
7 Disseminating Evidence-based Mood Disorder Chronic Care Models Completed NCT01615458
8 Hybrid Controlled Trial to Implement Collaborative Care in General Mental Health Completed NCT02543840
9 Evaluation of an Educational Booklet for Perioperative Orthognathic Surgery: Randomized Clinical Trial. Completed NCT01803204
10 Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations Recruiting NCT01764529
11 The Relevance Between the microRNA-30e in Plasma and the Prognosis of Schizophrenia Patients Recruiting NCT03007303 Atypical Antipsychotic
12 Quantitative Susceptibility Mapping Biomarker, Brain Structure and Connectome Associated With Cerebral Cavernous Malformation Related Epilepsy and Outcome After Surgery Recruiting NCT04076449
13 Comparative Study Between Custom-made Polyether Ether Ketone and Titanium Mesh for Augmentation of Atrophic Posterior Mandible. Randomized Clinical Trial Recruiting NCT04017117
14 A Clinic-Based Case Manager Administered Telephone Intervention to Reduce Cardiovascular Disease Risk in Persons Living With HIV Not yet recruiting NCT03839394
15 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329

Search NIH Clinical Center for Cerebrocostomandibular Syndrome

Cochrane evidence based reviews: micrognathism

Genetic Tests for Cerebrocostomandibular Syndrome

Genetic tests related to Cerebrocostomandibular Syndrome:

# Genetic test Affiliating Genes
1 Cerebro-Costo-Mandibular Syndrome 29 SNRPB

Anatomical Context for Cerebrocostomandibular Syndrome

MalaCards organs/tissues related to Cerebrocostomandibular Syndrome:

40
Kidney, Bone, Tongue, Skin, Brain, Heart

Publications for Cerebrocostomandibular Syndrome

Articles related to Cerebrocostomandibular Syndrome:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. 61 56 6
26971886 2016
2
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. 61 56 6
25504470 2015
3
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. 61 6 56
25047197 2014
4
Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome. 61 6
26240113 2016
5
Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation. 56 61
24100706 2014
6
Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome. 56 61
20177378 2010
7
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. 61 56
19008299 2009
8
Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review. 56 61
12514369 2003
9
Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome? 61 56
10323736 1999
10
Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome? 56 61
9781016 1998
11
Cerebro-costo-mandibular syndrome. 61 56
8882789 1996
12
Cerebrocostomandibular syndrome in four sibs, two pairs of twins. 61 56
1941967 1991
13
Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings. 56 61
3544846 1987
14
Cerebro-costo-mandibular syndrome: a familial case consistent with autosomal recessive inheritance. 61 56
4067764 1985
15
The cerebro-costo-mandibular syndrome: third report of familial occurrence. 61 56
3899422 1985
16
Cerebro-costo-mandibular syndrome with autosomal dominant inheritance. 61 56
7264806 1981
17
Cerebro-costo-mandibular syndrome. 61 56
7411303 1980
18
Cerebro-costo-mandibular syndrome. A case report and review of the literature. 61 56
7390499 1980
19
[Cerebro-costo-mandibular syndrome. Three new cases (author's transl)]. 56 61
634782 1978
20
Cerebro-costo-mandibular syndrome: a case with cardiac anomaly. 56 61
1111690 1975
21
Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome--a Pierre Robin-like syndrome with rib dysplasia. 56 61
5058512 1972
22
Cerebro-costo-mandibular syndrome. A new familial developmental disorder. 61 56
5427859 1970
23
Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development. 56
5928011 1966
24
Local modulation of the Wnt/β-catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro-costo-mandibular syndrome. 61
31884688 2020
25
Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features. 61
31915619 2019
26
Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses. 61
31741810 2019
27
Ocular Features of Cerebro-Costo-Mandibular Syndrome. 61
29117007 2018
28
Anna's compassion brought us some much-needed normality. 61
27794704 2016
29
A case of severe type of cerebro-costo-mandibular syndrome. 61
29652453 2016
30
A review of craniofacial disorders caused by spliceosomal defects. 61
25865758 2015
31
Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome. 61
25174690 2015
32
Ex utero intrapartum treatment for an infant with cerebro-costo-mandibular syndrome. 61
25252050 2014
33
Cerebro-costo-mandibular syndrome: Pierre Robin sequence with rib dysplasia. 61
21222053 2011
34
Total absence of ribs in a newborn with cerebrocostomandibular syndrome. 61
20658933 2011
35
Cerebro-costo-mandibular syndrome: Report of two cases. 61
27307910 2011
36
Preautopsy imaging in cerebro-costo-mandibular syndrome. 61
20464384 2010
37
Cerebro-costo-mandibular syndrome: prognosis and proposal for classification. 61
20507350 2010
38
Successful weaning of a laryngeal mask airway after a tongue-lip adhesion operation in a case with cerebro-costo-mandibular syndrome. 61
20225540 2010
39
Spine deformities in rare congenital syndromes: clinical issues. 61
19644333 2009
40
Syndromes, disorders and maternal risk factors associated with neural tube defects (V). 61
18935987 2008
41
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
42
[Prenatal diagnosis of a familial case of Cerebro-costo-mandibular syndrome]. 61
17652984 2007
43
Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence. 61
15239033 2004
44
[Cerebro-costo-mandibular syndrome. A case-report]. 61
14761732 2004
45
Three-dimensional ultrasonographic presentation of micrognathia. 61
12099566 2002
46
Cerebro-costo-mandibular syndrome: a case report. 61
11737720 2001
47
Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission. 61
11746136 2001
48
Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? 61
11310989 2001
49
Cerebro-costo-mandibular syndrome. A case report. 61
11360758 2001
50
Cerebro-costo-mandibular syndrome. 61
11200996 2001

Variations for Cerebrocostomandibular Syndrome

ClinVar genetic disease variations for Cerebrocostomandibular Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNRPB NM_003091.4(SNRPB):c.155+301G>CSNV Pathogenic 183431 rs786201019 20:2447952-2447952 20:2467306-2467306
2 SNRPB NM_003091.4(SNRPB):c.155+302G>CSNV Pathogenic 183432 rs786201020 20:2447951-2447951 20:2467305-2467305
3 SNRPB NM_003091.4(SNRPB):c.155+302G>TSNV Pathogenic 183433 rs786201020 20:2447951-2447951 20:2467305-2467305
4 SNRPB NM_003091.4(SNRPB):c.155+406C>ASNV Pathogenic 183434 rs786201021 20:2447847-2447847 20:2467201-2467201
5 SNRPB NM_003091.4(SNRPB):c.-72C>ASNV Pathogenic 183435 rs786201022 20:2451408-2451408 20:2470762-2470762

UniProtKB/Swiss-Prot genetic disease variations for Cerebrocostomandibular Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SNRPB p.Asn55Ser VAR_073380
2 SNRPB p.Asn55Thr VAR_073381
3 SNRPB p.Ser56Arg VAR_073382
4 SNRPB p.Ser56Trp VAR_073383

Expression for Cerebrocostomandibular Syndrome

Search GEO for disease gene expression data for Cerebrocostomandibular Syndrome.

Pathways for Cerebrocostomandibular Syndrome

Pathways related to Cerebrocostomandibular Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Spliceosome hsa03040

Pathways related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 RHOA KLF2 CDH5
2 10.65 TXNL4A SNRPB SF3B4 EFTUD2

GO Terms for Cerebrocostomandibular Syndrome

Cellular components related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.62 RAP1B KRIT1 HEG1 CDH5
2 spliceosomal complex GO:0005681 9.56 TXNL4A SNRPB SF3B4 EFTUD2
3 U5 snRNP GO:0005682 9.37 TXNL4A SNRPB
4 U4/U6 x U5 tri-snRNP complex GO:0046540 9.33 TXNL4A SNRPB EFTUD2
5 cell periphery GO:0071944 9.26 STK26 RHOA ITGB1BP1 CDH5
6 U2-type precatalytic spliceosome GO:0071005 8.92 TXNL4A SNRPB SF3B4 EFTUD2

Biological processes related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.92 TXNL4A SNRPB SF3B4 EFTUD2
2 mRNA splicing, via spliceosome GO:0000398 9.88 TXNL4A SNRPB SF3B4 EFTUD2
3 small GTPase mediated signal transduction GO:0007264 9.82 RHOA RAP1B KRIT1
4 cell morphogenesis GO:0000902 9.79 RHOA KLF2 CDH5
5 regulation of mitotic cell cycle GO:0007346 9.78 STK26 STK25 MAP3K3
6 activation of protein kinase activity GO:0032147 9.77 STK26 STK25 MAP3K3
7 multicellular organism growth GO:0035264 9.77 KLF2 HEG1 CCM2
8 cellular response to drug GO:0035690 9.73 RAP2A RAP1B EFTUD2
9 response to hydrogen peroxide GO:0042542 9.69 STK26 STK25 PDCD10
10 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.67 RHOA PDCD10 ITGB1BP1
11 RNA splicing, via transesterification reactions GO:0000375 9.65 TXNL4A SF3B4
12 cell-cell junction organization GO:0045216 9.65 HEG1 CCM2
13 positive regulation of stress-activated MAPK cascade GO:0032874 9.65 STK25 PDCD10
14 signal transduction by protein phosphorylation GO:0023014 9.65 STK26 STK25 MAP3K3
15 establishment of epithelial cell apical/basal polarity GO:0045198 9.64 RHOA RAP2A
16 stress fiber assembly GO:0043149 9.63 RHOA PDCD10
17 wound healing, spreading of cells GO:0044319 9.63 RHOA PDCD10
18 ventricular trabecula myocardium morphogenesis GO:0003222 9.62 HEG1 CCM2L
19 Rap protein signal transduction GO:0032486 9.58 RAP2A RAP1B
20 pericardium development GO:0060039 9.57 HEG1 CCM2
21 establishment of Golgi localization GO:0051683 9.55 STK25 PDCD10
22 venous blood vessel morphogenesis GO:0048845 9.54 HEG1 CCM2
23 vasculature development GO:0001944 9.54 HEG1 CDH5 CCM2
24 cardiac atrium morphogenesis GO:0003209 9.52 HEG1 CCM2L
25 positive regulation of fibroblast growth factor production GO:0090271 9.46 HEG1 CCM2L
26 Golgi reassembly GO:0090168 9.43 STK25 PDCD10
27 endothelial cell development GO:0001885 9.4 HEG1 CCM2
28 regulation of establishment of cell polarity GO:2000114 9.33 RAP1B KRIT1 CDH5
29 cardiac muscle tissue growth GO:0055017 9.32 HEG1 CCM2L
30 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 9.26 STK25 PDCD10
31 microvillus assembly GO:0030033 9.13 STK26 RAP2A RAP1B
32 stress-activated protein kinase signaling cascade GO:0031098 8.92 STK26 STK25 RHOA MAP3K3

Molecular functions related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 TXNL4A STK26 STK25 SNRPB SF3B4 RHOA
2 GTPase activity GO:0003924 9.26 RHOA RAP2A RAP1B EFTUD2
3 GDP binding GO:0019003 8.8 RHOA RAP2A RAP1B

Sources for Cerebrocostomandibular Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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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