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CSYN
MCID: CSY001
MIFTS: 49

C Syndrome (CSYN)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for C Syndrome

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MalaCards integrated aliases for C Syndrome:

Name: C Syndrome 57 75 53 59 74 37 29 13 6 40
Opitz Trigonocephaly Syndrome 57 53 59 74
Trigonocephaly 75 37 29 55
Trigonocephaly Syndrome 57 53 74
Trigonocephaly C Syndrome 53 59
Opitz Trigonocephaly C Syndrome 59
Opitz C Trigonocephaly 59
Otcs 59
Csyn 74

Characteristics:

Orphanet epidemiological data:

59
c syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
c syndrome:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 211750
MeSH 44 D003398
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0796095
Orphanet 59 ORPHA1308
MedGen 42 C0796095
Sources

Summaries for C Syndrome

About this section
NIH Rare Diseases : 53 C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene.

MalaCards based summary : C Syndrome, also known as opitz trigonocephaly syndrome, is related to cat eye syndrome and cleft lip/palate, and has symptoms including seizures An important gene associated with C Syndrome is CD96 (CD96 Molecule), and among its related pathways/superpathways are MAPK signaling pathway and Adherens junction. Affiliated tissues include skin, bone and eye, and related phenotypes are short neck and high palate

OMIM : 57 The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11. (211750)

KEGG : 37
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.

UniProtKB/Swiss-Prot : 74 C syndrome: A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

Wikipedia : 75 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... more...

Sources

Related Diseases for C Syndrome

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

(show top 50) (show all 262)
# Related Disease Score Top Affiliating Genes
1 cat eye syndrome 31.5 FGFR1 CD96
2 cleft lip/palate 28.5 IFT140 FGFR1
3 trigonocephaly 1 12.7
4 trigonocephaly with short stature and developmental delay 12.7
5 trigonocephaly 2 12.6
6 ornithine transcarbamylase deficiency, hyperammonemia due to 12.4
7 isolated trigonocephaly 12.3
8 trigonocephaly-broad thumbs syndrome 12.2
9 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.9
10 chromosome 9p deletion syndrome 11.5
11 jacobsen syndrome 11.5
12 opitz gbbb syndrome, type i 11.5
13 bohring-opitz syndrome 11.4
14 corpus callosum agenesis double urinary collecting 11.3
15 baraitser-winter syndrome 11.3
16 ben ari shuper mimouni syndrome 11.2
17 lowry-maclean syndrome 11.2
18 chromosome 3pter-p25 deletion syndrome 11.2
19 congenital disorder of glycosylation, type iu 11.2
20 orofaciodigital syndrome xiv 11.2
21 dpm2-cdg 11.2
22 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
23 urea cycle disorder 10.4
24 orotic aciduria 10.4
25 allergic rhinitis 10.4
26 rhinitis 10.3
27 common cold 10.3
28 ocular motor apraxia 10.3
29 microcephaly 10.2
30 plagiocephaly 10.2
31 encephalopathy 10.2
32 autism spectrum disorder 10.2
33 gastroesophageal reflux 10.2
34 migraine with or without aura 1 10.2
35 headache 10.2
36 pseudovaginal perineoscrotal hypospadias 10.2
37 orofaciodigital syndrome vi 10.2
38 corpus callosum, partial agenesis of, x-linked 10.2
39 ptosis 10.2
40 neuroretinitis 10.2
41 ventricular septal defect 10.2
42 heart septal defect 10.2
43 cutis laxa 10.2
44 retinitis 10.2
45 hard palate cancer 10.2
46 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.2
47 autism 10.1
48 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
49 hydrocephalus 10.1
50 congenital hydrocephalus 10.1

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



Diseases related to C Syndrome
Sources

Symptoms & Phenotypes for C Syndrome

About this section

Human phenotypes related to C Syndrome:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 gingival overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000212
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
8 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
9 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
11 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
12 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
13 biparietal narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0004422
14 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
15 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
16 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243
17 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
18 hypoplasia of the ear cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100720
19 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
20 female pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010458
21 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
22 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
23 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
24 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
25 sacral dimple 59 32 frequent (33%) Frequent (79-30%) HP:0000960
26 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
27 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
28 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
29 abnormality of the anus 59 32 frequent (33%) Frequent (79-30%) HP:0004378
30 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
31 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
32 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
33 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
34 redundant skin 59 32 frequent (33%) Frequent (79-30%) HP:0001582
35 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
36 accessory oral frenulum 59 32 frequent (33%) Frequent (79-30%) HP:0000191
37 dislocated radial head 59 32 frequent (33%) Frequent (79-30%) HP:0003083
38 midline facial capillary hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0007601
39 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
40 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
41 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
42 aplasia/hypoplasia of the abdominal wall musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0010318
43 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
44 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
45 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
46 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
47 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
48 abnormal hair pattern 59 32 occasional (7.5%) Occasional (29-5%) HP:0010720
49 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
50 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
seizures
psychomotor retardation
hypotonia

Skeletal Spine:
scoliosis

Skeletal:
delayed skeletal maturation

Head And Neck Head:
microcephaly
trigonocephaly

Head And Neck Face:
micrognathia

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Pelvis:
hip dislocation

Abdomen External Features:
omphalocele

Genitourinary Kidneys:
renal cortical cysts

Chest Ribs Sternum Clavicles And Scapulae:
fused sternal ossification centers
pectus deformities
anomalous ribs

Genitourinary External Genitalia Female:
prominent clitoris

Skeletal Hands:
clinodactyly
postaxial polydactyly
ulnar deviation of the fingers
terminal transverse limb reduction
metacarpal hypoplasia

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
short nose
anteverted nares
broad nasal bridge

Growth Height:
short stature

Head And Neck Eyes:
strabismus
epicanthal folds
upward slanting palpebral fissures

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect

Skeletal Feet:
syndactyly
postaxial polydactyly
terminal transverse limb reduction

Head And Neck Mouth:
thick anterior alveolar ridges
high-arched palate
macrostomia
oral frenula

Skeletal Limbs:
radial head dislocation
short limbs

Skin Nails Hair Skin:
skin laxity

Clinical features from OMIM:

211750

UMLS symptoms related to C Syndrome:


seizures

MGI Mouse Phenotypes related to C Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 FGFR1 HGSNAT IFT140
Sources

Drugs & Therapeutics for C Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Quantifying the Attentive Behaviors of Older Adults During Over-the-counter Drug Selection Completed NCT02188134
2 Treatment of Persistent Urinary Incontinence in Children Completed NCT00124046
3 Comparison of Supportive Therapies for Symptom Relief From Pediatric Upper Respiratory Infections (URIs) Withdrawn NCT01814293

Search NIH Clinical Center for C Syndrome

Sources

Genetic Tests for C Syndrome

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Genetic tests related to C Syndrome:

# Genetic test Affiliating Genes
1 C Syndrome 29 CD96
2 Trigonocephaly 29
Sources

Anatomical Context for C Syndrome

About this section

MalaCards organs/tissues related to C Syndrome:

41
Skin, Bone, Eye, Kidney, Heart, Brain, Testes
Sources

Publications for C Syndrome

About this section

Articles related to C Syndrome:

(show top 50) (show all 449)
# Title Authors PMID Year
1
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. 38 8 71
17847009 2007
2
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). 38 8
16835930 2006
3
Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. 38 8
11038445 2000
4
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 38 8
10405439 1999
5
Probable Opitz trigonocephaly C syndrome with medulloblastoma. 38 8
9098489 1997
6
"C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. 38 8
7625448 1995
7
"C" trigonocephaly syndrome with diaphragmnatic hernia. 38 8
7546453 1995
8
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. 38 8
1472356 1992
9
Opitz trigonocephaly syndrome. 38 8
1746609 1991
10
Opitz C syndrome and pseudohypoaldosteronism. 38 8
2175542 1990
11
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. 38 8
2260586 1990
12
C syndrome with apparently normal development. 38 8
2260587 1990
13
"C" trigonocephaly syndrome: two additional cases. 38 8
2260588 1990
14
Trigonocephaly and the Opitz C syndrome. 38 8
3981579 1985
15
Optiz trigonocephaly syndrome: report of two cases. 38 8
6698065 1984
16
Further delineation of the C (trigonocephaly) syndrome. 38 8
7258228 1981
17
The Opitz trigonocephaly syndrome. A case report. 38 8
1190170 1975
18
A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. 8
16528754 2006
19
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. 9 38
16526918 2006
20
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 9 38
11173846 2000
21
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 38
30936465 2019
22
Follow-up study to investigate symmetry and stability of cranioplasty in craniosynostosis - Introduction of new pathology-specific parameters and a comparison to the norm population. 38
31353298 2019
23
Why do metopic sutural synostoses angulate? The concept of nasion sutural complex and its implication on the management of hypotelorism-early results and proof of concept. 38
30847619 2019
24
Statistical shape analyses of trigonocephaly patients. 38
31243581 2019
25
Trigonocephaly: Long-term results after surgical correction of metopic suture synostosis. 38
30712337 2019
26
Mild trigonocephaly associated with microcephaly: surgical outcomes for 15 cases. 38
30798373 2019
27
The Endocranial Bifrontal Angle: A Longitudinal Evaluation in Two Patients With Metopic Synostosis. 38
30939543 2019
28
Incidence of Familial Craniosynostosis Among Patients with Nonsyndromic Craniosynostosis. 38
30921071 2019
29
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. 38
30797980 2019
30
Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant. 38
30936921 2019
31
Trigonocephaly: Case Report, Review of Literature and a Technical Note. 38
30740173 2019
32
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication. 38
30733660 2019
33
Subsegmental Osteotomy Technique With Distraction Osteogenesis for Natural Frontal Contouring in Metopic Synostosis. 38
29649371 2019
34
Control of metopic emissary veins in trigonocephaly surgery. Technical note. 38
30054806 2018
35
Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years. 38
30020237 2018
36
Prenatal ultrasound parameters in single-suture craniosynostosis. 38
28553772 2018
37
Monosomy 9p24 in two non-related patients as result of a translocation (2;9). 38
30016040 2018
38
Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects. 38
29561489 2018
39
Safety Outcomes in Endoscopic Versus Open Repair of Metopic Craniosynostosis. 38
29461368 2018
40
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. 38
29392564 2018
41
Comparison of an unsupervised machine learning algorithm and surgeon diagnosis in the clinical differentiation of metopic craniosynostosis and benign metopic ridge. 38
29679032 2018
42
Volumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis. 38
29566469 2018
43
Intraoperative and postoperative complications in the surgical treatment of craniosynostosis: minimally invasive versus open surgical procedures. 38
29171801 2018
44
Cranial shape comparison for automated objective 3D craniosynostosis surgery planning. 38
29463840 2018
45
Bohring-Opitz Syndrome 38
29446906 2018
46
Shimoji's Cranioplasty Yielding Life-quality Improvements in MIld Trigonocephaly (SCYLIMIT). 38
30679895 2018
47
Surgical Hypercorrection of Trigonocephaly: Evaluation of Surgical Outcomes. 38
29068967 2018
48
Clinical Evaluation of Standardized Fronto-Orbital Advancement for Correction of Isolated Trigonocephaly. 38
29040150 2018
49
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. 38
29330474 2018
50
Endoscopy-assisted craniosynostosis surgery followed by helmet therapy. 38
29629226 2018
Sources

Variations for C Syndrome

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ClinVar genetic disease variations for C Syndrome:

6 (show top 50) (show all 83)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.3(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 3:111304209-111304209 3:111585362-111585362
3 CD96 NM_198196.3(CD96): c.54dup (p.Val19fs) duplication Uncertain significance rs200703204 3:111261149-111261149 3:111542302-111542302
4 CD96 NM_198196.2(CD96): c.-115G> A single nucleotide variant Uncertain significance rs886057763 3:111260981-111260981 3:111542134-111542134
5 CD96 NM_198196.3(CD96): c.983A> G (p.Asp328Gly) single nucleotide variant Uncertain significance rs886057765 3:111319609-111319609 3:111600762-111600762
6 CD96 NM_198196.3(CD96): c.*143C> A single nucleotide variant Uncertain significance rs886057769 3:111368796-111368796 3:111649949-111649949
7 CD96 NM_198196.3(CD96): c.*172G> T single nucleotide variant Uncertain significance rs886057770 3:111368825-111368825 3:111649978-111649978
8 CD96 NM_198196.3(CD96): c.*841G> C single nucleotide variant Uncertain significance rs886057775 3:111369494-111369494 3:111650647-111650647
9 CD96 NM_198196.3(CD96): c.*1155C> A single nucleotide variant Uncertain significance rs886057778 3:111369808-111369808 3:111650961-111650961
10 CD96 NM_198196.3(CD96): c.*1437A> G single nucleotide variant Uncertain significance rs886057780 3:111370090-111370090 3:111651243-111651243
11 CD96 NM_198196.3(CD96): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs886057766 3:111342664-111342664 3:111623817-111623817
12 CD96 NM_198196.3(CD96): c.*1843G> A single nucleotide variant Uncertain significance rs886057781 3:111370496-111370496 3:111651649-111651649
13 CD96 NM_198196.3(CD96): c.*2090A> G single nucleotide variant Uncertain significance rs868287764 3:111370743-111370743 3:111651896-111651896
14 CD96 NM_198196.3(CD96): c.*2092_*2093insGAAAGAA insertion Uncertain significance rs557338377 3:111370745-111370746 3:111651898-111651899
15 CD96 NM_198196.3(CD96): c.*2269G> T single nucleotide variant Uncertain significance rs532593762 3:111370922-111370922 3:111652075-111652075
16 CD96 NM_198196.2(CD96): c.-117G> A single nucleotide variant Uncertain significance rs886057762 3:111260979-111260979 3:111542132-111542132
17 CD96 NM_198196.3(CD96): c.584G> A (p.Gly195Asp) single nucleotide variant Uncertain significance rs774695561 3:111296389-111296389 3:111577542-111577542
18 CD96 NM_198196.3(CD96): c.1385C> T (p.Pro462Leu) single nucleotide variant Uncertain significance rs886057767 3:111356058-111356058 3:111637211-111637211
19 CD96 NM_198196.3(CD96): c.1504A> C (p.Thr502Pro) single nucleotide variant Uncertain significance rs886057768 3:111356994-111356994 3:111638147-111638147
20 CD96 NM_198196.3(CD96): c.*844A> G single nucleotide variant Uncertain significance rs886057776 3:111369497-111369497 3:111650650-111650650
21 CD96 NM_198196.3(CD96): c.*1183T> A single nucleotide variant Uncertain significance rs886057779 3:111369836-111369836 3:111650989-111650989
22 CD96 NM_198196.3(CD96): c.*1196G> C single nucleotide variant Uncertain significance rs534012574 3:111369849-111369849 3:111651002-111651002
23 CD96 NM_198196.3(CD96): c.*1364G> A single nucleotide variant Uncertain significance rs368097665 3:111370017-111370017 3:111651170-111651170
24 CD96 NM_198196.3(CD96): c.*1801G> A single nucleotide variant Uncertain significance rs750171040 3:111370454-111370454 3:111651607-111651607
25 CD96 NM_198196.3(CD96): c.*1815G> T single nucleotide variant Uncertain significance rs146712540 3:111370468-111370468 3:111651621-111651621
26 CD96 NM_198196.3(CD96): c.*2064C> T single nucleotide variant Uncertain significance rs369682226 3:111370717-111370717 3:111651870-111651870
27 CD96 NM_198196.3(CD96): c.*2094del deletion Uncertain significance rs886057786 3:111370747-111370747 3:111651900-111651900
28 CD96 NM_198196.3(CD96): c.*2380C> A single nucleotide variant Uncertain significance rs80033730 3:111371033-111371033 3:111652186-111652186
29 CD96 NM_198196.3(CD96): c.902T> C (p.Ile301Thr) single nucleotide variant Uncertain significance rs781311611 3:111317013-111317013 3:111598166-111598166
30 CD96 NM_198196.3(CD96): c.939A> G (p.Glu313=) single nucleotide variant Uncertain significance rs886057764 3:111317050-111317050 3:111598203-111598203
31 CD96 NM_198196.3(CD96): c.1264G> T (p.Val422Leu) single nucleotide variant Uncertain significance rs200767318 3:111342636-111342636 3:111623789-111623789
32 CD96 NM_198196.3(CD96): c.1670T> G (p.Phe557Cys) single nucleotide variant Uncertain significance rs760873204 3:111368565-111368565 3:111649718-111649718
33 CD96 NM_198196.3(CD96): c.*807A> G single nucleotide variant Uncertain significance rs886057773 3:111369460-111369460 3:111650613-111650613
34 CD96 NM_198196.3(CD96): c.*910A> T single nucleotide variant Uncertain significance rs886057777 3:111369563-111369563 3:111650716-111650716
35 CD96 NM_198196.3(CD96): c.270T> C (p.Thr90=) single nucleotide variant Uncertain significance rs751624723 3:111264101-111264101 3:111545254-111545254
36 CD96 NM_198196.3(CD96): c.419-13T> C single nucleotide variant Uncertain significance rs772265929 3:111286357-111286357 3:111567510-111567510
37 CD96 NM_198196.3(CD96): c.*2076del deletion Uncertain significance rs886057782 3:111370729-111370729 3:111651882-111651882
38 CD96 NM_198196.3(CD96): c.*2514T> G single nucleotide variant Uncertain significance rs886057787 3:111371167-111371167 3:111652320-111652320
39 CD96 NM_198196.3(CD96): c.*191G> A single nucleotide variant Uncertain significance rs886057771 3:111368844-111368844 3:111649997-111649997
40 CD96 NM_198196.3(CD96): c.*680C> G single nucleotide variant Uncertain significance rs886057772 3:111369333-111369333 3:111650486-111650486
41 CD96 NM_198196.3(CD96): c.*824A> T single nucleotide variant Uncertain significance rs886057774 3:111369477-111369477 3:111650630-111650630
42 CD96 NM_198196.3(CD96): c.*2092_*2093insGAA insertion Uncertain significance rs557338377 3:111370745-111370746 3:111651898-111651899
43 CD96 NM_198196.3(CD96): c.*2093_*2097del deletion Uncertain significance rs771511889 3:111370746-111370750 3:111651899-111651903
44 CD96 NM_198196.3(CD96): c.*819C> T single nucleotide variant Likely benign rs570063384 3:111369472-111369472 3:111650625-111650625
45 CD96 NM_198196.3(CD96): c.*1803G> A single nucleotide variant Likely benign rs184317872 3:111370456-111370456 3:111651609-111651609
46 CD96 NM_198196.3(CD96): c.*869G> C single nucleotide variant Likely benign rs566078679 3:111369522-111369522 3:111650675-111650675
47 CD96 NM_198196.3(CD96): c.*713C> T single nucleotide variant Likely benign rs550055490 3:111369366-111369366 3:111650519-111650519
48 CD96 NM_198196.3(CD96): c.*396C> T single nucleotide variant Likely benign rs543716163 3:111369049-111369049 3:111650202-111650202
49 CD96 NM_198196.3(CD96): c.*531A> G single nucleotide variant Likely benign rs35846778 3:111369184-111369184 3:111650337-111650337
50 CD96 NM_198196.3(CD96): c.*671T> C single nucleotide variant Likely benign rs533117549 3:111369324-111369324 3:111650477-111650477

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

74
# Symbol AA change Variation ID SNP ID
1 CD96 p.Thr280Met VAR_037578 rs119477056

Sources

Expression for C Syndrome

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Search GEO for disease gene expression data for C Syndrome.
Sources

Pathways for C Syndrome

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Pathways related to C Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Adherens junction hsa04520
3 Regulation of actin cytoskeleton hsa04810
Sources

GO Terms for C Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system morphogenesis GO:0048705 8.62 IFT140 FGFR1
Sources

Sources for C Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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