CSYN
MCID: CSY001
MIFTS: 58

C Syndrome (CSYN)

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

Aliases & Classifications for C Syndrome

MalaCards integrated aliases for C Syndrome:

Name: C Syndrome 56 12 74 52 58 73 36 29 13 6 15 39
Opitz Trigonocephaly Syndrome 56 12 52 58 73 43
Trigonocephaly 74 36 29 54
Trigonocephaly C Syndrome 12 52 58
Trigonocephaly Syndrome 56 52 73
Opitz Trigonocephaly C Syndrome 12 58
Opitz C Trigonocephaly 12 58
Otcs 12 58
Csyn 73

Characteristics:

Orphanet epidemiological data:

58
c syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for C Syndrome

NIH Rare Diseases : 52 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 inherited metabolic disorder and mucopolysaccharidosis iii, 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 intellectual disability and depressed nasal bridge

Disease Ontology : 12 A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has material basis in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2.

OMIM : 56 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 : 36 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 : 73 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 : 74 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... more...

Related Diseases for C Syndrome

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

(show top 50) (show all 311)
# Related Disease Score Top Affiliating Genes
1 inherited metabolic disorder 30.4 NPC2 NPC1 ALB ABCA1
2 mucopolysaccharidosis iii 30.0 NPC2 NPC1 LAMP1 HGSNAT
3 hepatic coma 29.7 ALB AFP
4 mucopolysaccharidosis-plus syndrome 29.5 SMPD1 NPC2 NPC1 LAMP1 HGSNAT CTSD
5 trigonocephaly 1 12.7
6 trigonocephaly with short stature and developmental delay 12.7
7 trigonocephaly 2 12.6
8 ornithine transcarbamylase deficiency, hyperammonemia due to 12.4
9 isolated trigonocephaly 12.3
10 trigonocephaly-broad thumbs syndrome 12.2
11 jacobsen syndrome 11.6
12 chromosome 9p deletion syndrome 11.5
13 opitz gbbb syndrome, type i 11.5
14 cat eye syndrome 11.5
15 bohring-opitz syndrome 11.4
16 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.4
17 baraitser-winter syndrome 11.3
18 chromosome 3pter-p25 deletion syndrome 11.3
19 congenital disorder of glycosylation, type iu 11.3
20 ben ari shuper mimouni syndrome 11.2
21 lowry-maclean syndrome 11.2
22 orofaciodigital syndrome xiv 11.2
23 sandestig-stefanova syndrome 11.2
24 niemann-pick disease type c, juvenile neurologic onset 10.6 NPC2 NPC1
25 niemann-pick disease type c, adult neurologic onset 10.6 NPC2 NPC1
26 niemann-pick disease type c, severe early infantile neurologic onset 10.6 NPC2 NPC1
27 niemann-pick disease type c, late infantile neurologic onset 10.6 NPC2 NPC1
28 niemann-pick disease type c, severe perinatal form 10.6 NPC2 NPC1
29 acid sphingomyelinase deficiency 10.5 SMPD1 NPC1
30 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
31 malignant pineal area germ cell neoplasm 10.5 NPC2 AFP
32 urea cycle disorder 10.5
33 cork-handlers' disease 10.5 CD4 ALB
34 niemann-pick disease, type b 10.4 SMPD1 NPC2 NPC1
35 lysosomal and lipase deficiency 10.4 SMPD1 NPC2 NPC1
36 niemann-pick disease, type c2 10.4 SMPD1 NPC2 NPC1
37 thymus sarcomatoid carcinoma 10.4 ALB AFP
38 niemann-pick disease, type a 10.4 SMPD1 NPC2 NPC1
39 gm1 gangliosidosis 10.4 UGCG NPC2 NPC1
40 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.4 RAB7B RAB7A
41 chronic graft versus host disease 10.4 CD4 ALB
42 orotic aciduria 10.4
43 hepatic tuberculosis 10.4 ALB AFP
44 meningovascular neurosyphilis 10.4 CD4 ALB
45 hepatic infarction 10.4 ALB AFP
46 anti-basement membrane glomerulonephritis 10.4 CFHR2 CD4 ALB
47 autoimmune disease of urogenital tract 10.3 CFHR2 CD4 ALB
48 immune-complex glomerulonephritis 10.3 CFHR2 CD4 ALB
49 gastrointestinal tuberculosis 10.3 CD4 ALB
50 allergic rhinitis 10.3

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



Diseases related to C Syndrome

Symptoms & Phenotypes for C Syndrome

Human phenotypes related to C Syndrome:

58 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
4 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
8 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
9 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
10 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
11 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
12 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
13 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
14 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
15 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
16 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
17 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
18 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
19 female pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010458
20 hypoplasia of the ear cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100720
21 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
22 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
23 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
24 abnormality of the anus 58 31 frequent (33%) Frequent (79-30%) HP:0004378
25 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
26 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
27 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
28 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
29 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
30 sacral dimple 58 31 frequent (33%) Frequent (79-30%) HP:0000960
31 redundant skin 58 31 frequent (33%) Frequent (79-30%) HP:0001582
32 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
33 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
34 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
35 dislocated radial head 58 31 frequent (33%) Frequent (79-30%) HP:0003083
36 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
37 midline facial capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0007601
38 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
39 seizure 31 frequent (33%) HP:0001250
40 aplasia/hypoplasia of the abdominal wall musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0010318
41 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
42 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
43 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
44 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
45 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
46 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
47 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
48 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
49 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
50 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly

Skeletal Spine:
scoliosis

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

Head And Neck Face:
micrognathia

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
ventricular septal defect

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

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

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

Genitourinary External Genitalia Female:
prominent clitoris

Skeletal:
delayed skeletal maturation

Neurologic Central Nervous System:
seizures
psychomotor retardation
hypotonia

Head And Neck Head:
microcephaly
trigonocephaly

Growth Other:
failure to thrive

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Skeletal Pelvis:
hip dislocation

Abdomen External Features:
omphalocele

Skeletal Feet:
syndactyly
postaxial polydactyly
terminal transverse limb reduction

Genitourinary Kidneys:
renal cortical cysts

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.8 AFP CD96 NPC2

MGI Mouse Phenotypes related to C Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 ABCA1 ALB CD4 CTSD FGFR1 GBA2
2 homeostasis/metabolism MP:0005376 10.28 ABCA1 AFP ALB CD4 CD96 CTSD
3 growth/size/body region MP:0005378 10.23 ABCA1 CD4 CTSD FGFR1 HGSNAT IFT140
4 endocrine/exocrine gland MP:0005379 10.18 ABCA1 AFP ALB CD4 CD96 CTSD
5 immune system MP:0005387 10.18 ABCA1 ALB CD4 CD96 CTSD FGFR1
6 hematopoietic system MP:0005397 10.17 ABCA1 CD4 CD96 CTSD FGFR1 HGSNAT
7 mortality/aging MP:0010768 10.13 ABCA1 AFP ALB CD4 CTSD FGFR1
8 nervous system MP:0003631 9.9 ABCA1 CD4 CTSD FGFR1 HGSNAT IFT140
9 liver/biliary system MP:0005370 9.87 ABCA1 AFP ALB HGSNAT NPC1 NPC2
10 renal/urinary system MP:0005367 9.5 ABCA1 ALB FGFR1 HGSNAT IFT140 MMACHC
11 respiratory system MP:0005388 9.17 ABCA1 HGSNAT IFT140 MMACHC NPC1 NPC2

Drugs & Therapeutics for C Syndrome

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

Cochrane evidence based reviews: opitz trigonocephaly syndrome

Genetic Tests for C Syndrome

Genetic tests related to C Syndrome:

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

Anatomical Context for C Syndrome

MalaCards organs/tissues related to C Syndrome:

40
Skin, Bone, Eye, Kidney, Heart, Brain, Endothelial

Publications for C Syndrome

Articles related to C Syndrome:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. 6 56 61
17847009 2007
2
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). 61 56
16835930 2006
3
Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. 56 61
11038445 2000
4
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 56 61
10405439 1999
5
Probable Opitz trigonocephaly C syndrome with medulloblastoma. 61 56
9098489 1997
6
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. 61 56
1472356 1992
7
Opitz trigonocephaly syndrome. 61 56
1746609 1991
8
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. 61 56
2260586 1990
9
C syndrome with apparently normal development. 61 56
2260587 1990
10
Opitz C syndrome and pseudohypoaldosteronism. 56 61
2175542 1990
11
Trigonocephaly and the Opitz C syndrome. 56 61
3981579 1985
12
Optiz trigonocephaly syndrome: report of two cases. 61 56
6698065 1984
13
Further delineation of the C (trigonocephaly) syndrome. 61 56
7258228 1981
14
The Opitz trigonocephaly syndrome. A case report. 56 61
1190170 1975
15
A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. 56
16528754 2006
16
"C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. 56
7625448 1995
17
"C" trigonocephaly syndrome with diaphragmnatic hernia. 56
7546453 1995
18
"C" trigonocephaly syndrome: two additional cases. 56
2260588 1990
19
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development. 61
32121121 2020
20
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome. 61
31731183 2019
21
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. 61
29330474 2018
22
Bohring-opitz syndrome - A case of a rare genetic disorder. 61
28889139 2017
23
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 61
27874174 2017
24
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. 61
28281571 2017
25
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. 61
26768331 2016
26
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. 61
26411903 2015
27
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. 61
26347037 2015
28
Genes associated with low serum high-density lipoprotein cholesterol. 61
24916532 2014
29
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. 61
23301227 2013
30
Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome. 61
24255872 2013
31
Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report. 61
21689463 2011
32
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 61
20583299 2010
33
Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C. 61
21048366 2010
34
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. 61
19449408 2009
35
Cardiac arrest secondary to long QT(C )in a child with propionic acidemia. 61
18058159 2008
36
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 61
18024218 2008
37
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
38
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 61
17397050 2007
39
Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation. 61
17414277 2007
40
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 61
17033958 2006
41
Mortality and pathological findings in C (Opitz trigonocephaly) syndrome. 61
17162528 2006
42
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. 54
16526918 2006
43
A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. 61
15389716 2004
44
Partial trisomy 13 with features similar to C syndrome. 61
15235171 2004
45
Opitz trigonocephaly C syndrome associated with hearing loss. 61
14651551 2003
46
Managing occupational risks for hepatitis C transmission in the health care setting. 61
12857782 2003
47
[C syndrome]. 61
11462451 2001
48
Severe end of Opitz trigonocephaly C syndrome. 61
10861669 2000
49
The tetraspanin CD63/lamp3 cycles between endocytic and secretory compartments in human endothelial cells. 61
10793155 2000
50
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 54
11173846 2000

Variations for C Syndrome

ClinVar genetic disease variations for C Syndrome:

6 (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD96 CD96, EXONIC BREAKPOINTundetermined variant Pathogenic 4639
2 CD96 NM_005816.5(CD96):c.791C>T (p.Thr264Met)SNV Pathogenic 4640 rs119477056 3:111304209-111304209 3:111585362-111585362
3 CD96 NM_005816.5(CD96):c.54dup (p.Val19fs)duplication Conflicting interpretations of pathogenicity 225311 rs200703204 3:111261145-111261146 3:111542298-111542299
4 CD96 NM_198196.2(CD96):c.-115G>ASNV Uncertain significance 342516 rs886057763 3:111260981-111260981 3:111542134-111542134
5 CD96 NM_005816.5(CD96):c.718dup (p.Ile240fs)duplication Uncertain significance 816889 3:111298044-111298045 3:111579197-111579198
6 CD96 NM_005816.5(CD96):c.935A>G (p.Asp312Gly)SNV Uncertain significance 342533 rs886057765 3:111319609-111319609 3:111600762-111600762
7 CD96 NM_005816.5(CD96):c.1244C>T (p.Pro415Leu)SNV Uncertain significance 342539 rs886057766 3:111342664-111342664 3:111623817-111623817
8 CD96 NM_005816.5(CD96):c.*143C>ASNV Uncertain significance 342550 rs886057769 3:111368796-111368796 3:111649949-111649949
9 CD96 NM_005816.5(CD96):c.*172G>TSNV Uncertain significance 342552 rs886057770 3:111368825-111368825 3:111649978-111649978
10 CD96 NM_005816.5(CD96):c.*841G>CSNV Uncertain significance 342564 rs886057775 3:111369494-111369494 3:111650647-111650647
11 CD96 NM_005816.5(CD96):c.*1155C>ASNV Uncertain significance 342568 rs886057778 3:111369808-111369808 3:111650961-111650961
12 CD96 NM_005816.5(CD96):c.*1437A>GSNV Uncertain significance 342572 rs886057780 3:111370090-111370090 3:111651243-111651243
13 CD96 NM_005816.5(CD96):c.*1843G>ASNV Uncertain significance 342580 rs886057781 3:111370496-111370496 3:111651649-111651649
14 CD96 NM_005816.5(CD96):c.*2090A>GSNV Uncertain significance 342588 rs868287764 3:111370743-111370743 3:111651896-111651896
15 CD96 NM_005816.5(CD96):c.*2092_*2093insGAAAGAAinsertion Uncertain significance 342587 rs557338377 3:111370743-111370744 3:111651896-111651897
16 CD96 NM_005816.5(CD96):c.*2269G>TSNV Uncertain significance 342590 rs532593762 3:111370922-111370922 3:111652075-111652075
17 CD96 NM_198196.2(CD96):c.-117G>ASNV Uncertain significance 342515 rs886057762 3:111260979-111260979 3:111542132-111542132
18 CD96 NM_005816.5(CD96):c.544-1485G>ASNV Uncertain significance 342524 rs774695561 3:111296389-111296389 3:111577542-111577542
19 CD96 NM_005816.5(CD96):c.1337C>T (p.Pro446Leu)SNV Uncertain significance 342542 rs886057767 3:111356058-111356058 3:111637211-111637211
20 CD96 NM_005816.5(CD96):c.1456A>C (p.Thr486Pro)SNV Uncertain significance 342546 rs886057768 3:111356994-111356994 3:111638147-111638147
21 CD96 NM_005816.5(CD96):c.*844A>GSNV Uncertain significance 342565 rs886057776 3:111369497-111369497 3:111650650-111650650
22 CD96 NM_005816.5(CD96):c.*1183T>ASNV Uncertain significance 342569 rs886057779 3:111369836-111369836 3:111650989-111650989
23 CD96 NM_005816.5(CD96):c.*1196G>CSNV Uncertain significance 342570 rs534012574 3:111369849-111369849 3:111651002-111651002
24 CD96 NM_005816.5(CD96):c.*1364G>ASNV Uncertain significance 342571 rs368097665 3:111370017-111370017 3:111651170-111651170
25 CD96 NM_005816.5(CD96):c.*1801G>ASNV Uncertain significance 342576 rs750171040 3:111370454-111370454 3:111651607-111651607
26 CD96 NM_005816.5(CD96):c.*1815G>TSNV Uncertain significance 342579 rs146712540 3:111370468-111370468 3:111651621-111651621
27 CD96 NM_005816.5(CD96):c.*2064C>TSNV Uncertain significance 342582 rs369682226 3:111370717-111370717 3:111651870-111651870
28 CD96 NM_005816.5(CD96):c.*2094deldeletion Uncertain significance 342589 rs886057786 3:111370747-111370747 3:111651900-111651900
29 CD96 NM_005816.5(CD96):c.*2380C>ASNV Uncertain significance 342591 rs80033730 3:111371033-111371033 3:111652186-111652186
30 CD96 NM_005816.5(CD96):c.270T>C (p.Thr90=)SNV Uncertain significance 342521 rs751624723 3:111264101-111264101 3:111545254-111545254
31 CD96 NM_005816.5(CD96):c.419-13T>CSNV Uncertain significance 342522 rs772265929 3:111286357-111286357 3:111567510-111567510
32 CD96 NM_005816.5(CD96):c.854T>C (p.Ile285Thr)SNV Uncertain significance 342531 rs781311611 3:111317013-111317013 3:111598166-111598166
33 CD96 NM_005816.5(CD96):c.891A>G (p.Glu297=)SNV Uncertain significance 342532 rs886057764 3:111317050-111317050 3:111598203-111598203
34 CD96 NM_005816.5(CD96):c.1216G>T (p.Val406Leu)SNV Uncertain significance 342538 rs200767318 3:111342636-111342636 3:111623789-111623789
35 CD96 NM_005816.5(CD96):c.1622T>G (p.Phe541Cys)SNV Uncertain significance 342547 rs760873204 3:111368565-111368565 3:111649718-111649718
36 CD96 NM_005816.5(CD96):c.*807A>GSNV Uncertain significance 342560 rs886057773 3:111369460-111369460 3:111650613-111650613
37 CD96 NM_005816.5(CD96):c.*910A>TSNV Uncertain significance 342567 rs886057777 3:111369563-111369563 3:111650716-111650716
38 CD96 NM_005816.5(CD96):c.*2514T>GSNV Uncertain significance 342593 rs886057787 3:111371167-111371167 3:111652320-111652320
39 CD96 NM_005816.5(CD96):c.*2076deldeletion Uncertain significance 342583 rs886057782 3:111370729-111370729 3:111651882-111651882
40 CD96 NM_005816.5(CD96):c.*191G>ASNV Uncertain significance 342553 rs886057771 3:111368844-111368844 3:111649997-111649997
41 CD96 NM_005816.5(CD96):c.*680C>GSNV Uncertain significance 342558 rs886057772 3:111369333-111369333 3:111650486-111650486
42 CD96 NM_005816.5(CD96):c.*824A>TSNV Uncertain significance 342563 rs886057774 3:111369477-111369477 3:111650630-111650630
43 CD96 NM_005816.5(CD96):c.*2092_*2093insGAAinsertion Uncertain significance 342586 rs557338377 3:111370743-111370744 3:111651896-111651897
44 CD96 NM_005816.5(CD96):c.*2093_*2097deldeletion Uncertain significance 342585 rs771511889 3:111370743-111370747 3:111651896-111651900
45 CD96 NM_005816.5(CD96):c.*1803G>ASNV Likely benign 342577 rs184317872 3:111370456-111370456 3:111651609-111651609
46 CD96 NM_005816.5(CD96):c.*869G>CSNV Likely benign 342566 rs566078679 3:111369522-111369522 3:111650675-111650675
47 CD96 NM_005816.5(CD96):c.*713C>TSNV Likely benign 342559 rs550055490 3:111369366-111369366 3:111650519-111650519
48 CD96 NM_005816.5(CD96):c.*396C>TSNV Likely benign 342554 rs543716163 3:111369049-111369049 3:111650202-111650202
49 CD96 NM_005816.5(CD96):c.*531A>GSNV Likely benign 342556 rs35846778 3:111369184-111369184 3:111650337-111650337
50 CD96 NM_005816.5(CD96):c.*671T>CSNV Likely benign 342557 rs533117549 3:111369324-111369324 3:111650477-111650477

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

73
# Symbol AA change Variation ID SNP ID
1 CD96 p.Thr280Met VAR_037578 rs119477056

Expression for C Syndrome

Search GEO for disease gene expression data for C Syndrome.

Pathways for C Syndrome

Pathways related to C Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Adherens junction hsa04520
3 Regulation of actin cytoskeleton hsa04810

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

# Super pathways Score Top Affiliating Genes
1 11.59 RAB7B RAB7A LAMP1 CTSD
2 11.21 SMPD1 NPC2 NPC1 LAMP1 HGSNAT CTSD
3
Show member pathways
10.28 RAB7A NPC2 NPC1

GO Terms for C Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.06 SMPD1 NPC2 NPC1 FGFR1 CTSD CPB1
2 Golgi apparatus GO:0005794 9.98 UGCG RAB7B RAB7A NPC1 GBA2 ALB
3 endosome GO:0005768 9.8 SMPD1 RAB7B RAB7A NPC1 LAMP1 ABCA1
4 membrane raft GO:0045121 9.67 NPC1 CTSD CD4 ABCA1
5 lysosomal membrane GO:0005765 9.65 RAB7A NPC1 LAMP1 HGSNAT CTSD
6 lysosomal lumen GO:0043202 9.63 SMPD1 NPC2 CTSD
7 late endosome membrane GO:0031902 9.46 RAB7B RAB7A NPC1 LAMP1
8 phagocytic vesicle GO:0045335 9.26 RAB7B RAB7A LAMP1 ABCA1
9 lysosome GO:0005764 9.23 SMPD1 RAB7B RAB7A NPC2 NPC1 LAMP1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 RAB7A NPC2 LAMP1 HGSNAT CTSD
2 lipid metabolic process GO:0006629 9.85 UGCG RAB7A NPC2 NPC1 GBA2 ABCA1
3 cholesterol homeostasis GO:0042632 9.69 NPC2 NPC1 ABCA1
4 steroid metabolic process GO:0008202 9.62 NPC2 NPC1 GBA2 ABCA1
5 glycosphingolipid metabolic process GO:0006687 9.58 UGCG SMPD1 GBA2
6 bile acid metabolic process GO:0008206 9.49 NPC1 GBA2
7 protein lipidation GO:0006497 9.48 UGCG ABCA1
8 phagosome-lysosome fusion GO:0090385 9.43 RAB7B RAB7A
9 cholesterol transport GO:0030301 9.43 NPC2 NPC1 ABCA1
10 cholesterol efflux GO:0033344 9.33 NPC2 NPC1 ABCA1
11 intracellular cholesterol transport GO:0032367 9.13 NPC2 NPC1 ABCA1
12 cholesterol metabolic process GO:0008203 9.02 SMPD1 NPC2 NPC1 GBA2 ABCA1

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

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.13 NPC1 LAMP1 CD4
2 cholesterol binding GO:0015485 8.8 NPC2 NPC1 ABCA1

Sources for C 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
Content
Loading form....