MCID: CMP005
MIFTS: 60

Campomelic Dysplasia malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Campomelic Dysplasia

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Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Campomelic Dysplasia:

Name: Campomelic Dysplasia 50 11 69 22 46 23 24 13 52 68 48 37 66
Acampomelic Campomelic Dysplasia 50 11 23 68 12 66
Camptomelic Dysplasia 22 23 24 68 25
Campomelic Dwarfism 22 23 24 52
Campomelic Dysplasia with Autosomal Sex Reversal 50 68 25
Campomelic Syndrome 22 23 24
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 68 25
 
Camptomelic Dwarfism 22 23
Cmpd1/sra1 46 68
Cmpd1 46 68
Cmd1 46 68
Cmpd 46 68
Chronic Myeloproliferative Disorder 66
Familial Dilated Cardiomyopathy 66

Characteristics:

Orphanet epidemiological data:

52
campomelic dysplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

62
campomelic dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 114290
Disease Ontology11 DOID:0050463
MeSH37 D055036
Orphanet52 ORPHA140
SNOMED-CT60 74928006
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 D055036
UMLS via Orphanet67 C1861922

Summaries for Campomelic Dysplasia

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NIH Rare Diseases:46 Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. this condition is often life-threatening in the newborn period. affected individuals are typically born with bowing of the long bones in the legs and may also have bowing in the arms; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; feet that are abnormally rotated (club feet); external genitalia that do not look clearly male or clearly female (ambiguous genitalia); distinctive facial features (including a small chin, prominent eyes, flat face, a large head compared to their body size); a particular group of physical features, called pierre-robin sequence; and other abnormalities. it is caused by mutations in the sox9 gene and is inherited in an autosomal dominant pattern, although most cases result from a new mutation in the affected individual. treatment typically includes multiple surgeries to correct some of the above-mentioned abnormalities. when affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. last updated: 12/29/2010

MalaCards based summary: Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to pierre robin sequence with pectus excavatum and rib and scapular anomalies and chronic myeloproliferative disease, and has symptoms including cleft palate, macrocephaly and malar flattening. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box 9), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include tibia or, bone and eye, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Disease Ontology:11 An osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur.

Genetics Home Reference:24 Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.

OMIM:50 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...

UniProtKB/Swiss-Prot:68 Campomelic dysplasia: A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females.

Wikipedia:69 Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many... more...

GeneReviews summary for NBK1760

Related Diseases for Campomelic Dysplasia

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Diseases related to Campomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin sequence with pectus excavatum and rib and scapular anomalies11.2
2chronic myeloproliferative disease11.0
3cardiomyopathy, dilated, 1e10.9
4myh7-related dilated cardiomyopathy10.9
5camptomelic syndrome long limb type10.9
6spermatogenic failure, y-linked, 110.6SOX9, SRY
7drug-induced vasculitis10.6SOX9, SRY
848,xxxy syndrome10.6SOX9, SRY
9farmer's lung10.6SOX9, SRY
10prostate adenocarcinoma10.5SOX9, SRY
11leukorrhea10.5SOX9, SRY
12hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation10.4SOX9, SRY
13syphilitic myelopathy10.4COL2A1, SOX9
14multiple synostoses syndrome10.4SOX9, SRY
15deafness, autosomal dominant 1310.4COL11A2, COL2A1
16weissenbacher-zweymuller syndrome10.3COL11A2, COL2A1
17laryngomalacia10.3COL11A2, COL2A1
18chromosomal disease10.3COL2A1, SOX9
19meacham syndrome10.3SOX9, SRY
2046 xx gonadal dysgenesis10.2SOX9, SRY
21myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.1COL11A2, COL2A1, SOX9
22gonadal dysgenesis10.1
23dwarfism10.1
24albright's hereditary osteodystrophy10.1COL11A2, COL2A1
25cardiomyopathy, dilated, 1a10.0
26ischemic bone disease9.9COL2A1, SOX9
27small patella syndrome9.9
28gonadoblastoma9.9
29osteogenesis imperfecta9.9
30nephrocalcinosis9.9
31hermaphroditism9.9
32malignant hyperthermia9.9
33skeletal dysplasias9.9
34tracheobronchomalacia9.9
35intellectual disability9.9
36skeletal dysplasia9.9
37alveolar soft-part sarcoma6.0COL11A2, COL2A1, MIA, SOX10, SOX5, SOX6

Graphical network of the top 20 diseases related to Campomelic Dysplasia:



Diseases related to campomelic dysplasia

Symptoms for Campomelic Dysplasia

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Symptoms by clinical synopsis from OMIM:

114290

Clinical features from OMIM:

114290

Symptoms:

 52 (show all 38)
  • male pseudohermaphroditism
  • ambiguous genitalia
  • hydronephrosis
  • cleft palate
  • macrocephaly
  • hypertelorism
  • micrognathia
  • hearing impairment
  • low-set ears
  • short neck
  • proptosis
  • narrow chest
  • 11 pairs of ribs
  • laryngomalacia
  • talipes equinovarus
  • respiratory insufficiency
  • ventriculomegaly
  • malformation of the heart and great vessels
  • scoliosis
  • recurrent fractures
  • tracheomalacia
  • tracheobronchomalacia
  • kyphosis
  • hip dislocation
  • femoral bowing
  • tibial bowing
  • short long bone
  • fibular hypoplasia
  • short stature
  • abnormality of the sense of smell
  • depressed nasal bridge
  • bowing of the long bones
  • small abnormally formed scapulae
  • hypoplasia of olfactory tract
  • poorly ossified cervical vertebrae
  • hypoplastic inferior ilia
  • skin dimples
  • flat face

HPO human phenotypes related to Campomelic Dysplasia:

(show all 75)
id Description Frequency HPO Source Accession
1 cleft palate hallmark (90%) HP:0000175
2 macrocephaly hallmark (90%) HP:0000256
3 malar flattening hallmark (90%) HP:0000272
4 micrognathia hallmark (90%) HP:0000347
5 short neck hallmark (90%) HP:0000470
6 abnormality of the ribs hallmark (90%) HP:0000772
7 narrow chest hallmark (90%) HP:0000774
8 sprengel anomaly hallmark (90%) HP:0000912
9 laryngomalacia hallmark (90%) HP:0001601
10 respiratory insufficiency hallmark (90%) HP:0002093
11 scoliosis hallmark (90%) HP:0002650
12 recurrent fractures hallmark (90%) HP:0002757
13 tracheomalacia hallmark (90%) HP:0002779
14 abnormality of the fibula hallmark (90%) HP:0002991
15 abnormality of the tibia hallmark (90%) HP:0002992
16 abnormality of the hip bone hallmark (90%) HP:0003272
17 abnormality of bone mineral density hallmark (90%) HP:0004348
18 bowing of the long bones hallmark (90%) HP:0006487
19 abnormal vertebral ossification hallmark (90%) HP:0100569
20 male pseudohermaphroditism typical (50%) HP:0000037
21 ambiguous genitalia typical (50%) HP:0000062
22 hypertelorism typical (50%) HP:0000316
23 low-set, posteriorly rotated ears typical (50%) HP:0000368
24 proptosis typical (50%) HP:0000520
25 talipes typical (50%) HP:0001883
26 abnormality of the femur typical (50%) HP:0002823
27 short stature typical (50%) HP:0004322
28 sacrococcygeal pilonidal abnormality typical (50%) HP:0010767
29 hearing impairment occasional (7.5%) HP:0000365
30 ventriculomegaly occasional (7.5%) HP:0002119
31 kyphosis occasional (7.5%) HP:0002808
32 abnormality of the sense of smell occasional (7.5%) HP:0004408
33 depressed nasal bridge occasional (7.5%) HP:0005280
34 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
35 hydronephrosis HP:0000126
36 cleft palate HP:0000175
37 hydrocephalus HP:0000238
38 macrocephaly HP:0000256
39 wide anterior fontanel HP:0000260
40 small face HP:0000274
41 hypertelorism HP:0000316
42 micrognathia HP:0000347
43 high forehead HP:0000348
44 hearing impairment HP:0000365
45 low-set ears HP:0000369
46 depressed nasal ridge HP:0000457
47 blepharophimosis HP:0000581
48 11 pairs of ribs HP:0000878
49 hypoplastic scapulae HP:0000882
50 thin ribs HP:0000883
51 muscular hypotonia HP:0001252
52 failure to thrive HP:0001508
53 polyhydramnios HP:0001561
54 talipes equinovarus HP:0001762
55 respiratory distress HP:0002098
56 apnea HP:0002104
57 kyphoscoliosis HP:0002751
58 tracheobronchomalacia HP:0002786
59 hip dislocation HP:0002827
60 hypoplastic iliac wing HP:0002866
61 femoral bowing HP:0002980
62 fibular hypoplasia HP:0003038
63 shortening of all phalanges of the toes HP:0005035
64 thoracic hypoplasia HP:0005257
65 depressed nasal bridge HP:0005280
66 anterior tibial bowing HP:0006390
67 absent sternal ossification HP:0006628
68 hypoplastic cervical vertebrae HP:0008434
69 poorly ossified cervical vertebrae HP:0008477
70 disproportionate short-limb short stature HP:0008873
71 neonatal short-limb short stature HP:0008921
72 shortening of all phalanges of fingers HP:0011910
73 sex reversal HP:0012245
74 short palpebral fissure HP:0012745
75 abnormality of cardiovascular system morphology HP:0030680

UMLS symptoms related to Campomelic Dysplasia:


mass of lymphoreticular structure, respiratory distress

Drugs & Therapeutics for Campomelic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Campomelic Dysplasia


Cochrane evidence based reviews: campomelic dysplasia

Genetic Tests for Campomelic Dysplasia

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Genetic tests related to Campomelic Dysplasia:

id Genetic test Affiliating Genes
1 Camptomelic Dysplasia25
2 Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal25
3 Campomelic Dysplasia with Autosomal Sex Reversal25
4 Campomelic Dysplasia23 SOX9
5 Acampomelic Campomelic Dysplasia23

Anatomical Context for Campomelic Dysplasia

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MalaCards organs/tissues related to Campomelic Dysplasia:

34
Bone, Eye, Skin, Heart, Testis, Pancreas

FMA organs/tissues related to Campomelic Dysplasia:

17
Tibia or

Animal Models for Campomelic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Campomelic Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053717.9COL2A1, SOX10, SOX5, SOX6, SOX8, SOX9
2MP:00053887.8COL2A1, SOX10, SOX5, SOX6, SOX9, TBX18
3MP:00053827.1COL11A2, COL2A1, SOX5, SOX6, SOX9, SRA1
4MP:00053786.0COL11A2, COL2A1, SOX10, SOX5, SOX6, SOX8
5MP:00053905.9COL11A2, COL2A1, MIA, SOX5, SOX6, SOX8

Publications for Campomelic Dysplasia

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Articles related to Campomelic Dysplasia:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. (26631621)
2016
2
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel a811 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. (26663529)
2016
3
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. (25940622)
2015
4
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. (25983619)
2015
5
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. (26078652)
2014
6
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. (24451061)
2014
7
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. (23564514)
2014
8
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. (25041778)
2014
9
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. (24907458)
2014
10
Clinical Utility Gene Card for: campomelic dysplasia. (23047745)
2013
11
Acampomelic campomelic dysplasia in genetic male without sex reversal. (22202956)
2012
12
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. (21962881)
2012
13
Mild Campomelic Dysplasia: Report on a Case and Review. (21373255)
2011
14
A case of campomelic dysplasia without sex reversal. (21218044)
2011
15
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. (20812307)
2010
16
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. (19231556)
2009
17
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. (19449405)
2009
18
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. (19033726)
2008
19
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. (17204049)
2007
20
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. (16586480)
2006
21
Differentiating campomelic dysplasia from Cumming syndrome. (15754354)
2005
22
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. (15726498)
2005
23
The mildest form of campomelic dysplasia. (15578585)
2005
24
Variable expression of campomelic dysplasia in a father and his 46, XY daughter. (12687888)
2003
25
The phenotype of survivors of campomelic dysplasia. (12161603)
2002
26
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene. (11446414)
2001
27
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation. (11323423)
2001
28
Pathological case of the month. Campomelic dysplasia. (10891031)
2000
29
Prenatal diagnosis of campomelic dysplasia. (10976487)
2000
30
Acampomelic campomelic dysplasia with SOX9 mutation. (10951468)
2000
31
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (10446171)
1999
32
Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia. (10072439)
1999
33
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. (9678706)
1998
34
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. (9002675)
1997
35
Acampomelic campomelic dysplasia: further radiographic variations. (9066880)
1997
36
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal. (8789441)
1996
37
Campomelic dysplasia associated with mandibular clefting. (8652083)
1996
38
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. (8566951)
1996
39
Aetiology of the skeletal dysmorphology syndrome campomelic dysplasia: expression of the Sox9 gene during chondrogenesis in mouse embryos. (8702178)
1996
40
Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene. (8702120)
1996
41
Campomelic dysplasia--an underdiagnosed condition? (8482284)
1993
42
Campomelic Dysplasia (20301724)
1993
43
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. (8348155)
1993
44
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. (1809232)
1991
45
Acampomelic campomelic dysplasia. (2602025)
1989
46
Roentgen rounds #90. Newborn with club feet and dislocatable hips, knees, and elbows. Campomelic dysplasia. (3453994)
1987
47
Orthopaedic problems associated with survival in campomelic dysplasia. (6705404)
1984
48
Sonographic and radiologic findings in campomelic dysplasia. (6603755)
1983
49
Sex-reversed XY females with campomelic dysplasia are H-Y negative. (7196380)
1981
50
Campomelic dysplasia. Further elucidation of a distinct entity. (7361736)
1980

Variations for Campomelic Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Campomelic Dysplasia:

68 (show all 16)
id Symbol AA change Variation ID SNP ID
1SOX9p.Pro108LeuVAR_003735
2SOX9p.Phe112LeuVAR_003736
3SOX9p.Phe112SerVAR_003737
4SOX9p.Ala119ValVAR_003738
5SOX9p.Trp143ArgVAR_003739
6SOX9p.Arg152ProVAR_003740
7SOX9p.Pro170ArgVAR_003741
8SOX9p.Phe154LeuVAR_008529rs137853129
9SOX9p.Ala158ThrVAR_008530rs137853130
10SOX9p.His165TyrVAR_008531rs28940282
11SOX9p.Ala76GluVAR_063642rs137853128
12SOX9p.Met113ThrVAR_063643
13SOX9p.Met113ValVAR_063644
14SOX9p.His165GlnVAR_063645
15SOX9p.Pro170LeuVAR_063646
16SOX9p.Lys173GluVAR_063647rs104894647

Clinvar genetic disease variations for Campomelic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SOX9NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter)single nucleotide variantPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
2SOX9NG_012490.1: g.6775C> Gsingle nucleotide variantPathogenicrs2229989GRCh38Chr 17, 72122794: 72122794
3SOX9SOX9, 583C-Tsingle nucleotide variantPathogenic
4SOX9NM_000346.3(SOX9): c.736dupC (p.Gln246Profs)duplicationPathogenicrs587776541GRCh37Chr 17, 70119734: 70119734
5SOX9NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter)single nucleotide variantPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
6SOX9SOX9, 30-BP DELdeletionPathogenic
7SOX9NM_000346.3(SOX9): c.462C> G (p.Phe154Leu)single nucleotide variantPathogenicrs137853129GRCh37Chr 17, 70118890: 70118890
8SOX9SOX9, 1-BP INS, 1103AinsertionPathogenic

Expression for genes affiliated with Campomelic Dysplasia

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Search GEO for disease gene expression data for Campomelic Dysplasia.

Pathways for genes affiliated with Campomelic Dysplasia

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GO Terms for genes affiliated with Campomelic Dysplasia

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Cellular components related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:004479810.1SOX8, SOX9, SRY
2nucleusGO:00056346.5SOX10, SOX5, SOX6, SOX8, SOX9, SRA1

Biological processes related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.6SOX10, SOX9
2ureter morphogenesisGO:007219710.6SOX8, SOX9
3retinal rod cell differentiationGO:006022110.6SOX8, SOX9
4metanephric nephron tubule formationGO:007228910.6SOX8, SOX9
5astrocyte fate commitmentGO:006001810.6SOX8, SOX9
6renal vesicle inductionGO:007203410.5SOX8, SOX9
7positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.5SOX8, SOX9
8positive regulation of gliogenesisGO:001401510.5SOX10, SOX8
9enteric nervous system developmentGO:004848410.5SOX10, SOX8
10positive regulation of kidney developmentGO:009018410.5SOX8, SOX9
11limb bud formationGO:006017410.5COL2A1, SOX9
12otic vesicle developmentGO:007159910.5COL2A1, SOX9
13notochord developmentGO:003090310.5COL2A1, SOX9
14negative regulation of photoreceptor cell differentiationGO:004653310.4SOX8, SOX9
15cartilage condensationGO:000150210.4COL2A1, SOX9
16peripheral nervous system developmentGO:000742210.4SOX10, SOX8
17neural crest cell migrationGO:000175510.4SOX10, SOX8
18cell maturationGO:004846910.3SOX10, SOX8
19skeletal system morphogenesisGO:004870510.3COL11A2, COL2A1
20negative regulation of myoblast differentiationGO:004566210.3SOX8, SOX9
21morphogenesis of a branching epitheliumGO:006113810.3SOX10, SOX8, SOX9
22positive regulation of male gonad developmentGO:200002010.2SOX9, SRY
23male sex determinationGO:003023810.1SOX9, SRY
24collagen fibril organizationGO:003019910.1COL11A2, COL2A1
25Sertoli cell developmentGO:006000910.0SOX8, SOX9
26tissue homeostasisGO:000189410.0COL11A2, COL2A1, SOX9
27positive regulation of mesenchymal stem cell differentiationGO:200074110.0SOX5, SOX6, SOX9
28chondrocyte differentiationGO:000206210.0COL11A2, COL2A1, SOX9
29cell fate commitmentGO:004516510.0SOX6, SOX8, SOX9
30positive regulation of chondrocyte differentiationGO:00323329.9SOX5, SOX6, SOX9
31skeletal system developmentGO:00015019.8COL11A2, COL2A1, SOX9
32in utero embryonic developmentGO:00017019.8SOX10, SOX6, SOX8
33male gonad developmentGO:00085849.8SOX8, SOX9, SRY
34ossificationGO:00015039.8COL11A2, COL2A1, SOX9
35positive regulation of cartilage developmentGO:00610369.8SOX5, SOX6, SOX9
36cell differentiationGO:00301549.7SOX10, SOX9, SRA1, SRY
37cellular response to transforming growth factor beta stimulusGO:00715609.6SOX5, SOX6, SOX9
38oligodendrocyte differentiationGO:00487099.6SOX10, SOX6, SOX8, SOX9
39cartilage developmentGO:00512169.4COL11A2, COL2A1, SOX6, SOX9
40transcription from RNA polymerase II promoterGO:00063669.1SOX10, SOX5, SOX9, WWP2
41positive regulation of transcription, DNA-templatedGO:00458939.1SOX10, SOX6, SOX8, SOX9, SRY
42negative regulation of transcription, DNA-templatedGO:00458928.4SOX10, SOX6, SOX8, SOX9, WWP2
43positive regulation of transcription from RNA polymerase II promoterGO:00459448.4SOX10, SOX6, SOX8, SOX9, WWP2
44negative regulation of transcription from RNA polymerase II promoterGO:00001227.6SOX6, SOX9, SRY, TBX18, WWP2

Molecular functions related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:003002010.3COL11A2, COL2A1
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.1SOX10, SOX9, SRY
3transcriptional activator activity, RNA polymerase II transcription factor bindingGO:000119010.1SOX10, WWP2
4RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.0SOX10, SOX8, SOX9
5transcription regulatory region DNA bindingGO:00442129.7SOX10, SOX6, SOX9
6transcription factor bindingGO:00081348.6SOX10, SOX8, SRY, WWP2
7DNA bindingGO:00036778.2SOX10, SOX5, SOX6, SOX8, SOX9, SRY
8protein heterodimerization activityGO:00469828.1SOX6, SOX8, SOX9, SRY, TBX18
9transcription factor activity, sequence-specific DNA bindingGO:00037008.0SOX10, SOX5, SOX6, SOX8, SOX9, TBX18

Sources for Campomelic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet