MCID: CMP005
MIFTS: 63

Campomelic Dysplasia malady

Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cardiovascular diseases categories

Aliases & Classifications for Campomelic Dysplasia

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Sources:
49OMIM, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 11diseasecard, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Campomelic Dysplasia:

Name: Campomelic Dysplasia 49 10 68 21 45 22 23 47 12 51 65 36 67
Acampomelic Campomelic Dysplasia 49 10 11 22 65 67
Camptomelic Dysplasia 21 22 23 24 67
Campomelic Dwarfism 21 22 23 51
Campomelic Dysplasia with Autosomal Sex Reversal 49 65 67
Campomelic Syndrome 21 22 23
Camptomelic Dwarfism 21 22
 
Cmpd1/sra1 45 67
Cmpd1 45 67
Cmd1 45 67
Cmpd 45 67
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 67
Chronic Myeloproliferative Disorder 65
Familial Dilated Cardiomyopathy 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
campomelic dysplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal


External Ids:

OMIM49 114290
Disease Ontology10 DOID:0050463
MeSH36 D055036
Orphanet51 140
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 D055036
UMLS via Orphanet66 C1861922

Summaries for Campomelic Dysplasia

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NIH Rare Diseases:45 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 nodular neuronal heterotopia, and has symptoms including cleft palate, macrocephaly and malar flattening. An important gene associated with Campomelic Dysplasia is SOX9 (SRY (Sex Determining Region Y)-Box 9), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Protein digestion and absorption. Affiliated tissues include tibia or, bone and eye, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Disease Ontology:10 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:23 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:49 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...

UniProtKB/Swiss-Prot:67 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.

GeneReviews summary for campo-dysp

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 top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin sequence with pectus excavatum and rib and scapular anomalies10.3
2nodular neuronal heterotopia10.3SOX9, SRY
3gonadal dysgenesis10.3
4dwarfism10.3
5pigmented paravenous retinochoroidal atrophy10.2SOX9, SRY
648,xxxy syndrome10.2SOX9, SRY
7third ventricle chordoid glioma10.2SOX9, SRY
8chronic closed-angle glaucoma10.2SOX9, SRY
9swyer-james syndrome10.2SOX9, SRY
10small patella syndrome10.2
11osteogenesis imperfecta10.2
12nephrocalcinosis10.2
13malignant hyperthermia10.2
14gonadoblastoma10.2
15chronic myeloproliferative disease10.2
16hermaphroditism10.2
17skeletal dysplasias10.2
18tracheobronchomalacia10.2
19skeletal dysplasia10.2
20testicular granulosa cell tumor10.2SOX9, SRY
21synovial chondromatosis, familial with dwarfism10.2COL2A1, SOX9
22herpes simplex10.2SOX9, SRY
23weissenbacher-zweymuller syndrome10.2COL11A2, COL2A1
24nasal cavity inverting papilloma10.2SOX9, SRY
25moebius syndrome10.2SOX10, SOX9, SRY
26otospondylomegaepiphyseal dysplasia10.1COL11A2, COL2A1
27macrogyria, pseudobulbar palsy and mental retardation10.1COL11A2, COL2A1
28camptomelic syndrome long limb type10.1
29borderline glaucoma10.1COL2A1, SOX9
30skeleto cardiac syndrome with thrombocytopenia10.1COL11A2, COL2A1, SOX9
31cardiomyopathy, dilated, 1a10.1
32cardiomyopathy, dilated, 1e10.1
33myh7-related dilated cardiomyopathy10.1
34scn5a-associated dilated cardiomyopathy10.1
35scn5a-related dilated cardiomyopathy10.1
36tpm1-related dilated cardiomyopathy10.1
37vitreoretinochoroidopathy dominant10.1COL2A1, COL9A2
38myasthenic syndrome, congenital, 2a, slow-channel10.1COL11A2, COL2A1, SOX9
39myelodysplastic syndrome10.0
40major depressive disorder and accelerated response to antidepressant drug treatment10.0
41major affective disorder 410.0
42major affective disorder 110.0
43major affective disorder 210.0
44asphyxia neonatorum10.0
45neurotic disorder10.0
46postpartum depression10.0
47disease of mental health10.0
48mental depression10.0
49mood disorder10.0
50unclassified chronic myeloproliferative disease10.0

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:

 51 (show all 38)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • flat face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • short neck
  • narrow rib cage/thorax
  • rib number anomalies
  • scoliosis
  • lack/delayed ossification of spine/vertebrae
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • laryngomalacia
  • tracheomalacia/tracheobronchomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • bone/osseous hypoplasia
  • mutiple fractures/bone fragility
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • stillbirth/neonatal death
  • hypertelorism
  • proptosis/exophthalmos
  • low set ears/posteriorly rotated ears
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • talipes-varus/metatarsal varus
  • dermoid sinus/dimple/pit (excluding sacral)
  • ambiguous genitalia
  • male pseudohermaphrodism/lack of virilisation
  • short stature/dwarfism/nanism
  • depressed nasal bridge
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • hearing loss/hypoacusia/deafness
  • kyphosis
  • congenital cardiac anomaly/malformation/cardiopathy
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • dilated cerebral ventricles without hydrocephaly

HPO human phenotypes related to Campomelic Dysplasia:

(show all 77)
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 malformation of the heart and great vessels occasional (7.5%) HP:0002564
32 kyphosis occasional (7.5%) HP:0002808
33 abnormality of the sense of smell occasional (7.5%) HP:0004408
34 depressed nasal bridge occasional (7.5%) HP:0005280
35 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
36 autosomal dominant inheritance HP:0000006
37 hydronephrosis HP:0000126
38 cleft palate HP:0000175
39 hydrocephalus HP:0000238
40 macrocephaly HP:0000256
41 wide anterior fontanel HP:0000260
42 small face HP:0000274
43 hypertelorism HP:0000316
44 micrognathia HP:0000347
45 high forehead HP:0000348
46 hearing impairment HP:0000365
47 low-set ears HP:0000369
48 depressed nasal ridge HP:0000457
49 blepharophimosis HP:0000581
50 11 pairs of ribs HP:0000878
51 hypoplastic scapulae HP:0000882
52 thin ribs HP:0000883
53 muscular hypotonia HP:0001252
54 failure to thrive HP:0001508
55 polyhydramnios HP:0001561
56 talipes equinovarus HP:0001762
57 respiratory distress HP:0002098
58 apnea HP:0002104
59 malformation of the heart and great vessels HP:0002564
60 kyphoscoliosis HP:0002751
61 tracheobronchomalacia HP:0002786
62 hip dislocation HP:0002827
63 hypoplastic iliac wing HP:0002866
64 femoral bowing HP:0002980
65 fibular hypoplasia HP:0003038
66 shortening of all phalanges of the toes HP:0005035
67 thoracic hypoplasia HP:0005257
68 depressed nasal bridge HP:0005280
69 anterior tibial bowing HP:0006390
70 absent sternal ossification HP:0006628
71 hypoplastic cervical vertebrae HP:0008434
72 poorly ossified cervical vertebrae HP:0008477
73 disproportionate short-limb short stature HP:0008873
74 neonatal short-limb short stature HP:0008921
75 shortening of all phalanges of fingers HP:0011910
76 sex reversal HP:0012245
77 short palpebral fissure HP:0012745

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 Campomelic Dysplasia22 SOX9
2 Acampomelic Campomelic Dysplasia22
3 Camptomelic Dysplasia24

Anatomical Context for Campomelic Dysplasia

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MalaCards organs/tissues related to Campomelic Dysplasia:

33
Bone, Eye, Olfactory bulb, Lung, Heart, Testis, Pancreas

FMA organs/tissues related to Campomelic Dysplasia:

16
Tibia or

Animal Models for Campomelic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Campomelic Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4COL2A1, SOX10, SOX5, SOX6, SOX8, SOX9
2MP:00053887.7COL2A1, SOX10, SOX5, SOX6, SOX9, TBX18
3MP:00053827.6COL11A2, COL2A1, SOX10, SOX5, SOX6, SOX9
4MP:00053907.5COL11A2, COL2A1, SOX5, SOX6, SOX8, SOX9
5MP:00053786.7COL11A2, COL2A1, SOX10, SOX5, SOX6, SOX8

Publications for Campomelic Dysplasia

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Articles related to Campomelic Dysplasia:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. (25940622)
2015
2
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. (26078652)
2014
3
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. (24451061)
2014
4
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. (23564514)
2014
5
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. (25041778)
2014
6
Clinical Utility Gene Card for: campomelic dysplasia. (23047745)
2013
7
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. (23648064)
2013
8
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. (24038782)
2013
9
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. (23551858)
2013
10
Mild Campomelic Dysplasia: Report on a Case and Review. (21373255)
2011
11
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. (22097155)
2011
12
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. (21284335)
2010
13
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. (20812307)
2010
14
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. (20513132)
2010
15
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. (17204049)
2007
16
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. (17352389)
2007
17
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. (16586480)
2006
18
Differentiating campomelic dysplasia from Cumming syndrome. (15754354)
2005
19
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
20
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. (15806394)
2005
21
Variable expression of campomelic dysplasia in a father and his 46, XY daughter. (12687888)
2003
22
Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. (11857796)
2002
23
Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia. (12128229)
2002
24
Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome. (12205120)
2002
25
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene. (11446414)
2001
26
SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia. (10955489)
2000
27
Prenatal diagnosis of campomelic dysplasia. (10976487)
2000
28
Acampomelic campomelic dysplasia with SOX9 mutation. (10951468)
2000
29
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (10446171)
1999
30
Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia. (10072439)
1999
31
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. (9724758)
1998
32
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. (9002675)
1997
33
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
34
Campomelic dysplasia associated with mandibular clefting. (8652083)
1996
35
A clinical and genetic study of campomelic dysplasia. (7666392)
1995
36
The role of SOX9 in autosomal sex reversal and campomelic dysplasia. (8570691)
1995
37
Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis. (7933045)
1994
38
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. (8001137)
1994
39
Campomelic dysplasia--an underdiagnosed condition? (8482284)
1993
40
Campomelic dysplasia without overt campomelia. (8281284)
1993
41
Campomelic Dysplasia (20301724)
1993
42
Picture of the month. Campomelic dysplasia. (8427248)
1993
43
Campomelic dysplasia without overt campomelia. (1342867)
1992
44
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. (1583645)
1992
45
Campomelic dysplasia without campomelia. (1560994)
1992
46
Temporal bone histopathological findings in campomelic dysplasia. (1613353)
1992
47
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. (1809232)
1991
48
Roentgen rounds #90. Newborn with club feet and dislocatable hips, knees, and elbows. Campomelic dysplasia. (3453994)
1987
49
Orthopaedic problems associated with survival in campomelic dysplasia. (6705404)
1984
50
Absence of H-Y antigen in an XY female with campomelic dysplasia. (7196381)
1981

Variations for Campomelic Dysplasia

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

67 (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_008529
9SOX9p.Ala158ThrVAR_008530
10SOX9p.His165TyrVAR_008531rs28940282
11SOX9p.Ala76GluVAR_063642
12SOX9p.Met113ThrVAR_063643
13SOX9p.Met113ValVAR_063644
14SOX9p.His165GlnVAR_063645
15SOX9p.Pro170LeuVAR_063646
16SOX9p.Lys173GluVAR_063647

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
2SOX9SOX9, 583C-Tsingle nucleotide variantPathogenic
3SOX9NM_000346.3(SOX9): c.736dupC (p.Gln246Profs)duplicationPathogenicrs587776541GRCh37Chr 17, 70119734: 70119734
4SOX9NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter)single nucleotide variantPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
5SOX9SOX9, 30-BP DELdeletionPathogenic
6SOX9NM_000346.3(SOX9): c.462C> G (p.Phe154Leu)single nucleotide variantPathogenicrs137853129GRCh37Chr 17, 70118890: 70118890
7SOX9SOX9, 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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Pathways related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SOX6, SOX9, SRY
29.1COL11A2, COL2A1, COL9A2
38.9COL2A1, SOX5, SOX6, SOX9
48.6COL11A2, COL2A1, SOX10, SOX5, SOX9
5
Show member pathways
7.2COL11A2, COL2A1, COL9A2, SOX10, SOX5, SOX6

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:00447989.7SOX5, SOX8, SOX9, SRY
2endoplasmic reticulum lumenGO:00057889.2COL11A2, COL2A1, COL9A2
3nucleusGO:00056346.6SOX10, SOX5, SOX6, SOX8, SOX9, SRA1

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

(show top 50)    (show all 51)
idNameGO IDScoreTop Affiliating Genes
1ureter morphogenesisGO:007219710.6SOX8, SOX9
2retinal rod cell differentiationGO:006022110.6SOX8, SOX9
3renal vesicle inductionGO:007203410.6SOX8, SOX9
4lacrimal gland developmentGO:003280810.6SOX10, SOX9
5positive regulation of kidney developmentGO:009018410.6SOX8, SOX9
6negative regulation of photoreceptor cell differentiationGO:004653310.6SOX8, SOX9
7astrocyte fate commitmentGO:006001810.6SOX8, SOX9
8metanephric nephron tubule formationGO:007228910.5SOX8, SOX9
9positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.5SOX8, SOX9
10positive regulation of gliogenesisGO:001401510.5SOX10, SOX8
11enteric nervous system developmentGO:004848410.5SOX10, SOX8
12peripheral nervous system developmentGO:000742210.4SOX10, SOX8
13cell maturationGO:004846910.4SOX10, SOX8
14negative regulation of myoblast differentiationGO:004566210.4SOX8, SOX9
15cartilage condensationGO:000150210.3COL2A1, SOX9
16tissue homeostasisGO:000189410.2COL2A1, SOX9
17chondrocyte differentiationGO:000206210.2COL2A1, SOX9
18morphogenesis of a branching epitheliumGO:006113810.2SOX10, SOX8, SOX9
19notochord developmentGO:003090310.2COL2A1, SOX9
20limb bud formationGO:006017410.2COL2A1, SOX9
21otic vesicle developmentGO:007159910.2COL2A1, SOX9
22ureter developmentGO:007218910.1SOX9, TBX18
23positive regulation of mesenchymal cell proliferationGO:000205310.1SOX9, TBX18
24collagen fibril organizationGO:003019910.0COL11A2, COL2A1
25positive regulation of mesenchymal stem cell differentiationGO:20007419.9SOX5, SOX6, SOX9
26positive regulation of chondrocyte differentiationGO:00323329.9SOX5, SOX6, SOX9
27cochlea morphogenesisGO:00901039.9SOX9, TBX18
28male sex determinationGO:00302389.9SOX9, SRY
29positive regulation of male gonad developmentGO:20000209.9SOX9, SRY
30negative regulation of gene expressionGO:00106299.9SOX9, SRY, WWP2
31ossificationGO:00015039.8COL11A2, COL2A1, SOX9
32cellular response to transforming growth factor beta stimulusGO:00715609.8SOX5, SOX6, SOX9
33positive regulation of cartilage developmentGO:00610369.7SOX5, SOX6, SOX9
34male gonad developmentGO:00085849.6SOX8, SOX9, SRY
35Sertoli cell developmentGO:00600099.5SOX8, SOX9
36cell fate commitmentGO:00451659.5SOX5, SOX6, SOX8, SOX9
37extracellular matrix disassemblyGO:00226179.3COL11A2, COL2A1, COL9A2
38in utero embryonic developmentGO:00017019.3SOX10, SOX5, SOX6, SOX8
39collagen catabolic processGO:00305749.3COL11A2, COL2A1, COL9A2
40sensory perception of soundGO:00076059.3COL11A2, COL2A1, TBX18
41positive regulation of transcription, DNA-templatedGO:00458939.2SOX10, SOX6, SOX8, SOX9, SRY
42oligodendrocyte differentiationGO:00487099.1SOX10, SOX5, SOX6, SOX8, SOX9
43skeletal system developmentGO:00015019.1COL11A2, COL2A1, COL9A2, SOX9
44extracellular matrix organizationGO:00301989.0COL11A2, COL2A1, COL9A2, SOX9
45transcription from RNA polymerase II promoterGO:00063669.0SOX10, SOX5, SOX9, WWP2
46cell differentiationGO:00301548.9SOX10, SOX9, SRA1, SRY, TBX18
47cartilage developmentGO:00512168.8COL11A2, COL2A1, SOX5, SOX6, SOX9
48negative regulation of transcription, DNA-templatedGO:00458928.4SOX10, SOX5, SOX6, SOX8, SOX9, WWP2
49negative regulation of transcription from RNA polymerase II promoterGO:00001228.3SOX6, SOX9, SRY, TBX18, WWP2
50positive regulation of transcription from RNA polymerase II promoterGO:00459447.9SOX10, SOX5, SOX6, SOX8, SOX9, WWP2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.1SOX10, SOX9, SRY
2transcriptional activator activity, RNA polymerase II transcription factor bindingGO:000119010.1SOX10, WWP2
3transcription regulatory region sequence-specific DNA bindingGO:00009769.9SOX9, TBX18
4transcription regulatory region DNA bindingGO:00442129.3SOX10, SOX5, SOX6, SOX9
5transcription factor bindingGO:00081349.2SOX10, SOX8, SRY, WWP2
6extracellular matrix structural constituent conferring tensile strengthGO:00300209.1COL11A2, COL2A1, COL9A2
7RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009818.8SOX10, SOX5, SOX6, SOX8, SOX9, SRY
8protein heterodimerization activityGO:00469827.7SOX5, SOX6, SOX8, SOX9, SRY, TBX18
9DNA bindingGO:00036777.5SOX10, SOX5, SOX6, SOX8, SOX9, SRY
10transcription factor activity, sequence-specific DNA bindingGO:00037007.1SOX10, SOX5, SOX6, SOX8, SOX9, SRY

Sources for Campomelic Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet