MCID: CMP005
MIFTS: 58

Campomelic Dysplasia

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

Aliases & Classifications for Campomelic Dysplasia

MalaCards integrated aliases for Campomelic Dysplasia:

Name: Campomelic Dysplasia 54 12 72 23 50 24 25 56 71 52 42 14 69
Acampomelic Campomelic Dysplasia 54 12 24 71 13 69
Camptomelic Dysplasia 23 24 25 71 29
Campomelic Dwarfism 23 24 25 56
Campomelic Dysplasia with Autosomal Sex Reversal 54 71 29
Campomelic Syndrome 23 24 25
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 71 29
Camptomelic Dwarfism 23 24
Cmpd1/sra1 50 71
Cmpd1 50 71
Cmpd 50 71
Cmd1 50 71
Chronic Myeloproliferative Disorder 69
Familial Dilated Cardiomyopathy 69

Characteristics:

Orphanet epidemiological data:

56
campomelic dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
majority die in neonatal period secondary to respiratory insufficiency


HPO:

32
campomelic dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Sox9 coding region mutations are completely penetrant...

Classifications:



Summaries for Campomelic Dysplasia

NIH Rare Diseases : 50 campomelic dysplasia is a genetic disorder that affects the development of the skeleton and reproductive system. this condition is often life-threatening in the newborn period because of respiratory problems. affected children are typically born with bowing of the long bones in the legs and may also have bowing in the arms. about 75% of the children have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). common findings include distinctive facial features (including a small chin, prominent eyes, flat face, and a large head compared to their body size); a particular group of physical features, called pierre-robin sequence; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; and feet that are abnormally rotated (club feet). 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 person with the genetic disorder. treatment typically includes multiple surgeries to correct some of the abnormalities present.bowing of the limbs, the feature that gave the disorder its name (campomelic is derived from the greek for “bent limb), does not have to be present. when the limbs are not bowed, the term “acampomelic campomelic dysplasia” is used. last updated: 4/4/2017

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 myeloproliferative neoplasm, and has symptoms including short stature, scoliosis and ventriculomegaly. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box 9), and among its related pathways/superpathways are Endochondral Ossification and Neural Crest Differentiation. Affiliated tissues include bone, eye and heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region

Disease Ontology : 12 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 : 25 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 : 54
Campomelic dysplasia (CMPD) is an autosomal dominant skeletal dysplasia characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. CMPD is often lethal in the first year of life, due to respiratory insufficiency related to small chest size and tracheobronchial hypoplasia (summary by Matsushita et al., 2013). SOX9 mutations causing campomelic dysplasia have also been associated with 46,XY sex reversal, with marked variability in the degree of gonadal dysgenesis among patients carrying the same mutation (Cameron and Sinclair, 1997). (114290)

UniProtKB/Swiss-Prot : 71 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 : 72 Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many... more...

GeneReviews: NBK1760

Related Diseases for Campomelic Dysplasia

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 pierre robin sequence with pectus excavatum and rib and scapular anomalies 11.1
2 myeloproliferative neoplasm 11.0
3 cardiomyopathy, dilated, 1e 10.9
4 atelosteogenesis, type i 10.9
5 boomerang dysplasia 10.9
6 camptomelic syndrome long limb type 10.8
7 myeloproliferative disorder with eosinophilia 10.8
8 myh7-related dilated cardiomyopathy 10.8
9 idiopathic recurrent pericarditis 10.5 SOX9 SRY
10 spermatogenic failure, y-linked, 1 10.5 SOX9 SRY
11 brucella melitensis brucellosis 10.5 SOX9 SRY
12 vaginal discharge 10.5 SOX9 SRY
13 splenic disease 10.5 SOX9 SRY
14 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 10.4 SOX9 SRY
15 multiple synostoses syndrome 10.4 SOX9 SRY
16 meacham syndrome 10.3 SOX9 SRY
17 tibial hemimelia cleft lip palate 10.2 KCNJ16 KCNJ2
18 farmer's lung 10.2 SOX9 SRY
19 syringobulbia 10.2 COL2A1 SOX9
20 bone structure disease 10.1 COL2A1 SOX9
21 chromosomal disease 10.1 COL2A1 SOX9
22 progeroid syndrome, neonatal 10.1 COL11A2 COL2A1
23 deafness, autosomal dominant 13 10.1 COL11A2 COL2A1
24 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.0 COL11A2 COL2A1
25 craniodiaphyseal dysplasia 10.0 COL11A2 COL2A1
26 laryngomalacia 10.0 COL11A2 COL2A1
27 gonadal dysgenesis 10.0
28 vulvovaginitis 9.9 COL2A1 SOX9
29 46 xx gonadal dysgenesis 9.9 SOX9 SRY
30 myelodysplastic syndrome 9.8
31 pain disorder 9.8
32 charcot-marie-tooth disease type 5 9.8 COL11A2 COL2A1
33 ischemic bone disease 9.8 COL2A1 SOX9
34 hermaphroditism 9.8
35 malignant hyperthermia 9.8
36 skeletal dysplasias 9.8
37 tracheobronchomalacia 9.8
38 intellectual disability 9.8
39 skeletal dysplasia 9.8
40 gonadoblastoma 9.8
41 osteogenesis imperfecta 9.8
42 nephrocalcinosis 9.8
43 skin fragility-woolly hair-palmoplantar keratoderma syndrome 9.7 COL11A2 COL2A1 SOX9
44 dwarfism 9.7
45 hypotonia 9.7
46 alveolar soft-part sarcoma 6.8 COL11A2 COL2A1 KCNJ16 KCNJ2 SOX10 SOX8

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



Diseases related to Campomelic Dysplasia

Symptoms & Phenotypes for Campomelic Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
hydrocephalus
absent olfactory tract or bulbs

Head And Neck- Face:
high forehead
micrognathia
flat, small face

Head And Neck- Eyes:
hypertelorism
short palpebral fissures

Skeletal- Spine:
kyphoscoliosis
hypoplastic, poorly ossified cervical vertebrae
non mineralized thoracic pedicles

Respiratory- Lung:
respiratory distress
apnea

Chest- Ribs Sternum Clavicles And Scapulae:
slender ribs
hypoplastic scapulae
11 pairs of ribs
absent sternal mineralization

Head And Neck- Head:
macrocephaly
large anterior fontanel

Skeletal- Pelvis:
dislocated hips
small iliac wings
relatively wide pelvic outlet

Growth- Other:
failure to thrive in survivors

Chest- External Features:
small thoracic cage

Skeletal- Skull:
enlarged and elongated skull

Cardiovascular- Heart:
congenital heart defects

Head And Neck- Ears:
low-set ears
hearing loss

Head And Neck- Mouth:
cleft palate

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Genitourinary- Kidneys:
hydronephrosis

Skeletal- Limbs:
talipes equinovarus
short phalanges both hands and feet
anterior bowing of tibia
short fibula
mildly bowed femur
more
Head And Neck- Nose:
depressed nasal root

Growth- Height:
short limb dwarfism, prenatal onset
birth length 35-49 cm

Respiratory- Airways:
tracheobronchomalacia

Genitourinary:
sex reversal in some karyotypic males (ovarian, mullerian duct, and vaginal development in xy individuals)

Skin Nails & Hair- Skin:
cutaneous dimpling over bowed tibia


Clinical features from OMIM:

114290

Human phenotypes related to Campomelic Dysplasia:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
4 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
5 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 depressed nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005280
7 ambiguous genitalia 56 32 frequent (33%) Frequent (79-30%) HP:0000062
8 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
9 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
10 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
11 femoral bowing 56 32 frequent (33%) Frequent (79-30%) HP:0002980
12 tibial bowing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002982
13 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
14 hip dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002827
15 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
16 talipes equinovarus 56 32 frequent (33%) Frequent (79-30%) HP:0001762
17 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
18 narrow chest 56 32 hallmark (90%) Very frequent (99-80%) HP:0000774
19 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
20 recurrent fractures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002757
21 respiratory insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002093
22 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
23 11 pairs of ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000878
24 hypoplastic inferior ilia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008821
25 small abnormally formed scapulae 56 32 hallmark (90%) Very frequent (99-80%) HP:0006584
26 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
27 laryngomalacia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001601
28 male pseudohermaphroditism 56 32 frequent (33%) Frequent (79-30%) HP:0000037
29 tracheobronchomalacia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002786
30 fibular hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003038
31 hypoplasia of olfactory tract 56 32 occasional (7.5%) Occasional (29-5%) HP:0007036
32 skin dimples 56 32 frequent (33%) Frequent (79-30%) HP:0010781
33 abnormality of the sense of smell 56 32 occasional (7.5%) Occasional (29-5%) HP:0004408
34 poorly ossified cervical vertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0008477
35 failure to thrive 32 HP:0001508
36 high forehead 32 HP:0000348
37 hydrocephalus 32 HP:0000238
38 thin ribs 32 HP:0000883
39 kyphoscoliosis 32 HP:0002751
40 polyhydramnios 32 HP:0001561
41 respiratory distress 32 HP:0002098
42 apnea 32 HP:0002104
43 hypoplastic scapulae 32 HP:0000882
44 wide anterior fontanel 32 HP:0000260
45 tracheomalacia 56 Very frequent (99-80%)
46 blepharophimosis 32 HP:0000581
47 muscular hypotonia 32 HP:0001252
48 small face 32 HP:0000274
49 hypoplastic cervical vertebrae 32 HP:0008434
50 hypoplastic iliac wing 32 HP:0002866

UMLS symptoms related to Campomelic Dysplasia:


respiratory distress

GenomeRNAi Phenotypes related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.17 SRY
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.17 SOX10 SRY TBX4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.17 SOX10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.17 SRY
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.17 SOX10

MGI Mouse Phenotypes related to Campomelic Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 SOX8 SOX9 TBX4 COL11A2 COL2A1 KCNJ2
2 limbs/digits/tail MP:0005371 9.35 COL2A1 SOX10 SOX8 SOX9 TBX4
3 skeleton MP:0005390 9.1 COL11A2 COL2A1 KCNJ2 SOX8 SOX9 TBX4

Drugs & Therapeutics for Campomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Campomelic Dysplasia

Cochrane evidence based reviews: campomelic dysplasia

Genetic Tests for Campomelic Dysplasia

Genetic tests related to Campomelic Dysplasia:

id Genetic test Affiliating Genes
1 Camptomelic Dysplasia 29
2 Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 29
3 Campomelic Dysplasia with Autosomal Sex Reversal 29
4 Acampomelic Campomelic Dysplasia 24
5 Campomelic Dysplasia 24 SOX9

Anatomical Context for Campomelic Dysplasia

MalaCards organs/tissues related to Campomelic Dysplasia:

39
Bone, Eye, Heart, Skin, Pancreas, Testis

Publications for Campomelic Dysplasia

Articles related to Campomelic Dysplasia:

(show top 50) (show all 116)
id Title Authors Year
1
Absent pedicles in campomelic dysplasia. ( 28447148 )
2017
2
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. ( 28546996 )
2017
3
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. ( 27833291 )
2016
4
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. ( 26631621 )
2016
5
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
6
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. ( 26602066 )
2016
7
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. ( 25940622 )
2015
8
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. ( 26740947 )
2015
9
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. ( 25983619 )
2015
10
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. ( 24907458 )
2014
11
Campomelic dysplasia. ( 24800790 )
2014
12
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. ( 26078652 )
2014
13
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. ( 25041778 )
2014
14
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. ( 24821304 )
2014
15
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. ( 24451061 )
2014
16
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. ( 23564514 )
2014
17
Clinical Utility Gene Card for: campomelic dysplasia. ( 23047745 )
2013
18
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. ( 24038782 )
2013
19
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
20
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. ( 23551858 )
2013
21
Acampomelic campomelic dysplasia in genetic male without sex reversal. ( 22202956 )
2012
22
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. ( 21962881 )
2012
23
Mild Campomelic Dysplasia: Report on a Case and Review. ( 21373255 )
2011
24
Campomelic dysplasia and malignant hyperthermia. ( 22691592 )
2011
25
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. ( 22097155 )
2011
26
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. ( 21614988 )
2011
27
Campomelic dysplasia. ( 22346005 )
2011
28
A case of campomelic dysplasia without sex reversal. ( 21218044 )
2011
29
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. ( 21284335 )
2010
30
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. ( 20812307 )
2010
31
Campomelic dysplasia: a rare cause of congenital spinal deformity. ( 20199862 )
2010
32
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. ( 20453475 )
2010
33
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. ( 20513132 )
2010
34
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. ( 19921652 )
2009
35
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. ( 19449405 )
2009
36
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. ( 19253311 )
2009
37
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. ( 19231556 )
2009
38
Campomelic dysplasia: case report and review. ( 18165831 )
2008
39
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. ( 19033726 )
2008
40
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. ( 17352389 )
2007
41
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. ( 17204049 )
2007
42
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. ( 17185244 )
2006
43
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. ( 16586480 )
2006
44
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. ( 15717285 )
2005
45
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
46
Differentiating campomelic dysplasia from Cumming syndrome. ( 15754354 )
2005
47
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. ( 15806394 )
2005
48
The mildest form of campomelic dysplasia. ( 15578585 )
2005
49
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. ( 15060123 )
2004
50
A fatal Turkish case of campomelic dysplasia. ( 15008578 )
2004

Variations for Campomelic Dysplasia

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

71 (show all 18)
id Symbol AA change Variation ID SNP ID
1 SOX9 p.Pro108Leu VAR_003735
2 SOX9 p.Phe112Leu VAR_003736
3 SOX9 p.Phe112Ser VAR_003737
4 SOX9 p.Ala119Val VAR_003738
5 SOX9 p.Trp143Arg VAR_003739
6 SOX9 p.Arg152Pro VAR_003740
7 SOX9 p.Pro170Arg VAR_003741
8 SOX9 p.Phe154Leu VAR_008529 rs137853129
9 SOX9 p.Ala158Thr VAR_008530 rs137853130
10 SOX9 p.His165Tyr VAR_008531 rs28940282
11 SOX9 p.Ala76Glu VAR_063642 rs137853128
12 SOX9 p.Met113Thr VAR_063643
13 SOX9 p.Met113Val VAR_063644
14 SOX9 p.His165Gln VAR_063645
15 SOX9 p.Pro170Leu VAR_063646
16 SOX9 p.Lys173Glu VAR_063647 rs104894647
17 SOX9 p.His169Pro VAR_078491
18 SOX9 p.His169Gln VAR_078492

ClinVar genetic disease variations for Campomelic Dysplasia:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 SOX9 SOX9, 4-BP INS insertion Pathogenic
2 SOX9 SOX9, 583C-T single nucleotide variant Pathogenic
3 SOX9 SOX9, 1-BP INS, 783G insertion Pathogenic
4 SOX9 NM_000346.3(SOX9): c.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh37 Chromosome 17, 70119734: 70119734
5 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
6 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh37 Chromosome 17, 70118945: 70118945
7 SOX9 SOX9, 1-BP DEL, 296G deletion Pathogenic
8 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh37 Chromosome 17, 70118921: 70118921
9 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh37 Chromosome 17, 70117759: 70117759
10 SOX9 SOX9, 30-BP DEL deletion Pathogenic
11 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh37 Chromosome 17, 70118890: 70118890
12 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh37 Chromosome 17, 70118900: 70118900
13 SOX9 SOX9, 1-BP INS, 1103A insertion Pathogenic
14 SOX9 NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
15 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic NCBI36 Chromosome 17, 66151316: 67111510
16 SOX9 NM_000346.3(SOX9): c.1249C> T (p.Gln417Ter) single nucleotide variant Pathogenic rs886043831 GRCh37 Chromosome 17, 70120247: 70120247
17 SOX9 NM_000346.3(SOX9): c.1427T> C (p.Met476Thr) single nucleotide variant Likely pathogenic rs1057518669 GRCh37 Chromosome 17, 70120425: 70120425

Expression for Campomelic Dysplasia

Search GEO for disease gene expression data for Campomelic Dysplasia.

Pathways for Campomelic Dysplasia

Pathways related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.97 COL2A1 SOX9
2 10.93 COL11A2 COL2A1 SOX10 SOX9
3 10.59 SOX9 SRY

GO Terms for Campomelic Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 8.62 SOX8 SOX9

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

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 SOX10 SOX8 SOX9 SRY
2 skeletal system development GO:0001501 9.79 COL11A2 COL2A1 SOX9
3 cartilage development GO:0051216 9.71 COL11A2 COL2A1 SOX9
4 retina development in camera-type eye GO:0060041 9.67 SOX8 SOX9
5 collagen catabolic process GO:0030574 9.67 COL11A2 COL2A1
6 cell fate commitment GO:0045165 9.66 SOX8 SOX9
7 collagen fibril organization GO:0030199 9.66 COL11A2 COL2A1
8 cell maturation GO:0048469 9.65 SOX10 SOX8
9 neural crest cell migration GO:0001755 9.65 SOX10 SOX8
10 potassium ion import GO:0010107 9.64 KCNJ16 KCNJ2
11 peripheral nervous system development GO:0007422 9.64 SOX10 SOX8
12 limb morphogenesis GO:0035108 9.63 COL2A1 TBX4
13 negative regulation of myoblast differentiation GO:0045662 9.63 SOX8 SOX9
14 cartilage condensation GO:0001502 9.62 COL2A1 SOX9
15 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.62 SOX8 SOX9
16 male sex determination GO:0030238 9.61 SOX9 SRY
17 enteric nervous system development GO:0048484 9.6 SOX10 SOX8
18 Sertoli cell development GO:0060009 9.59 SOX8 SOX9
19 limb bud formation GO:0060174 9.58 COL2A1 SOX9
20 notochord development GO:0030903 9.58 COL2A1 SOX9
21 positive regulation of male gonad development GO:2000020 9.57 SOX9 SRY
22 lacrimal gland development GO:0032808 9.56 SOX10 SOX9
23 otic vesicle development GO:0071599 9.55 COL2A1 SOX9
24 skeletal system morphogenesis GO:0048705 9.54 COL11A2 COL2A1 TBX4
25 negative regulation of photoreceptor cell differentiation GO:0046533 9.52 SOX8 SOX9
26 astrocyte fate commitment GO:0060018 9.51 SOX8 SOX9
27 chondrocyte differentiation GO:0002062 9.5 COL11A2 COL2A1 SOX9
28 positive regulation of kidney development GO:0090184 9.49 SOX8 SOX9
29 metanephric nephron tubule formation GO:0072289 9.48 SOX8 SOX9
30 positive regulation of gliogenesis GO:0014015 9.46 SOX10 SOX8
31 renal vesicle induction GO:0072034 9.43 SOX8 SOX9
32 retinal rod cell differentiation GO:0060221 9.4 SOX8 SOX9
33 oligodendrocyte differentiation GO:0048709 9.33 SOX10 SOX8 SOX9
34 ureter morphogenesis GO:0072197 9.26 SOX8 SOX9
35 tissue homeostasis GO:0001894 9.13 COL11A2 COL2A1 SOX9
36 morphogenesis of a branching epithelium GO:0061138 8.8 SOX10 SOX8 SOX9

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.65 SOX10 SOX8 SOX9 SRY TBX4
2 transcription factor binding GO:0008134 9.58 SOX10 SOX8 SRY
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.54 SOX10 SOX8 SOX9
4 extracellular matrix structural constituent GO:0005201 9.43 COL11A2 COL2A1
5 inward rectifier potassium channel activity GO:0005242 9.32 KCNJ16 KCNJ2
6 G-protein activated inward rectifier potassium channel activity GO:0015467 9.16 KCNJ16 KCNJ2
7 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL11A2 COL2A1
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.8 SOX10 SOX9 SRY

Sources for Campomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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