MCID: CMP005
MIFTS: 58

Campomelic Dysplasia

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

Aliases & Classifications for Campomelic Dysplasia

MalaCards integrated aliases for Campomelic Dysplasia:

Name: Campomelic Dysplasia 53 12 72 23 49 24 55 71 36 51 41 14 69
Acampomelic Campomelic Dysplasia 53 12 71 13 69
Camptomelic Dysplasia 23 24 71 28
Campomelic Dysplasia with Autosomal Sex Reversal 53 71 28
Campomelic Dwarfism 23 24 55
Cmpd1/sra1 53 49 71
Cmpd1 53 49 71
Cmpd 53 49 71
Cmd1 53 49 71
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 71 28
Campomelic Syndrome 23 24
Chronic Myeloproliferative Disorder 69
Familial Dilated Cardiomyopathy 69
Camptomelic Dwarfism 23
Cmd1; Cmpd1 53

Characteristics:

Orphanet epidemiological data:

55
campomelic dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
majority die in neonatal period secondary to respiratory insufficiency


HPO:

31
campomelic dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Pathogenic variants in the sox9 coding region are completely penetrant...

Classifications:



Summaries for Campomelic Dysplasia

NIH Rare Diseases : 49 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 hermaphroditism and gonadoblastoma, and has symptoms including macrocephaly, hypertelorism and low-set ears. 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 Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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.

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.

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.

GeneReviews: NBK1760

Related Diseases for Campomelic Dysplasia

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hermaphroditism 30.3 SOX9 SRY
2 gonadoblastoma 30.2 SOX9 SRY
3 skeletal dysplasias 29.5 COL11A2 COL2A1 SOX9
4 cardiomyopathy, dilated, 1e 11.5
5 pierre robin sequence with pectus excavatum and rib and scapular anomalies 11.3
6 cardiomyopathy, dilated, 1b 11.1
7 camptomelic syndrome, long-limb type 11.1
8 atelosteogenesis, type i 11.0
9 boomerang dysplasia 11.0
10 myeloproliferative neoplasm 11.0
11 46,xy partial gonadal dysgenesis 10.3 SOX9 SRY
12 46,xx sex reversal 1 10.3 SOX9 SRY
13 mixed gonadal dysgenesis 10.3 SOX9 SRY
14 testicular disease 10.3 SOX9 SRY
15 persistent mullerian duct syndrome 10.2 SOX9 SRY
16 frasier syndrome 10.2 SOX9 SRY
17 46 xy gonadal dysgenesis 10.1 SOX9 SRY
18 thyrotoxic periodic paralysis 10.1 KCNJ16 KCNJ2
19 synovial chondromatosis 10.1 COL2A1 SOX9
20 bone deterioration disease 10.1 COL2A1 SOX9
21 gonadal dysgenesis 10.0 SOX9 SRY
22 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL11A2 COL2A1
23 bone structure disease 10.0 COL2A1 SOX9
24 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL11A2 COL2A1
25 otospondylomegaepiphyseal dysplasia 10.0 COL11A2 COL2A1
26 stickler syndrome 9.9 COL11A2 COL2A1
27 cleft palate, isolated 9.9
28 ischiocoxopodopatellar syndrome 9.9
29 campomelia, cumming type 9.9
30 pierre robin syndrome 9.9
31 brittle bone disorder 9.9
32 alacrima, achalasia, and mental retardation syndrome 9.9
33 nephrocalcinosis 9.9
34 malignant hyperthermia 9.9
35 tracheobronchomalacia 9.9
36 bone development disease 9.9 COL2A1 SOX9
37 spinal stenosis 9.9 COL11A2 COL2A1
38 ayme-gripp syndrome 9.8
39 dwarfism 9.8
40 hypotonia 9.8
41 osteoarthritis 9.7 COL11A2 COL2A1 SOX9
42 osteochondrodysplasia 9.7 COL2A1 SOX9

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:

53
Respiratory Lung:
respiratory distress
apnea

Head And Neck Eyes:
hypertelorism
short palpebral fissures

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

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

Skeletal Limbs:
talipes equinovarus
short phalanges both hands and feet
anterior bowing of tibia
short fibula
mildly bowed femur
more
Skeletal Spine:
kyphoscoliosis
hypoplastic, poorly ossified cervical vertebrae
non mineralized thoracic pedicles

Respiratory Airways:
tracheobronchomalacia

Growth Other:
failure to thrive in survivors

Cardiovascular Heart:
congenital heart defects

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

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

Head And Neck Head:
macrocephaly
large anterior fontanel

Head And Neck Ears:
low-set ears
hearing loss

Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Kidneys:
hydronephrosis

Chest RibsSternum Clavicles And Scapulae:
hypoplastic scapulae
11 pairs of ribs
slender ribs
absent sternal mineralization

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

Head And Neck Nose:
depressed nasal root

Chest External Features:
small thoracic cage

Skeletal Skull:
enlarged and elongated skull

Skin Nails Hair Skin:
cutaneous dimpling over bowed tibia


Clinical features from OMIM:

114290

Human phenotypes related to Campomelic Dysplasia:

55 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 55 31 frequent (33%) Frequent (79-30%) HP:0000369
4 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 respiratory insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002093
6 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
7 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
9 depressed nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0005280
10 hypoplastic inferior ilia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008821
11 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
12 laryngomalacia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001601
13 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
14 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
15 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
16 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
17 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
18 hip dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002827
19 talipes equinovarus 55 31 frequent (33%) Frequent (79-30%) HP:0001762
20 recurrent fractures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002757
21 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
22 skin dimples 55 31 frequent (33%) Frequent (79-30%) HP:0010781
23 abnormality of the sense of smell 55 31 occasional (7.5%) Occasional (29-5%) HP:0004408
24 male pseudohermaphroditism 55 31 frequent (33%) Frequent (79-30%) HP:0000037
25 ambiguous genitalia 55 31 frequent (33%) Frequent (79-30%) HP:0000062
26 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
27 femoral bowing 55 31 frequent (33%) Frequent (79-30%) HP:0002980
28 11 pairs of ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000878
29 tracheobronchomalacia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002786
30 tibial bowing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002982
31 fibular hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003038
32 small abnormally formed scapulae 55 31 hallmark (90%) Very frequent (99-80%) HP:0006584
33 hypoplasia of olfactory tract 55 31 occasional (7.5%) Occasional (29-5%) HP:0007036
34 poorly ossified cervical vertebrae 55 31 hallmark (90%) Very frequent (99-80%) HP:0008477
35 respiratory distress 31 HP:0002098
36 hydrocephalus 31 HP:0000238
37 failure to thrive 31 HP:0001508
38 bowing of the long bones 55 Very frequent (99-80%)
39 malformation of the heart and great vessels 55 Occasional (29-5%)
40 short long bone 55 Very frequent (99-80%)
41 apnea 31 HP:0002104
42 depressed nasal ridge 31 HP:0000457
43 thin ribs 31 HP:0000883
44 hypoplastic iliac wing 31 HP:0002866
45 polyhydramnios 31 HP:0001561
46 high forehead 31 HP:0000348
47 blepharophimosis 31 HP:0000581
48 disproportionate short-limb short stature 31 HP:0008873
49 neonatal short-limb short stature 31 HP:0008921
50 wide anterior fontanel 31 HP:0000260

UMLS symptoms related to Campomelic Dysplasia:


respiratory distress, apnea

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 SOX9 TBX4 COL11A2 COL2A1 KCNJ2 SOX10
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:

# Genetic test Affiliating Genes
1 Camptomelic Dysplasia 28 SOX9
2 Campomelic Dysplasia with Autosomal Sex Reversal 28
3 Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 28

Anatomical Context for Campomelic Dysplasia

MalaCards organs/tissues related to Campomelic Dysplasia:

38
Bone, Eye, Heart, Skin, Testis, Pancreas

The Foundational Model of Anatomy Ontology organs/tissues related to Campomelic Dysplasia:

18
Tibia Or

Publications for Campomelic Dysplasia

Articles related to Campomelic Dysplasia:

(show top 50) (show all 116)
# 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
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
4
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. ( 26631621 )
2016
5
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. ( 27833291 )
2016
6
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. ( 26602066 )
2016
7
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. ( 26740947 )
2015
8
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. ( 25940622 )
2015
9
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. ( 25983619 )
2015
10
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. ( 24451061 )
2014
11
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. ( 25041778 )
2014
12
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. ( 24821304 )
2014
13
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. ( 26078652 )
2014
14
Campomelic dysplasia. ( 24800790 )
2014
15
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. ( 24907458 )
2014
16
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. ( 23564514 )
2014
17
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. ( 24038782 )
2013
18
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
19
Clinical Utility Gene Card for: campomelic dysplasia. ( 23047745 )
2013
20
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. ( 23551858 )
2013
21
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. ( 21962881 )
2012
22
Acampomelic campomelic dysplasia in genetic male without sex reversal. ( 22202956 )
2012
23
Mild Campomelic Dysplasia: Report on a Case and Review. ( 21373255 )
2011
24
A case of campomelic dysplasia without sex reversal. ( 21218044 )
2011
25
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. ( 21614988 )
2011
26
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. ( 22097155 )
2011
27
Campomelic dysplasia and malignant hyperthermia. ( 22691592 )
2011
28
Campomelic dysplasia. ( 22346005 )
2011
29
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. ( 20513132 )
2010
30
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. ( 21284335 )
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
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. ( 20812307 )
2010
34
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. ( 19449405 )
2009
35
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. ( 19253311 )
2009
36
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
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
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. ( 17204049 )
2007
41
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. ( 17352389 )
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
Differentiating campomelic dysplasia from Cumming syndrome. ( 15754354 )
2005
45
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
46
The mildest form of campomelic dysplasia. ( 15578585 )
2005
47
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. ( 15806394 )
2005
48
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
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)
# 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 rs2229989

ClinVar genetic disease variations for Campomelic Dysplasia:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX9 NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
2 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic NCBI36 Chromosome 17, 66151316: 67111510
3 SOX9 SOX9, 583C-T single nucleotide variant Pathogenic
4 SOX9 SOX9, 1-BP INS, 783G insertion Pathogenic
5 SOX9 SOX9, 4-BP INS insertion Pathogenic
6 SOX9 NM_000346.3(SOX9): c.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh37 Chromosome 17, 70119734: 70119734
7 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
8 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh37 Chromosome 17, 70118945: 70118945
9 SOX9 SOX9, 1-BP DEL, 296G deletion Pathogenic
10 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh37 Chromosome 17, 70118921: 70118921
11 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh37 Chromosome 17, 70117759: 70117759
12 SOX9 SOX9, 30-BP DEL deletion Pathogenic
13 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh37 Chromosome 17, 70118890: 70118890
14 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh37 Chromosome 17, 70118900: 70118900
15 SOX9 SOX9, 1-BP INS, 1103A insertion Pathogenic
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.1180C> T (p.Arg394Ter) single nucleotide variant Pathogenic rs1057518216 GRCh38 Chromosome 17, 72124037: 72124037
18 SOX9 NM_000346.3(SOX9): c.1427T> C (p.Met476Thr) single nucleotide variant Likely pathogenic rs1057518669 GRCh38 Chromosome 17, 72124284: 72124284
19 SOX9 NM_000346.3(SOX9): c.252C> G (p.Tyr84Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 70117784: 70117784
20 SOX9 NM_000346.3(SOX9): c.349C> T (p.Gln117Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 70117881: 70117881

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:

# 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:

# 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 37)
# 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 collagen catabolic process GO:0030574 9.67 COL11A2 COL2A1
5 retina development in camera-type eye GO:0060041 9.67 SOX8 SOX9
6 cell fate commitment GO:0045165 9.67 SOX8 SOX9
7 collagen fibril organization GO:0030199 9.66 COL11A2 COL2A1
8 cell maturation GO:0048469 9.66 SOX10 SOX8
9 cellular response to BMP stimulus GO:0071773 9.65 COL2A1 SOX9
10 neural crest cell migration GO:0001755 9.65 SOX10 SOX8
11 potassium ion import GO:0010107 9.64 KCNJ16 KCNJ2
12 limb morphogenesis GO:0035108 9.64 COL2A1 TBX4
13 negative regulation of myoblast differentiation GO:0045662 9.63 SOX8 SOX9
14 peripheral nervous system development GO:0007422 9.63 SOX10 SOX8
15 cartilage condensation GO:0001502 9.62 COL2A1 SOX9
16 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.62 SOX8 SOX9
17 male sex determination GO:0030238 9.61 SOX9 SRY
18 enteric nervous system development GO:0048484 9.6 SOX10 SOX8
19 limb bud formation GO:0060174 9.59 COL2A1 SOX9
20 Sertoli cell development GO:0060009 9.58 SOX8 SOX9
21 notochord development GO:0030903 9.58 COL2A1 SOX9
22 positive regulation of male gonad development GO:2000020 9.57 SOX9 SRY
23 lacrimal gland development GO:0032808 9.56 SOX10 SOX9
24 otic vesicle development GO:0071599 9.55 COL2A1 SOX9
25 skeletal system morphogenesis GO:0048705 9.54 COL11A2 COL2A1 TBX4
26 negative regulation of photoreceptor cell differentiation GO:0046533 9.52 SOX8 SOX9
27 astrocyte fate commitment GO:0060018 9.51 SOX8 SOX9
28 chondrocyte differentiation GO:0002062 9.5 COL11A2 COL2A1 SOX9
29 metanephric nephron tubule formation GO:0072289 9.49 SOX8 SOX9
30 positive regulation of kidney development GO:0090184 9.48 SOX8 SOX9
31 positive regulation of gliogenesis GO:0014015 9.46 SOX10 SOX8
32 retinal rod cell differentiation GO:0060221 9.43 SOX8 SOX9
33 renal vesicle induction GO:0072034 9.4 SOX8 SOX9
34 oligodendrocyte differentiation GO:0048709 9.33 SOX10 SOX8 SOX9
35 ureter morphogenesis GO:0072197 9.26 SOX8 SOX9
36 tissue homeostasis GO:0001894 9.13 COL11A2 COL2A1 SOX9
37 morphogenesis of a branching epithelium GO:0061138 8.8 SOX10 SOX8 SOX9

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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