CMD1
MCID: CMP005
MIFTS: 58

Campomelic Dysplasia (CMD1)

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

Aliases & Classifications for Campomelic Dysplasia

MalaCards integrated aliases for Campomelic Dysplasia:

Name: Campomelic Dysplasia 58 12 77 25 54 26 60 76 38 56 45 15 74
Acampomelic Campomelic Dysplasia 58 12 76 13 6 74
Camptomelic Dysplasia 25 26 76 30 6
Campomelic Dysplasia with Autosomal Sex Reversal 58 76 30 6
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 76 30 6
Campomelic Dwarfism 25 26 60
Cmpd1/sra1 58 54 76
Cmpd1 58 54 76
Cmpd 58 54 76
Cmd1 58 54 76
Campomelic Syndrome 25 26
Chronic Myeloproliferative Disorder 74
Familial Dilated Cardiomyopathy 74
Dysplasia, Campomelic 41
Camptomelic Dwarfism 25
Cmd1; Cmpd1 58

Characteristics:

Orphanet epidemiological data:

60
campomelic dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
majority die in neonatal period secondary to respiratory insufficiency


HPO:

33
campomelic dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Pathogenic variants in the sox9 coding region are completely penetrant...

Classifications:



Summaries for Campomelic Dysplasia

NIH Rare Diseases : 54 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.

MalaCards based summary : Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to gonadal dysgenesis and hermaphroditism, and has symptoms including respiratory distress and apnea. 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 macrocephaly and short neck

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 : 26 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 : 58 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 : 76 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 : 77 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)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 30.7 SRY SOX9
2 hermaphroditism 30.4 SOX9 SRY
3 gonadoblastoma 30.3 SRY SOX9
4 pierre robin sequence with pectus excavatum and rib and scapular anomalies 11.5
5 cardiomyopathy, dilated, 1e 11.4
6 cardiomyopathy, dilated, 1b 11.3
7 camptomelic syndrome, long-limb type 11.2
8 atelosteogenesis, type i 11.2
9 boomerang dysplasia 11.2
10 myeloproliferative neoplasm 11.2
11 myeloproliferative disorder, chronic, with eosinophilia 11.1
12 dwarfism 10.4
13 cheirospondyloenchondromatosis 10.3
14 46,xy sex reversal 1 10.2 SRY SOX9
15 46,xy partial gonadal dysgenesis 10.2 SRY SOX9
16 mixed gonadal dysgenesis 10.2 SOX9 SRY
17 46,xx sex reversal 1 10.2 SOX9 SRY
18 waardenburg syndrome, type 4b 10.2 SOX10 SRY
19 waardenburg syndrome, type 4a 10.2 SOX10 SRY
20 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.2 SRY SOX10
21 persistent mullerian duct syndrome 10.1 SRY SOX9
22 gastric cancer 10.1
23 paine syndrome 10.1
24 myelodysplastic syndrome 10.1
25 bone marrow cancer 10.1
26 46 xy gonadal dysgenesis 10.1 SRY SOX9
27 synovial chondromatosis 10.0 SOX9 COL2A1
28 thyrotoxic periodic paralysis 10.0 KCNJ2 KCNJ16
29 cleft palate, isolated 10.0
30 ischiocoxopodopatellar syndrome 10.0
31 campomelia, cumming type 10.0
32 pierre robin syndrome 10.0
33 brittle bone disorder 10.0
34 alacrima, achalasia, and mental retardation syndrome 10.0
35 hydrocephalus 10.0
36 nephrocalcinosis 10.0
37 dysgerminoma 10.0
38 malignant hyperthermia 10.0
39 tracheobronchomalacia 10.0
40 isolated pierre robin sequence 10.0
41 bone deterioration disease 10.0 SOX9 COL2A1
42 frasier syndrome 10.0 SRY SOX9
43 bone structure disease 10.0 SOX9 COL2A1
44 bone development disease 9.9 SOX9 COL2A1
45 alpha thalassemia-intellectual disability syndrome type 1 9.8 SOX9 SOX8 SOX10
46 bone inflammation disease 9.7 SOX9 COL2A1

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



Diseases related to Campomelic Dysplasia

Symptoms & Phenotypes for Campomelic Dysplasia

Human phenotypes related to Campomelic Dysplasia:

60 33 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
4 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
5 hypoplastic inferior ilia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008821
6 laryngomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001601
7 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
8 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
9 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
10 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
11 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
12 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
13 11 pairs of ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000878
14 tracheobronchomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002786
15 tibial bowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002982
16 fibular hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003038
17 small abnormally formed scapulae 60 33 hallmark (90%) Very frequent (99-80%) HP:0006584
18 poorly ossified cervical vertebrae 60 33 hallmark (90%) Very frequent (99-80%) HP:0008477
19 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
20 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
21 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
22 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
23 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
24 skin dimples 60 33 frequent (33%) Frequent (79-30%) HP:0010781
25 male pseudohermaphroditism 60 33 frequent (33%) Frequent (79-30%) HP:0000037
26 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
27 femoral bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002980
28 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
29 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
30 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
31 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
32 abnormality of the sense of smell 60 33 occasional (7.5%) Occasional (29-5%) HP:0004408
33 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
34 hypoplasia of olfactory tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0007036
35 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
36 hydrocephalus 33 HP:0000238
37 muscular hypotonia 33 HP:0001252
38 failure to thrive 33 HP:0001508
39 bowing of the long bones 60 Very frequent (99-80%)
40 malformation of the heart and great vessels 60 Occasional (29-5%)
41 respiratory distress 33 HP:0002098
42 short long bone 60 Very frequent (99-80%)
43 apnea 33 HP:0002104
44 kyphoscoliosis 33 HP:0002751
45 depressed nasal ridge 33 HP:0000457
46 thin ribs 33 HP:0000883
47 hypoplastic iliac wing 33 HP:0002866
48 polyhydramnios 33 HP:0001561
49 high forehead 33 HP:0000348
50 blepharophimosis 33 HP:0000581

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
large anterior fontanel

Head And Neck Ears:
low-set ears
hearing loss

Head And Neck Mouth:
cleft palate

Respiratory Lung:
respiratory distress
apnea

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

Genitourinary Kidneys:
hydronephrosis

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 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
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest Ribs Sternum 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

UMLS symptoms related to Campomelic Dysplasia:


respiratory distress, apnea

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.87 COL2A1 KCNJ2 SOX10 SOX5 SOX8 SOX9
2 digestive/alimentary MP:0005381 9.77 COL2A1 KCNJ2 SOX10 SOX5 SOX9
3 limbs/digits/tail MP:0005371 9.73 COL2A1 SOX10 SOX5 SOX8 SOX9 TBX4
4 normal MP:0002873 9.55 COL2A1 SOX10 SOX5 SOX9 TBX4
5 respiratory system MP:0005388 9.35 COL2A1 KCNJ2 SOX10 SOX5 SOX9
6 skeleton MP:0005390 9.1 COL2A1 KCNJ2 SOX5 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 30 SOX9
2 Campomelic Dysplasia with Autosomal Sex Reversal 30
3 Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 30

Anatomical Context for Campomelic Dysplasia

MalaCards organs/tissues related to Campomelic Dysplasia:

42
Bone, Eye, Heart, Skin, Testes, Pancreas, Testis

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

20
Tibia Or

Publications for Campomelic Dysplasia

Articles related to Campomelic Dysplasia:

(show top 50) (show all 121)
# Title Authors Year
1
Familial campomelic dysplasia due to maternal germinal mosaicism. ( 29542186 )
2018
2
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of <i>SOX9</i>. ( 29695406 )
2018
3
When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism. ( 30196970 )
2018
4
Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report. ( 30662210 )
2018
5
Absent pedicles in campomelic dysplasia. ( 28447148 )
2017
6
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. ( 28546996 )
2017
7
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. ( 27833291 )
2016
8
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. ( 26602066 )
2016
9
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
10
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. ( 26631621 )
2016
11
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. ( 26740947 )
2015
12
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. ( 25940622 )
2015
13
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. ( 25983619 )
2015
14
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. ( 26078652 )
2014
15
Novel c.358C&amp;gt;T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. ( 24451061 )
2014
16
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. ( 24907458 )
2014
17
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. ( 24821304 )
2014
18
Campomelic dysplasia. ( 24800790 )
2014
19
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. ( 23564514 )
2014
20
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. ( 25041778 )
2014
21
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
22
Clinical Utility Gene Card for: campomelic dysplasia. ( 23047745 )
2013
23
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. ( 24038782 )
2013
24
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. ( 23551858 )
2013
25
Acampomelic campomelic dysplasia in genetic male without sex reversal. ( 22202956 )
2012
26
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. ( 21962881 )
2012
27
Mild Campomelic Dysplasia: Report on a Case and Review. ( 21373255 )
2011
28
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. ( 21614988 )
2011
29
Campomelic dysplasia. ( 22346005 )
2011
30
Campomelic dysplasia and malignant hyperthermia. ( 22691592 )
2011
31
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. ( 22097155 )
2011
32
A case of campomelic dysplasia without sex reversal. ( 21218044 )
2011
33
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. ( 20812307 )
2010
34
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. ( 20453475 )
2010
35
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. ( 20513132 )
2010
36
Campomelic dysplasia: a rare cause of congenital spinal deformity. ( 20199862 )
2010
37
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. ( 21284335 )
2010
38
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. ( 19231556 )
2009
39
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. ( 19253311 )
2009
40
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
41
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. ( 19449405 )
2009
42
Campomelic dysplasia: case report and review. ( 18165831 )
2008
43
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. ( 19033726 )
2008
44
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. ( 17204049 )
2007
45
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. ( 17352389 )
2007
46
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. ( 16586480 )
2006
47
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. ( 17185244 )
2006
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
The mildest form of campomelic dysplasia. ( 15578585 )
2005
50
Differentiating campomelic dysplasia from Cumming syndrome. ( 15754354 )
2005

Variations for Campomelic Dysplasia

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

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 SOX9 p.Pro108Leu VAR_003735
2 SOX9 p.Phe112Leu VAR_003736 rs140766725
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 rs113169155
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 top 50) (show all 163)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX9 NM_000346.3(SOX9): c.519G> A (p.Lys173=) single nucleotide variant Conflicting interpretations of pathogenicity rs202115157 GRCh37 Chromosome 17, 70118947: 70118947
2 SOX9 NM_000346.3(SOX9): c.519G> A (p.Lys173=) single nucleotide variant Conflicting interpretations of pathogenicity rs202115157 GRCh38 Chromosome 17, 72122806: 72122806
3 SOX9 NM_000346.3(SOX9): c.685+8G> A single nucleotide variant Benign/Likely benign rs117696751 GRCh37 Chromosome 17, 70119121: 70119121
4 SOX9 NM_000346.3(SOX9): c.685+8G> A single nucleotide variant Benign/Likely benign rs117696751 GRCh38 Chromosome 17, 72122980: 72122980
5 SOX9 NM_000346.3(SOX9): c.1113G> A (p.Ala371=) single nucleotide variant Benign rs929651 GRCh37 Chromosome 17, 70120111: 70120111
6 SOX9 NM_000346.3(SOX9): c.1113G> A (p.Ala371=) single nucleotide variant Benign rs929651 GRCh38 Chromosome 17, 72123970: 72123970
7 SOX9 SOX9, 583C-T single nucleotide variant Pathogenic
8 SOX9 SOX9, 1-BP INS, 783G insertion Pathogenic
9 SOX9 SOX9, 4-BP INS insertion Pathogenic
10 SOX9 NM_000346.3(SOX9): c.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh37 Chromosome 17, 70119734: 70119734
11 SOX9 NM_000346.3(SOX9): c.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh38 Chromosome 17, 72123593: 72123593
12 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
13 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh38 Chromosome 17, 72124177: 72124177
14 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh37 Chromosome 17, 70118945: 70118945
15 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh38 Chromosome 17, 72122804: 72122804
16 SOX9 SOX9, 1-BP DEL, 296G deletion Pathogenic
17 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh37 Chromosome 17, 70118921: 70118921
18 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh38 Chromosome 17, 72122780: 72122780
19 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh37 Chromosome 17, 70117759: 70117759
20 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh38 Chromosome 17, 72121618: 72121618
21 SOX9 SOX9, 30-BP DEL deletion Pathogenic
22 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh37 Chromosome 17, 70118890: 70118890
23 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh38 Chromosome 17, 72122749: 72122749
24 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh37 Chromosome 17, 70118900: 70118900
25 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh38 Chromosome 17, 72122759: 72122759
26 SOX9 SOX9, 1-BP INS, 1103A insertion Pathogenic
27 SOX9 NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
28 SOX9 NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh38 Chromosome 17, 72124177: 72124177
29 SOX9 NM_000346.3(SOX9): c.507C> T (p.His169=) single nucleotide variant Benign rs2229989 GRCh37 Chromosome 17, 70118935: 70118935
30 SOX9 NM_000346.3(SOX9): c.507C> T (p.His169=) single nucleotide variant Benign rs2229989 GRCh38 Chromosome 17, 72122794: 72122794
31 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic NCBI36 Chromosome 17, 66151316: 67111510
32 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic GRCh37 Chromosome 17, 68639721: 69599915
33 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic GRCh38 Chromosome 17, 70643580: 71603774
34 SOX9 NM_000346.3(SOX9): c.507C> G (p.His169Gln) single nucleotide variant Uncertain significance rs2229989 GRCh38 Chromosome 17, 72122794: 72122794
35 SOX9 NM_000346.3(SOX9): c.507C> G (p.His169Gln) single nucleotide variant Uncertain significance rs2229989 GRCh37 Chromosome 17, 70118935: 70118935
36 SOX9 NM_000346.3(SOX9): c.531G> A (p.Arg177=) single nucleotide variant Conflicting interpretations of pathogenicity rs144824678 GRCh37 Chromosome 17, 70118959: 70118959
37 SOX9 NM_000346.3(SOX9): c.531G> A (p.Arg177=) single nucleotide variant Conflicting interpretations of pathogenicity rs144824678 GRCh38 Chromosome 17, 72122818: 72122818
38 SOX9 NM_000346.3(SOX9): c.-284G> A single nucleotide variant Uncertain significance rs773395160 GRCh38 Chromosome 17, 72121108: 72121108
39 SOX9 NM_000346.3(SOX9): c.-284G> A single nucleotide variant Uncertain significance rs773395160 GRCh37 Chromosome 17, 70117249: 70117249
40 SOX9 NM_000346.3(SOX9): c.-219C> T single nucleotide variant Uncertain significance rs886053348 GRCh38 Chromosome 17, 72121173: 72121173
41 SOX9 NM_000346.3(SOX9): c.-219C> T single nucleotide variant Uncertain significance rs886053348 GRCh37 Chromosome 17, 70117314: 70117314
42 SOX9 NM_000346.3(SOX9): c.-203C> G single nucleotide variant Uncertain significance rs886053349 GRCh38 Chromosome 17, 72121189: 72121189
43 SOX9 NM_000346.3(SOX9): c.-203C> G single nucleotide variant Uncertain significance rs886053349 GRCh37 Chromosome 17, 70117330: 70117330
44 SOX9 NM_000346.3(SOX9): c.393C> T (p.His131=) single nucleotide variant Uncertain significance rs886053350 GRCh38 Chromosome 17, 72121784: 72121784
45 SOX9 NM_000346.3(SOX9): c.393C> T (p.His131=) single nucleotide variant Uncertain significance rs886053350 GRCh37 Chromosome 17, 70117925: 70117925
46 SOX9 NM_000346.3(SOX9): c.986C> T (p.Ala329Val) single nucleotide variant Uncertain significance rs886053351 GRCh38 Chromosome 17, 72123843: 72123843
47 SOX9 NM_000346.3(SOX9): c.986C> T (p.Ala329Val) single nucleotide variant Uncertain significance rs886053351 GRCh37 Chromosome 17, 70119984: 70119984
48 SOX9 NM_000346.3(SOX9): c.1029_1031dupGCC (p.Pro346_Gln347insPro) duplication Uncertain significance rs776337541 GRCh38 Chromosome 17, 72123886: 72123888
49 SOX9 NM_000346.3(SOX9): c.1029_1031dupGCC (p.Pro346_Gln347insPro) duplication Uncertain significance rs776337541 GRCh37 Chromosome 17, 70120027: 70120029
50 SOX9 NM_000346.3(SOX9): c.*248A> G single nucleotide variant Likely benign rs141946815 GRCh38 Chromosome 17, 72124635: 72124635

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 10.94 COL2A1 SOX5 SOX9
2 10.93 COL2A1 SOX10 SOX5 SOX9
3 10.79 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 8.8 SOX8 SOX9 SRY

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.96 SOX10 SOX8 SOX9 SRY
2 negative regulation of transcription, DNA-templated GO:0045892 9.95 SOX10 SOX5 SOX8 SOX9
3 cell fate commitment GO:0045165 9.7 SOX5 SOX8 SOX9
4 retina development in camera-type eye GO:0060041 9.69 SOX8 SOX9
5 cellular response to transforming growth factor beta stimulus GO:0071560 9.69 SOX5 SOX9
6 neural crest cell migration GO:0001755 9.68 SOX10 SOX8
7 skeletal system morphogenesis GO:0048705 9.68 COL2A1 TBX4
8 chondrocyte differentiation GO:0002062 9.68 COL2A1 SOX9
9 potassium ion import across plasma membrane GO:1990573 9.68 KCNJ16 KCNJ2
10 cell maturation GO:0048469 9.67 SOX10 SOX8
11 cellular response to BMP stimulus GO:0071773 9.67 COL2A1 SOX9
12 peripheral nervous system development GO:0007422 9.66 SOX10 SOX8
13 negative regulation of myoblast differentiation GO:0045662 9.65 SOX8 SOX9
14 limb morphogenesis GO:0035108 9.65 COL2A1 TBX4
15 positive regulation of chondrocyte differentiation GO:0032332 9.64 SOX5 SOX9
16 tissue homeostasis GO:0001894 9.64 COL2A1 SOX9
17 cartilage condensation GO:0001502 9.63 COL2A1 SOX9
18 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 SOX8 SOX9
19 positive regulation of cartilage development GO:0061036 9.62 SOX5 SOX9
20 male sex determination GO:0030238 9.61 SOX9 SRY
21 enteric nervous system development GO:0048484 9.61 SOX10 SOX8
22 limb bud formation GO:0060174 9.6 COL2A1 SOX9
23 notochord development GO:0030903 9.59 COL2A1 SOX9
24 Sertoli cell development GO:0060009 9.58 SOX8 SOX9
25 positive regulation of male gonad development GO:2000020 9.58 SOX9 SRY
26 lacrimal gland development GO:0032808 9.57 SOX10 SOX9
27 otic vesicle development GO:0071599 9.56 COL2A1 SOX9
28 negative regulation of photoreceptor cell differentiation GO:0046533 9.55 SOX8 SOX9
29 anterior head development GO:0097065 9.54 COL2A1 SOX9
30 astrocyte fate commitment GO:0060018 9.51 SOX8 SOX9
31 metanephric nephron tubule formation GO:0072289 9.49 SOX8 SOX9
32 positive regulation of kidney development GO:0090184 9.48 SOX8 SOX9
33 positive regulation of mesenchymal stem cell differentiation GO:2000741 9.46 SOX5 SOX9
34 central nervous system development GO:0007417 9.46 COL2A1 SOX10 SOX8 SOX9
35 positive regulation of gliogenesis GO:0014015 9.43 SOX10 SOX8
36 oligodendrocyte differentiation GO:0048709 9.43 SOX10 SOX8 SOX9
37 renal vesicle induction GO:0072034 9.4 SOX8 SOX9
38 retinal rod cell differentiation GO:0060221 9.37 SOX8 SOX9
39 ureter morphogenesis GO:0072197 9.32 SOX8 SOX9
40 morphogenesis of a branching epithelium GO:0061138 9.13 SOX10 SOX8 SOX9
41 morphogenesis of an epithelium GO:0002009 8.92 SOX10 SOX8 SOX9 TBX4
42 regulation of transcription, DNA-templated GO:0006355 10.07 SOX10 SOX8 SOX9 SRY TBX4
43 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 SOX10 SOX5 SOX8 SOX9 SRY

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 SOX10 SOX5 SOX8 SOX9 SRY TBX4
2 transcription factor binding GO:0008134 9.58 SOX10 SOX8 SRY
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 SOX10 SOX8 SOX9
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 SOX10 SOX5 SOX8 SOX9 SRY TBX4
5 inward rectifier potassium channel activity GO:0005242 9.26 KCNJ16 KCNJ2
6 G-protein activated inward rectifier potassium channel activity GO:0015467 9.16 KCNJ16 KCNJ2
7 DNA-binding transcription factor activity GO:0003700 9.1 SOX10 SOX5 SOX8 SOX9 SRY TBX4

Sources for Campomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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