CMD1
MCID: CMP005
MIFTS: 63

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 56 12 74 24 52 25 58 73 36 54 43 15 71
Acampomelic Campomelic Dysplasia 56 12 73 13 6 71
Camptomelic Dysplasia 24 25 73 29 6
Campomelic Dysplasia with Autosomal Sex Reversal 56 73 29 6
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 73 29 6
Campomelic Dwarfism 24 25 58
Cmpd1/sra1 56 52 73
Cmpd1 56 52 73
Cmpd 56 52 73
Cmd1 56 52 73
Campomelic Syndrome 24 25
Chronic Myeloproliferative Disorder 71
Familial Dilated Cardiomyopathy 71
Dysplasia, Campomelic 39
Camptomelic Dwarfism 24
Cmd1; Cmpd1 56

Characteristics:

Orphanet epidemiological data:

58
campomelic dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
majority die in neonatal period secondary to respiratory insufficiency


HPO:

31
campomelic dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Pathogenic variants in the sox9 coding region are completely penetrant....

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Campomelic Dysplasia

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. The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries. Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia. Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.

MalaCards based summary : Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to 46,xy sex reversal 1 and tracheomalacia, and has symptoms including respiratory distress and apnea. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box Transcription Factor 9), and among its related pathways/superpathways are Spinal Cord Injury and Neural Crest Differentiation. The drugs Perindopril and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include tibia, femur and bone, 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported.

UniProtKB/Swiss-Prot : 73 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 : 74 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 in the Campomelic Dysplasia family:

Campomelic Dysplasia and Related Disorders

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 1 30.8 SRY SOX9
2 tracheomalacia 30.4 TBX4 SOX9 COL2A1
3 scoliosis 29.8 SOX9 SOX5 KCNJ2 COL2A1 ACAN
4 odontochondrodysplasia 29.3 SOX9 SOX6 SOX5 COL2A1 COL11A2 ACAN
5 campomelic dysplasia and related disorders 12.3
6 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.0
7 isolated pierre robin sequence 11.7
8 46 xy gonadal dysgenesis 11.7
9 cardiomyopathy, dilated, 1e 11.6
10 cardiomyopathy, dilated, 1b 11.4
11 atelosteogenesis, type i 11.3
12 boomerang dysplasia 11.3
13 myeloproliferative neoplasm 11.3
14 myeloproliferative disorder, chronic, with eosinophilia 11.2
15 cleft palate, isolated 10.5
16 46,xy partial gonadal dysgenesis 10.4 SRY SOX9
17 myelofibrosis 10.4
18 pierre robin syndrome 10.4
19 respiratory failure 10.4
20 dwarfism 10.4
21 gonadal dysgenesis 10.4
22 polycythemia vera 10.4
23 chronic neutrophilic leukemia 10.4
24 chronic eosinophilic leukemia 10.4
25 essential thrombocythemia 10.4
26 polycythemia 10.4
27 hypereosinophilic syndrome 10.4
28 synovial chondromatosis 10.4 SOX9 COL2A1
29 46,xx sex reversal 1 10.4 SRY SOX9
30 tracheal disease 10.3 TBX4 SOX9 COL2A1
31 chromosomal triplication 10.3
32 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.2 SOX9 SOX8 SOX10
33 gastric cancer 10.2
34 glioblastoma multiforme 10.2
35 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
36 gonadoblastoma 10.2
37 brachydactyly 10.2
38 hydrocephalus 10.2
39 clubfoot 10.2
40 hermaphroditism 10.2
41 skeletal dysplasias 10.2
42 tracheobronchomalacia 10.2
43 chondrodysplasia, grebe type 10.2 SOX5 COL2A1
44 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.2 COL2A1 COL11A2
45 otospondylomegaepiphyseal dysplasia 10.2 COL2A1 COL11A2
46 kohler's disease 10.2 COL2A1 COL11A2
47 thyrotoxic periodic paralysis 10.2 KCNJ2 KCNJ16
48 camptomelic syndrome, long-limb type 10.2
49 vitreous syneresis 10.2 COL2A1 COL11A2
50 mixed gonadal dysgenesis 10.1 SRY SOX9

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:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
5 hypoplastic inferior ilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008821
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
8 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
9 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
10 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
11 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
12 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
13 11 pairs of ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000878
14 tracheobronchomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002786
15 tibial bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002982
16 fibular hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003038
17 small abnormally formed scapulae 58 31 hallmark (90%) Very frequent (99-80%) HP:0006584
18 poorly ossified cervical vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0008477
19 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
20 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
21 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
22 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
23 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
24 male pseudohermaphroditism 58 31 frequent (33%) Frequent (79-30%) HP:0000037
25 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
26 femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002980
27 skin dimple 31 frequent (33%) HP:0010781
28 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
29 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
30 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
31 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
32 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
33 abnormality of the sense of smell 58 31 occasional (7.5%) Occasional (29-5%) HP:0004408
34 hypoplasia of olfactory tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0007036
35 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
36 failure to thrive 31 HP:0001508
37 hydrocephalus 31 HP:0000238
38 muscular hypotonia 31 HP:0001252
39 bowing of the long bones 58 Very frequent (99-80%)
40 polyhydramnios 31 HP:0001561
41 generalized hypotonia 31 HP:0001290
42 malformation of the heart and great vessels 58 Occasional (29-5%)
43 respiratory distress 31 HP:0002098
44 short long bone 58 Very frequent (99-80%)
45 apnea 31 HP:0002104
46 kyphoscoliosis 31 HP:0002751
47 depressed nasal ridge 31 HP:0000457
48 thin ribs 31 HP:0000883
49 hypoplastic iliac wing 31 HP:0002866
50 high forehead 31 HP:0000348

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
large anterior fontanel

Head And Neck Ears:
low-set ears
hearing loss

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

Head And Neck Mouth:
cleft palate

Skeletal Limbs:
talipes equinovarus
short phalanges both hands and feet
anterior bowing of tibia
short fibula
mildly bowed femur
more
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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Respiratory Lung:
respiratory distress
apnea

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

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.23 SRY
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.23 SRY
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.23 SOX10 SRY TBX4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.23 SOX10
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.23 SRY
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.23 SOX10

MGI Mouse Phenotypes related to Campomelic Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.17 COL2A1 SOX10 SOX5 SOX6 SOX8 SOX9

Drugs & Therapeutics for Campomelic Dysplasia

Drugs for Campomelic Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perindopril Approved Phase 3 107133-36-8, 82834-16-0 107807
2
tannic acid Approved Phase 3 1401-55-4
3
Hydroxyurea Approved Phase 3 127-07-1 3657
4
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
5
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
6
Iron Approved, Experimental Phase 3 7439-89-6, 15438-31-0 23925 27284
7 Antihypertensive Agents Phase 3
8
protease inhibitors Phase 3
9 HIV Protease Inhibitors Phase 3
10 Angiotensin-Converting Enzyme Inhibitors Phase 3
11 Imatinib Mesylate Phase 2 220127-57-1 123596
12
Dasatinib Approved, Investigational 302962-49-8 3062316
13 Protein Kinase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive Effect of ACE Inhibitor Perindopril)on the Onset or Progression of Left Ventricular Dysfoction in Subjects at a Preclinical Stage From Families With Dilated Cardiomyopathy Terminated NCT01583114 Phase 3 perindopril;placebo
2 A Large-scale Trial Testing the Intensity of CYTOreductive Therapy to Prevent Cardiovascular Events In Patients With Polycythemia Vera (PV) Terminated NCT01645124 Phase 3 Hydroxyurea
3 Open Label Pilot Phase II Study of STI571 in the Treatment of Patients With Idiopathic Hypereosinophilic Syndrome (HES) and Eosinophilic Leukemias Unknown status NCT00276926 Phase 2 STI571
4 A Case Control Study of the Prevalence of Pulmonary Hypertension in Patients With Myeloproliferative Diseases, and Correlation Between Patients Epidemiologic and Clinical Status and the Development of Pulmonary Hypertension. Unknown status NCT01884974
5 Sub-project: Use of Small Implantable ECG Recorder in Pregnant Women With Arrhythmia Unknown status NCT02249195
6 Mapping Novel Disease Genes for Dilated Cardiomyopathy Completed NCT00046618
7 Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a of the KNHI Associated to the DZHK Completed NCT03090425
8 Screening for Pulmonary Vascular Changes in Patients With Chronic Myeloproliferative Diseases Completed NCT01787162
9 Pulmonary Vascular Changes in Patients With Chronic Myeloid Leukemia With Second-line Therapy Dasatinib vs. Nilotinib Completed NCT01805843
10 Care Managers for Perinatal Depression (CMPD) Completed NCT01773629

Search 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 29 SOX9
2 Campomelic Dysplasia with Autosomal Sex Reversal 29
3 Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 29

Anatomical Context for Campomelic Dysplasia

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

19
Tibia, Femur

MalaCards organs/tissues related to Campomelic Dysplasia:

40
Bone, Eye, Skin, Testes, Spinal Cord, Ovary, Tongue

Publications for Campomelic Dysplasia

Articles related to Campomelic Dysplasia:

(show top 50) (show all 270)
# Title Authors PMID Year
1
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. 54 61 24 56 6
19449405 2009
2
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. 54 61 24 56 6
15806394 2005
3
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. 54 61 24 56 6
9002675 1997
4
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. 54 61 24 56 6
8001137 1994
5
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. 54 61 56 6
7485151 1995
6
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. 54 61 56 6
7990924 1994
7
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. 61 56 6
24038782 2013
8
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. 54 61 24 56
17352389 2007
9
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. 54 61 24 56
17204049 2007
10
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. 54 61 24 56
15726498 2005
11
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. 54 61 24 6
12783851 2003
12
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. 54 61 24 56
10364523 1999
13
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. 54 61 24 6
8894698 1996
14
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. 61 56 6
1809232 1991
15
The phenotype of survivors of campomelic dysplasia. 61 24 56
12161603 2002
16
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation. 54 61 6
11323423 2001
17
Acampomelic campomelic dysplasia with SOX9 mutation. 54 61 6
10951468 2000
18
Campomelic syndrome and deletion of SOX9. 24 56
10213041 1999
19
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. 54 61 24
20513132 2010
20
Long-range regulation at the SOX9 locus in development and disease. 54 61 24
19473998 2009
21
Campomelic Dysplasia 61 6
20301724 2008
22
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. 61 6
19033726 2008
23
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. 54 61 24
17551083 2007
24
Differentiating campomelic dysplasia from Cumming syndrome. 61 56
15754354 2005
25
Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. 54 61 24
12837698 2003
26
A case of acampomelic campomelic dysplasia. 61 56
12017234 2002
27
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. 61 56
11371614 2001
28
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. 54 61 24
10446171 1999
29
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. 61 56
9678706 1998
30
Acampomelic campomelic dysplasia: further radiographic variations. 61 56
9066880 1997
31
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. 61 56
8789441 1996
32
A clinical and genetic study of campomelic dysplasia. 61 56
7666392 1995
33
Campomelic dysplasia: evidence of autosomal dominant inheritance. 61 56
8411055 1993
34
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. 61 56
8348155 1993
35
Campomelic dysplasia without overt campomelia. 61 56
1342867 1992
36
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. 61 56
1583645 1992
37
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. 61 56
1677832 1991
38
Acampomelic campomelic dysplasia. 61 56
2602025 1989
39
Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case. 61 56
4069773 1985
40
Sex-reversed XY females with campomelic dysplasia are H-Y negative. 61 56
7196380 1981
41
Absence of H-Y antigen in an XY female with campomelic dysplasia. 61 56
7196381 1981
42
[Genetic counseling in campomelic dysplasia (apropos of 2 cases)]. 61 56
7463027 1980
43
Campomelic dysplasia. Further elucidation of a distinct entity. 61 56
7361736 1980
44
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. 61 24
22529047 2012
45
Unraveling the transcriptional regulatory machinery in chondrogenesis. 61 24
21594584 2011
46
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. 61 24
21408189 2011
47
Mild Campomelic Dysplasia: Report on a Case and Review. 61 24
21373255 2011
48
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 61 24
20812307 2010
49
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. 61 24
20453475 2010
50
Prenatal sonographic diagnosis of skeletal dysplasias. 61 24
19548204 2009

Variations for Campomelic Dysplasia

ClinVar genetic disease variations for Campomelic Dysplasia:

6 (show top 50) (show all 89) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX9 NM_000346.4(SOX9):c.583C>T (p.Gln195Ter)SNV Pathogenic 2506 17:70119011-70119011 17:72122870-72122870
2 SOX9 NM_000346.4(SOX9):c.788dup (p.Arg264fs)duplication Pathogenic 2507 17:70119780-70119781 17:72123639-72123640
3 SOX9 SOX9, 4-BP INSinsertion Pathogenic 2508
4 SOX9 NM_000346.4(SOX9):c.736dup (p.Gln246fs)duplication Pathogenic 2509 rs587776541 17:70119733-70119734 17:72123592-72123593
5 SOX9 NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter)SNV Pathogenic 2510 rs80338688 17:70120318-70120318 17:72124177-72124177
6 SOX9 NM_000346.4(SOX9):c.517A>G (p.Lys173Glu)SNV Pathogenic 2511 rs104894647 17:70118945-70118945 17:72122804-72122804
7 SOX9 NM_000346.4(SOX9):c.296del (p.Ser99fs)deletion Pathogenic 2512 17:70117828-70117828 17:72121687-72121687
8 SOX9 NM_000346.4(SOX9):c.493C>T (p.His165Tyr)SNV Pathogenic 2513 rs28940282 17:70118921-70118921 17:72122780-72122780
9 SOX9 NM_000346.4(SOX9):c.227C>A (p.Ala76Glu)SNV Pathogenic 2514 rs137853128 17:70117759-70117759 17:72121618-72121618
10 SOX9 SOX9, 30-BP DELdeletion Pathogenic 2515
11 SOX9 NM_000346.4(SOX9):c.462C>G (p.Phe154Leu)SNV Pathogenic 2516 rs137853129 17:70118890-70118890 17:72122749-72122749
12 SOX9 NM_000346.4(SOX9):c.472G>A (p.Ala158Thr)SNV Pathogenic 2517 rs137853130 17:70118900-70118900 17:72122759-72122759
13 SOX9 NM_000346.4(SOX9):c.1103dup (p.Gln369fs)duplication Pathogenic 2518 17:70120100-70120101 17:72123959-72123960
14 SOX9 NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter)SNV Pathogenic 21163 rs80338688 17:70120318-70120318 17:72124177-72124177
15 SOX9 NC_000017.10:g.(?_68639721)_(69599915_?)deldeletion Pathogenic 39777 17:68639721-69599915 17:70643580-71603774
16 SOX9 NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter)SNV Pathogenic 373101 rs1057518216 17:70120178-70120178 17:72124037-72124037
17 SOX9 NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter)SNV Pathogenic 468239 rs1555629022 17:70117784-70117784 17:72121643-72121643
18 SOX9 NM_000346.4(SOX9):c.349C>T (p.Gln117Ter)SNV Pathogenic 468240 rs1555629037 17:70117881-70117881 17:72121740-72121740
19 SOX9 NM_000346.4(SOX9):c.1372C>T (p.Gln458Ter)SNV Pathogenic 488604 rs1555629443 17:70120370-70120370 17:72124229-72124229
20 SOX9 NM_000346.4(SOX9):c.491A>C (p.Gln164Pro)SNV Pathogenic 617626 rs1567910689 17:70118919-70118919 17:72122778-72122778
21 SOX9 NM_000346.4(SOX9):c.196G>T (p.Glu66Ter)SNV Pathogenic 692026 17:70117728-70117728 17:72121587-72121587
22 SOX9 NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter)SNV Pathogenic 692092 17:70119955-70119955 17:72123814-72123814
23 SOX9 NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter)SNV Pathogenic 692094 17:70120175-70120175 17:72124034-72124034
24 SOX9 NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter)SNV Pathogenic 692093 17:70120232-70120232 17:72124091-72124091
25 SOX9 NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)SNV Pathogenic/Likely pathogenic 559879 rs866706988 17:70118936-70118936 17:72122795-72122795
26 FRS3 , MDFI , PGC , TFEB t(6;17)(p21.1;q24.3)Translocation Likely pathogenic 518451 17:67666390-67762983
27 SOX9 NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys)SNV Likely pathogenic 488603 rs1555629158 17:70118943-70118943 17:72122802-72122802
28 SOX9 NM_000346.4(SOX9):c.1427T>C (p.Met476Thr)SNV Likely pathogenic 374384 rs1057518669 17:70120425-70120425 17:72124284-72124284
29 SOX9 NM_000346.4(SOX9):c.519G>A (p.Lys173=)SNV Conflicting interpretations of pathogenicity 195066 rs202115157 17:70118947-70118947 17:72122806-72122806
30 SOX9 NM_000346.4(SOX9):c.531G>A (p.Arg177=)SNV Conflicting interpretations of pathogenicity 287629 rs144824678 17:70118959-70118959 17:72122818-72122818
31 SOX9 NM_000346.4(SOX9):c.1023_1025GCC[4] (p.Pro346dup)short repeat Conflicting interpretations of pathogenicity 324918 rs776337541 17:70120019-70120020 17:72123878-72123879
32 SOX9 NM_000346.4(SOX9):c.717C>T (p.Thr239=)SNV Conflicting interpretations of pathogenicity 324913 rs370713128 17:70119715-70119715 17:72123574-72123574
33 SOX9 NM_000346.4(SOX9):c.27G>A (p.Lys9=)SNV Uncertain significance 324910 rs747794183 17:70117559-70117559 17:72121418-72121418
34 SOX9 NM_000346.4(SOX9):c.*495T>GSNV Uncertain significance 324928 rs768441389 17:70121023-70121023 17:72124882-72124882
35 SOX9 NM_000346.4(SOX9):c.*744dupduplication Uncertain significance 324929 rs572140615 17:70121263-70121264 17:72125122-72125123
36 SOX9 NM_000346.4(SOX9):c.-83G>TSNV Uncertain significance 324908 rs116826102 17:70117450-70117450 17:72121309-72121309
37 SOX9 NM_000346.4(SOX9):c.*1005C>TSNV Uncertain significance 324936 rs886053357 17:70121533-70121533 17:72125392-72125392
38 SOX9 NM_000346.4(SOX9):c.*1523_*1528deldeletion Uncertain significance 324942 rs886053362 17:70122046-70122051 17:72125905-72125910
39 SOX9 NM_000346.4(SOX9):c.*1988_*1989deldeletion Uncertain significance 324950 rs11448561 17:70122506-70122507 17:72126365-72126366
40 SOX9 NM_000346.4(SOX9):c.-284G>ASNV Uncertain significance 324899 rs773395160 17:70117249-70117249 17:72121108-72121108
41 SOX9 NM_000346.4(SOX9):c.-219C>TSNV Uncertain significance 324900 rs886053348 17:70117314-70117314 17:72121173-72121173
42 SOX9 NM_000346.4(SOX9):c.-203C>GSNV Uncertain significance 324901 rs886053349 17:70117330-70117330 17:72121189-72121189
43 SOX9 NM_000346.4(SOX9):c.393C>T (p.His131=)SNV Uncertain significance 324912 rs886053350 17:70117925-70117925 17:72121784-72121784
44 SOX9 NM_000346.4(SOX9):c.986C>T (p.Ala329Val)SNV Uncertain significance 324916 rs886053351 17:70119984-70119984 17:72123843-72123843
45 SOX9 NM_000346.4(SOX9):c.507C>G (p.His169Gln)SNV Uncertain significance 235914 rs2229989 17:70118935-70118935 17:72122794-72122794
46 SOX9 NM_000346.4(SOX9):c.965G>A (p.Ser322Asn)SNV Uncertain significance 450200 rs1239456905 17:70119963-70119963 17:72123822-72123822
47 SOX9 NM_000346.4(SOX9):c.654G>A (p.Met218Ile)SNV Uncertain significance 536130 rs747366415 17:70119082-70119082 17:72122941-72122941
48 SOX9 NM_000346.4(SOX9):c.*906T>GSNV Uncertain significance 324932 rs886053355 17:70121434-70121434 17:72125293-72125293
49 SOX9 NM_000346.4(SOX9):c.*1014C>GSNV Uncertain significance 324937 rs886053358 17:70121542-70121542 17:72125401-72125401
50 SOX9 NM_000346.4(SOX9):c.*1140A>TSNV Uncertain significance 324938 rs886053359 17:70121668-70121668 17:72125527-72125527

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

73 (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

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 11.51 SOX9 COL2A1 ACAN
2 11.36 SOX9 SOX5 SOX10 COL2A1 COL11A2
3 10.97 SRY SOX9 SOX6
4 10.83 SOX9 SOX6 SOX5 COL2A1 ACAN

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 chromatin GO:0000790 9.5 TBX4 SRY SOX9 SOX8 SOX6 SOX5
2 nuclear transcription factor complex GO:0044798 8.8 SRY SOX9 SOX8

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.22 TBX4 SRY SOX9 SOX8 SOX6 SOX5
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.18 TBX4 SRY SOX9 SOX8 SOX6 SOX5
3 positive regulation of transcription, DNA-templated GO:0045893 10.07 SRY SOX9 SOX8 SOX6 SOX10
4 negative regulation of transcription, DNA-templated GO:0045892 10.06 SOX9 SOX8 SOX6 SOX5 SOX10
5 extracellular matrix organization GO:0030198 9.95 SOX9 COL2A1 COL11A2 ACAN
6 skeletal system development GO:0001501 9.88 SOX9 COL2A1 COL11A2 ACAN
7 central nervous system development GO:0007417 9.86 SOX9 COL2A1 ACAN
8 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 SOX9 SOX6 SOX5
9 collagen fibril organization GO:0030199 9.77 COL2A1 COL11A2 ACAN
10 skeletal system morphogenesis GO:0048705 9.76 TBX4 COL2A1 COL11A2
11 chondrocyte differentiation GO:0002062 9.71 SOX9 COL2A1 COL11A2
12 cartilage development GO:0051216 9.71 SOX9 SOX6 COL2A1 COL11A2
13 limb morphogenesis GO:0035108 9.69 TBX4 COL2A1
14 negative regulation of myoblast differentiation GO:0045662 9.68 SOX9 SOX8
15 chondrocyte development GO:0002063 9.68 SOX9 ACAN
16 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.67 SOX9 SOX8
17 male sex determination GO:0030238 9.66 SRY SOX9
18 enteric nervous system development GO:0048484 9.66 SOX8 SOX10
19 limb bud formation GO:0060174 9.65 SOX9 COL2A1
20 Sertoli cell development GO:0060009 9.65 SOX9 SOX8
21 positive regulation of chondrocyte differentiation GO:0032332 9.65 SOX9 SOX6 SOX5
22 notochord development GO:0030903 9.64 SOX9 COL2A1
23 positive regulation of male gonad development GO:2000020 9.64 SRY SOX9
24 tissue homeostasis GO:0001894 9.63 SOX9 COL2A1 COL11A2
25 otic vesicle development GO:0071599 9.62 SOX9 COL2A1
26 lacrimal gland development GO:0032808 9.62 SOX9 SOX10
27 cell fate commitment GO:0045165 9.62 SOX9 SOX8 SOX6 SOX5
28 ureter morphogenesis GO:0072197 9.61 SOX9 SOX8
29 negative regulation of photoreceptor cell differentiation GO:0046533 9.61 SOX9 SOX8
30 cartilage condensation GO:0001502 9.61 SOX9 COL2A1 ACAN
31 anterior head development GO:0097065 9.59 SOX9 COL2A1
32 positive regulation of kidney development GO:0090184 9.57 SOX9 SOX8
33 metanephric nephron tubule formation GO:0072289 9.56 SOX9 SOX8
34 oligodendrocyte differentiation GO:0048709 9.56 SOX9 SOX8 SOX6 SOX10
35 astrocyte fate commitment GO:0060018 9.55 SOX9 SOX8
36 positive regulation of cartilage development GO:0061036 9.54 SOX9 SOX6 SOX5
37 renal vesicle induction GO:0072034 9.52 SOX9 SOX8
38 retinal rod cell differentiation GO:0060221 9.51 SOX9 SOX8
39 positive regulation of gliogenesis GO:0014015 9.49 SOX8 SOX10
40 positive regulation of mesenchymal stem cell differentiation GO:2000741 9.33 SOX9 SOX6 SOX5
41 morphogenesis of a branching epithelium GO:0061138 9.13 SOX9 SOX8 SOX10
42 morphogenesis of an epithelium GO:0002009 8.92 TBX4 SOX9 SOX8 SOX10

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, RNA polymerase II-specific GO:0000981 9.5 TBX4 SRY SOX9 SOX8 SOX6 SOX5
2 extracellular matrix structural constituent GO:0005201 9.43 COL2A1 COL11A2 ACAN
3 DNA-binding transcription factor activity GO:0003700 9.17 TBX4 SRY SOX9 SOX8 SOX6 SOX5
4 inward rectifier potassium channel activity GO:0005242 9.16 KCNJ2 KCNJ16

Sources for Campomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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