CMD1
MCID: CMP005
MIFTS: 65

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 57 12 76 24 53 25 59 75 37 55 44 15 73
Acampomelic Campomelic Dysplasia 57 12 75 13 6 73
Camptomelic Dysplasia 24 25 75 29 6
Campomelic Dysplasia with Autosomal Sex Reversal 57 75 29 6
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 75 29 6
Campomelic Dwarfism 24 25 59
Cmpd1/sra1 57 53 75
Cmpd1 57 53 75
Cmpd 57 53 75
Cmd1 57 53 75
Campomelic Syndrome 24 25
Chronic Myeloproliferative Disorder 73
Familial Dilated Cardiomyopathy 73
Dysplasia, Campomelic 40
Camptomelic Dwarfism 24
Cmd1; Cmpd1 57

Characteristics:

Orphanet epidemiological data:

59
campomelic dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
majority die in neonatal period secondary to respiratory insufficiency


HPO:

32
campomelic dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Campomelic Dysplasia

NIH Rare Diseases : 53 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 cardiomyopathy, dilated, 1e 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 Dilated cardiomyopathy (DCM) and Striated Muscle Contraction. Affiliated tissues include bone, eye and heart, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 An osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur.

Genetics Home Reference : 25 Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.

OMIM : 57 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 : 75 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 : 76 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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 31.9 TTN RBM20 LMNA
2 hermaphroditism 30.2 SOX9 SRY
3 pierre robin sequence with pectus excavatum and rib and scapular anomalies 11.5
4 cardiomyopathy, dilated, 1b 11.2
5 camptomelic syndrome, long-limb type 11.2
6 atelosteogenesis, type i 11.2
7 boomerang dysplasia 11.2
8 myeloproliferative neoplasm 11.2
9 myeloproliferative disorder, chronic, with eosinophilia 11.1
10 dwarfism 10.4
11 46,xy sex reversal 1 10.3 SRY SOX9
12 46,xy partial gonadal dysgenesis 10.2 SRY SOX9
13 gonadal dysgenesis 10.2
14 frasier syndrome 10.2 ZFY SRY SOX9
15 waardenburg syndrome, type 4b 10.2 SOX10 SRY
16 mixed gonadal dysgenesis 10.2 SOX9 SRY
17 46,xx sex reversal 1 10.2 SOX9 SRY
18 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TTN LMNA
19 paine syndrome 10.1
20 myelodysplastic syndrome 10.1
21 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 TTN LMNA
22 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 TTN LMNA
23 cardiomyopathy, familial hypertrophic, 4 10.1 MYBPC3 TTN
24 waardenburg syndrome, type 4a 10.0 SOX10 SRY
25 cardiomyopathy, familial hypertrophic, 1 10.0 MYBPC3 TTN MYH6
26 cleft palate, isolated 10.0
27 ischiocoxopodopatellar syndrome 10.0
28 campomelia, cumming type 10.0
29 pierre robin syndrome 10.0
30 gonadoblastoma 10.0
31 brittle bone disorder 10.0
32 alacrima, achalasia, and mental retardation syndrome 10.0
33 hydrocephalus 10.0
34 nephrocalcinosis 10.0
35 dysgerminoma 10.0
36 malignant hyperthermia 10.0
37 tracheobronchomalacia 10.0
38 isolated pierre robin sequence 10.0
39 sick sinus syndrome 10.0 TTN MYH6 LMNA
40 alpha thalassemia-intellectual disability syndrome type 1 10.0 SOX9 SOX8 SOX10
41 myofibrillar myopathy 10.0 TTN LMNA BAG3
42 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL2A1 COL11A2
43 otospondylomegaepiphyseal dysplasia 10.0 COL2A1 COL11A2
44 retinal perforation 9.9 COL2A1 COL11A2
45 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.9 COL2A1 COL11A2
46 atrial standstill 1 9.9 TTN MYH6 MYBPC3 LMNA
47 hypertrophic cardiomyopathy 9.9 TTN MYH6 MYBPC3 LMNA
48 muscular disease 9.9 TTN MYH6 LMNA BAG3
49 heart disease 9.8 TTN MYH6 MYBPC3 LMNA KCNJ2
50 left ventricular noncompaction 9.8 TTN MYH6 MYBPC3 LMNA BAG3

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:

57
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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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 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
Genitourinary Kidneys:
hydronephrosis

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

Human phenotypes related to Campomelic Dysplasia:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
5 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
9 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
10 hypoplastic inferior ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008821
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
13 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
14 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
15 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
16 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
17 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
18 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
19 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
20 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
21 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
22 skin dimples 59 32 frequent (33%) Frequent (79-30%) HP:0010781
23 abnormality of the sense of smell 59 32 occasional (7.5%) Occasional (29-5%) HP:0004408
24 male pseudohermaphroditism 59 32 frequent (33%) Frequent (79-30%) HP:0000037
25 ambiguous genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000062
26 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
27 femoral bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002980
28 11 pairs of ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000878
29 tracheobronchomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002786
30 tibial bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002982
31 fibular hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003038
32 small abnormally formed scapulae 59 32 hallmark (90%) Very frequent (99-80%) HP:0006584
33 hypoplasia of olfactory tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0007036
34 poorly ossified cervical vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0008477
35 hydrocephalus 32 HP:0000238
36 muscular hypotonia 32 HP:0001252
37 failure to thrive 32 HP:0001508
38 bowing of the long bones 59 Very frequent (99-80%)
39 malformation of the heart and great vessels 59 Occasional (29-5%)
40 respiratory distress 32 HP:0002098
41 short long bone 59 Very frequent (99-80%)
42 apnea 32 HP:0002104
43 depressed nasal ridge 32 HP:0000457
44 thin ribs 32 HP:0000883
45 hypoplastic iliac wing 32 HP:0002866
46 polyhydramnios 32 HP:0001561
47 high forehead 32 HP:0000348
48 blepharophimosis 32 HP:0000581
49 disproportionate short-limb short stature 32 HP:0008873
50 neonatal short-limb short stature 32 HP:0008921

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-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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 BAG3 COL2A1 KCNJ2 LMNA MYBPC3 MYH6
2 growth/size/body region MP:0005378 10.11 BAG3 COL11A2 COL2A1 KCNJ2 LMNA SOX10
3 homeostasis/metabolism MP:0005376 10.1 BAG3 COL2A1 KCNJ2 LMNA MYBPC3 MYH6
4 craniofacial MP:0005382 9.95 COL11A2 COL2A1 KCNJ2 LMNA SOX5 SOX9
5 limbs/digits/tail MP:0005371 9.8 COL2A1 LMNA SOX10 SOX5 SOX8 SOX9
6 muscle MP:0005369 9.76 BAG3 KCNJ2 LMNA MYBPC3 MYH6 RBM20
7 respiratory system MP:0005388 9.56 BAG3 COL2A1 KCNJ2 LMNA MYH6 SOX10
8 skeleton MP:0005390 9.28 COL11A2 COL2A1 KCNJ2 LMNA SOX5 SOX8

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

Anatomical Context for Campomelic Dysplasia

MalaCards organs/tissues related to Campomelic Dysplasia:

41
Bone, Eye, Heart, Testes, Skin, Myeloid, Bone Marrow

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

19
Tibia Or

Publications for Campomelic Dysplasia

Articles related to Campomelic Dysplasia:

(show top 50) (show all 120)
# 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
Absent pedicles in campomelic dysplasia. ( 28447148 )
2017
5
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. ( 28546996 )
2017
6
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. ( 27833291 )
2016
7
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. ( 26602066 )
2016
8
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
9
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. ( 26631621 )
2016
10
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. ( 26740947 )
2015
11
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. ( 25940622 )
2015
12
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. ( 25983619 )
2015
13
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. ( 26078652 )
2014
14
Novel c.358C&amp;gt;T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. ( 24451061 )
2014
15
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. ( 24907458 )
2014
16
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. ( 24821304 )
2014
17
Campomelic dysplasia. ( 24800790 )
2014
18
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. ( 23564514 )
2014
19
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. ( 25041778 )
2014
20
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
21
Clinical Utility Gene Card for: campomelic dysplasia. ( 23047745 )
2013
22
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. ( 24038782 )
2013
23
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. ( 23551858 )
2013
24
Acampomelic campomelic dysplasia in genetic male without sex reversal. ( 22202956 )
2012
25
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. ( 21962881 )
2012
26
Mild Campomelic Dysplasia: Report on a Case and Review. ( 21373255 )
2011
27
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. ( 21614988 )
2011
28
Campomelic dysplasia. ( 22346005 )
2011
29
Campomelic dysplasia and malignant hyperthermia. ( 22691592 )
2011
30
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. ( 22097155 )
2011
31
A case of campomelic dysplasia without sex reversal. ( 21218044 )
2011
32
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. ( 20812307 )
2010
33
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. ( 20453475 )
2010
34
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. ( 20513132 )
2010
35
Campomelic dysplasia: a rare cause of congenital spinal deformity. ( 20199862 )
2010
36
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. ( 21284335 )
2010
37
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. ( 19231556 )
2009
38
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. ( 19253311 )
2009
39
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
40
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. ( 19449405 )
2009
41
Campomelic dysplasia: case report and review. ( 18165831 )
2008
42
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. ( 19033726 )
2008
43
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. ( 17204049 )
2007
44
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. ( 17352389 )
2007
45
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. ( 16586480 )
2006
46
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. ( 17185244 )
2006
47
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
48
The mildest form of campomelic dysplasia. ( 15578585 )
2005
49
Differentiating campomelic dysplasia from Cumming syndrome. ( 15754354 )
2005
50
Fine mapping of chromosome 17 translocation breakpoints &amp;gt; or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. ( 15717285 )
2005

Variations for Campomelic Dysplasia

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

75 (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 266)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh37 Chromosome 10, 112572062: 112572062
2 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh38 Chromosome 10, 110812304: 110812304
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.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh38 Chromosome 17, 72123593: 72123593
8 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
9 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh38 Chromosome 17, 72124177: 72124177
10 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh37 Chromosome 17, 70118945: 70118945
11 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh38 Chromosome 17, 72122804: 72122804
12 SOX9 SOX9, 1-BP DEL, 296G deletion Pathogenic
13 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh37 Chromosome 17, 70118921: 70118921
14 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh38 Chromosome 17, 72122780: 72122780
15 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh37 Chromosome 17, 70117759: 70117759
16 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh38 Chromosome 17, 72121618: 72121618
17 SOX9 SOX9, 30-BP DEL deletion Pathogenic
18 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh37 Chromosome 17, 70118890: 70118890
19 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh38 Chromosome 17, 72122749: 72122749
20 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh37 Chromosome 17, 70118900: 70118900
21 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh38 Chromosome 17, 72122759: 72122759
22 SOX9 SOX9, 1-BP INS, 1103A insertion Pathogenic
23 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
24 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
25 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
26 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
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 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh37 Chromosome 10, 69959320: 69959320
32 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh38 Chromosome 10, 68199563: 68199563
33 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic NCBI36 Chromosome 17, 66151316: 67111510
34 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic GRCh37 Chromosome 17, 68639721: 69599915
35 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic GRCh38 Chromosome 17, 70643580: 71603774
36 RAF1 NM_002880.3(RAF1): c.122G> A (p.Arg41Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145611571 GRCh37 Chromosome 3, 12660099: 12660099
37 RAF1 NM_002880.3(RAF1): c.122G> A (p.Arg41Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145611571 GRCh38 Chromosome 3, 12618600: 12618600
38 MYBPC3 NM_000256.3(MYBPC3): c.2498C> T (p.Ala833Val) single nucleotide variant Benign/Likely benign rs3729952 GRCh37 Chromosome 11, 47359046: 47359046
39 MYBPC3 NM_000256.3(MYBPC3): c.2498C> T (p.Ala833Val) single nucleotide variant Benign/Likely benign rs3729952 GRCh38 Chromosome 11, 47337495: 47337495
40 MYBPC3 NM_000256.3(MYBPC3): c.436A> C (p.Thr146Pro) single nucleotide variant Uncertain significance rs397516048 GRCh37 Chromosome 11, 47371634: 47371634
41 MYBPC3 NM_000256.3(MYBPC3): c.436A> C (p.Thr146Pro) single nucleotide variant Uncertain significance rs397516048 GRCh38 Chromosome 11, 47350083: 47350083
42 MYH7 NM_000257.3(MYH7): c.3578G> A (p.Arg1193His) single nucleotide variant Uncertain significance rs397516187 GRCh37 Chromosome 14, 23889202: 23889202
43 MYH7 NM_000257.3(MYH7): c.3578G> A (p.Arg1193His) single nucleotide variant Uncertain significance rs397516187 GRCh38 Chromosome 14, 23419993: 23419993
44 RBM20 NM_001134363.2(RBM20): c.544C> A (p.Pro182Thr) single nucleotide variant Uncertain significance rs397516622 GRCh37 Chromosome 10, 112540911: 112540911
45 RBM20 NM_001134363.2(RBM20): c.544C> A (p.Pro182Thr) single nucleotide variant Uncertain significance rs397516622 GRCh38 Chromosome 10, 110781153: 110781153
46 DSG2 NM_001943.4(DSG2): c.44T> A (p.Leu15Gln) single nucleotide variant Uncertain significance rs372174546 GRCh37 Chromosome 18, 29078258: 29078258
47 DSG2 NM_001943.4(DSG2): c.44T> A (p.Leu15Gln) single nucleotide variant Uncertain significance rs372174546 GRCh38 Chromosome 18, 31498295: 31498295
48 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh37 Chromosome 14, 23856987: 23856987
49 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh38 Chromosome 14, 23387778: 23387778
50 MYH6 NM_002471.3(MYH6): c.824T> A (p.Ile275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201327273 GRCh37 Chromosome 14, 23872631: 23872631

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
Show member pathways
11.49 LMNA MYBPC3 MYH6 TTN
2 11.29 MYBPC3 MYH6 TTN
3 11.14 COL2A1 SOX5 SOX9
4 11.03 COL11A2 COL2A1 SOX10 SOX5 SOX9

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 sarcomere GO:0030017 9.33 MYBPC3 MYH6 TTN
2 striated muscle thin filament GO:0005865 9.32 MYBPC3 TTN
3 myosin filament GO:0032982 9.26 MYBPC3 MYH6
4 Z disc GO:0030018 9.26 BAG3 MYBPC3 MYH6 TTN
5 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 46)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.85 MYBPC3 MYH6 TTN
2 cellular response to mechanical stimulus GO:0071260 9.82 BAG3 KCNJ2 SOX9
3 cartilage development GO:0051216 9.81 COL11A2 COL2A1 SOX9
4 cell fate commitment GO:0045165 9.8 SOX5 SOX8 SOX9
5 cardiac muscle contraction GO:0060048 9.76 MYBPC3 MYH6 TTN
6 skeletal system morphogenesis GO:0048705 9.75 COL11A2 COL2A1 TBX4
7 central nervous system development GO:0007417 9.71 COL2A1 SOX10 SOX8 SOX9
8 negative regulation of myoblast differentiation GO:0045662 9.7 SOX8 SOX9
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 MYBPC3 MYH6
10 chondrocyte differentiation GO:0002062 9.7 COL11A2 COL2A1 SOX9
11 limb morphogenesis GO:0035108 9.69 COL2A1 TBX4
12 positive regulation of chondrocyte differentiation GO:0032332 9.69 SOX5 SOX9
13 cardiac muscle tissue morphogenesis GO:0055008 9.69 MYBPC3 TTN
14 sarcomere organization GO:0045214 9.69 MYBPC3 MYH6 TTN
15 cartilage condensation GO:0001502 9.68 COL2A1 SOX9
16 cardiac myofibril assembly GO:0055003 9.68 MYBPC3 TTN
17 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.68 SOX8 SOX9
18 positive regulation of cartilage development GO:0061036 9.67 SOX5 SOX9
19 striated muscle contraction GO:0006941 9.67 MYH6 TTN
20 skeletal muscle thin filament assembly GO:0030240 9.67 MYBPC3 TTN
21 muscle filament sliding GO:0030049 9.67 MYBPC3 MYH6 TTN
22 male sex determination GO:0030238 9.66 SOX9 SRY
23 enteric nervous system development GO:0048484 9.66 SOX10 SOX8
24 limb bud formation GO:0060174 9.65 COL2A1 SOX9
25 notochord development GO:0030903 9.65 COL2A1 SOX9
26 skeletal muscle myosin thick filament assembly GO:0030241 9.65 MYBPC3 TTN
27 Sertoli cell development GO:0060009 9.64 SOX8 SOX9
28 positive regulation of male gonad development GO:2000020 9.63 SOX9 SRY
29 lacrimal gland development GO:0032808 9.61 SOX10 SOX9
30 otic vesicle development GO:0071599 9.61 COL2A1 SOX9
31 negative regulation of photoreceptor cell differentiation GO:0046533 9.6 SOX8 SOX9
32 anterior head development GO:0097065 9.59 COL2A1 SOX9
33 astrocyte fate commitment GO:0060018 9.57 SOX8 SOX9
34 metanephric nephron tubule formation GO:0072289 9.56 SOX8 SOX9
35 positive regulation of kidney development GO:0090184 9.55 SOX8 SOX9
36 positive regulation of mesenchymal stem cell differentiation GO:2000741 9.54 SOX5 SOX9
37 oligodendrocyte differentiation GO:0048709 9.54 SOX10 SOX8 SOX9
38 positive regulation of gliogenesis GO:0014015 9.48 SOX10 SOX8
39 renal vesicle induction GO:0072034 9.46 SOX8 SOX9
40 retinal rod cell differentiation GO:0060221 9.43 SOX8 SOX9
41 tissue homeostasis GO:0001894 9.43 COL11A2 COL2A1 SOX9
42 cardiac muscle fiber development GO:0048739 9.33 MYBPC3 MYH6 TTN
43 ureter morphogenesis GO:0072197 9.32 SOX8 SOX9
44 morphogenesis of an epithelium GO:0002009 9.26 SOX10 SOX8 SOX9 TBX4
45 morphogenesis of a branching epithelium GO:0061138 8.8 SOX10 SOX8 SOX9
46 positive regulation of gene expression GO:0010628 10.02 LMNA SOX10 SOX8 SOX9 TTN

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 9.87 SOX10 SOX5 SOX8 SOX9 SRY TBX4
2 DNA-binding transcription factor activity GO:0003700 9.63 SOX10 SOX5 SOX8 SOX9 SRY TBX4
3 inward rectifier potassium channel activity GO:0005242 9.37 KCNJ16 KCNJ2
4 muscle alpha-actinin binding GO:0051371 9.26 MYBPC3 TTN
5 G-protein activated inward rectifier potassium channel activity GO:0015467 8.96 KCNJ16 KCNJ2
6 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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