CMD1
MCID: CMP005
MIFTS: 57

Campomelic Dysplasia (CMD1)

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cardiovascular 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 hermaphroditism and gonadoblastoma, and has symptoms including apnea and respiratory distress. 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 hypertelorism

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.

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.

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.

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 all 42)
# Related Disease Score Top Affiliating Genes
1 hermaphroditism 30.6 SOX9 SRY
2 gonadoblastoma 30.5 SOX9 SRY
3 gonadal dysgenesis 30.2 SOX9 SRY
4 skeletal dysplasias 29.3 COL11A2 COL2A1 SOX9
5 cleft palate, isolated 29.2 COL11A2 COL2A1 SOX9
6 pierre robin sequence with pectus excavatum and rib and scapular anomalies 11.3
7 cardiomyopathy, dilated, 1e 11.2
8 cardiomyopathy, dilated, 1b 11.1
9 camptomelic syndrome, long-limb type 11.1
10 atelosteogenesis, type i 11.0
11 boomerang dysplasia 11.0
12 myeloproliferative neoplasm 11.0
13 46,xy partial gonadal dysgenesis 10.6 SOX9 SRY
14 46,xx sex reversal 1 10.5 SOX9 SRY
15 mixed gonadal dysgenesis 10.5 SOX9 SRY
16 testicular disease 10.5 SOX9 SRY
17 persistent mullerian duct syndrome 10.4 SOX9 SRY
18 46 xy gonadal dysgenesis 10.3 SOX9 SRY
19 frasier syndrome 10.2 SOX9 SRY
20 thyrotoxic periodic paralysis 10.2 KCNJ16 KCNJ2
21 synovial chondromatosis 10.2 COL2A1 SOX9
22 bone deterioration disease 10.1 COL2A1 SOX9
23 dwarfism 10.1
24 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL11A2 COL2A1
25 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL11A2 COL2A1
26 bone structure disease 10.0 COL2A1 SOX9
27 otospondylomegaepiphyseal dysplasia 10.0 COL11A2 COL2A1
28 ischiocoxopodopatellar syndrome 9.9
29 campomelia, cumming type 9.9
30 pierre robin syndrome 9.9
31 brittle bone disorder 9.9
32 alacrima, achalasia, and mental retardation syndrome 9.9
33 hydrocephalus 9.9
34 nephrocalcinosis 9.9
35 malignant hyperthermia 9.9
36 tracheobronchomalacia 9.9
37 isolated pierre robin sequence 9.9
38 stickler syndrome 9.8 COL11A2 COL2A1
39 bone development disease 9.8 COL2A1 SOX9
40 spinal stenosis 9.8 COL11A2 COL2A1
41 osteoarthritis 9.6 COL11A2 COL2A1 SOX9
42 osteochondrodysplasia 9.5 COL2A1 SOX9

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



Diseases related to Campomelic Dysplasia

Symptoms & Phenotypes for Campomelic Dysplasia

Symptoms via clinical synopsis from OMIM:

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

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

Respiratory Airways:
tracheobronchomalacia

Growth Other:
failure to thrive in survivors

Cardiovascular Heart:
congenital heart defects

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

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

Head And Neck 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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
19 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
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:


apnea, respiratory distress

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 growth/size/body region MP:0005378 9.7 KCNJ2 SOX10 SOX8 SOX9 TBX4 COL11A2
2 limbs/digits/tail MP:0005371 9.35 COL2A1 SOX10 SOX8 SOX9 TBX4
3 skeleton MP:0005390 9.1 COL11A2 COL2A1 KCNJ2 SOX8 SOX9 TBX4

Drugs & Therapeutics for Campomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Campomelic Dysplasia

Cochrane evidence based reviews: campomelic dysplasia

Genetic Tests for Campomelic Dysplasia

Genetic tests related to Campomelic Dysplasia:

# Genetic test Affiliating Genes
1 Camptomelic Dysplasia 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, Skin, Pancreas, Testis

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 118)
# 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
Absent pedicles in campomelic dysplasia. ( 28447148 )
2017
4
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. ( 28546996 )
2017
5
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. ( 27833291 )
2016
6
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. ( 26602066 )
2016
7
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
8
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. ( 26631621 )
2016
9
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. ( 26740947 )
2015
10
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. ( 25940622 )
2015
11
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. ( 25983619 )
2015
12
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. ( 26078652 )
2014
13
Novel c.358C&amp;gt;T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. ( 24451061 )
2014
14
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. ( 24907458 )
2014
15
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. ( 24821304 )
2014
16
Campomelic dysplasia. ( 24800790 )
2014
17
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. ( 23564514 )
2014
18
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. ( 25041778 )
2014
19
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. ( 23648064 )
2013
20
Clinical Utility Gene Card for: campomelic dysplasia. ( 23047745 )
2013
21
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. ( 24038782 )
2013
22
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. ( 23551858 )
2013
23
Acampomelic campomelic dysplasia in genetic male without sex reversal. ( 22202956 )
2012
24
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. ( 21962881 )
2012
25
Mild Campomelic Dysplasia: Report on a Case and Review. ( 21373255 )
2011
26
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. ( 21614988 )
2011
27
Campomelic dysplasia. ( 22346005 )
2011
28
Campomelic dysplasia and malignant hyperthermia. ( 22691592 )
2011
29
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. ( 22097155 )
2011
30
A case of campomelic dysplasia without sex reversal. ( 21218044 )
2011
31
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. ( 20812307 )
2010
32
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. ( 20453475 )
2010
33
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. ( 20513132 )
2010
34
Campomelic dysplasia: a rare cause of congenital spinal deformity. ( 20199862 )
2010
35
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. ( 21284335 )
2010
36
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. ( 19231556 )
2009
37
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. ( 19253311 )
2009
38
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
39
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. ( 19449405 )
2009
40
Campomelic dysplasia: case report and review. ( 18165831 )
2008
41
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. ( 19033726 )
2008
42
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. ( 17204049 )
2007
43
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. ( 17352389 )
2007
44
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. ( 16586480 )
2006
45
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. ( 17185244 )
2006
46
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
47
The mildest form of campomelic dysplasia. ( 15578585 )
2005
48
Differentiating campomelic dysplasia from Cumming syndrome. ( 15754354 )
2005
49
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
50
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. ( 15806394 )
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
3 SOX9 p.Phe112Ser VAR_003737
4 SOX9 p.Ala119Val VAR_003738
5 SOX9 p.Trp143Arg VAR_003739
6 SOX9 p.Arg152Pro VAR_003740
7 SOX9 p.Pro170Arg VAR_003741
8 SOX9 p.Phe154Leu VAR_008529 rs137853129
9 SOX9 p.Ala158Thr VAR_008530 rs137853130
10 SOX9 p.His165Tyr VAR_008531 rs28940282
11 SOX9 p.Ala76Glu VAR_063642 rs137853128
12 SOX9 p.Met113Thr VAR_063643
13 SOX9 p.Met113Val VAR_063644
14 SOX9 p.His165Gln VAR_063645
15 SOX9 p.Pro170Leu VAR_063646
16 SOX9 p.Lys173Glu VAR_063647 rs104894647
17 SOX9 p.His169Pro VAR_078491
18 SOX9 p.His169Gln VAR_078492 rs2229989

ClinVar genetic disease variations for Campomelic Dysplasia:

6
(show top 50) (show all 161)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX9 SOX9, 583C-T single nucleotide variant Pathogenic
2 SOX9 SOX9, 1-BP INS, 783G insertion Pathogenic
3 SOX9 SOX9, 4-BP INS insertion Pathogenic
4 SOX9 NM_000346.3(SOX9): c.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh37 Chromosome 17, 70119734: 70119734
5 SOX9 NM_000346.3(SOX9): c.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh38 Chromosome 17, 72123593: 72123593
6 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
7 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh38 Chromosome 17, 72124177: 72124177
8 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh37 Chromosome 17, 70118945: 70118945
9 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh38 Chromosome 17, 72122804: 72122804
10 SOX9 SOX9, 1-BP DEL, 296G deletion Pathogenic
11 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh37 Chromosome 17, 70118921: 70118921
12 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh38 Chromosome 17, 72122780: 72122780
13 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh37 Chromosome 17, 70117759: 70117759
14 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh38 Chromosome 17, 72121618: 72121618
15 SOX9 SOX9, 30-BP DEL deletion Pathogenic
16 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh37 Chromosome 17, 70118890: 70118890
17 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh38 Chromosome 17, 72122749: 72122749
18 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh37 Chromosome 17, 70118900: 70118900
19 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh38 Chromosome 17, 72122759: 72122759
20 SOX9 SOX9, 1-BP INS, 1103A insertion Pathogenic
21 SOX9 NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
22 SOX9 NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh38 Chromosome 17, 72124177: 72124177
23 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic NCBI36 Chromosome 17, 66151316: 67111510
24 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic GRCh37 Chromosome 17, 68639721: 69599915
25 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic GRCh38 Chromosome 17, 70643580: 71603774
26 SOX9 NM_000346.3(SOX9): c.519G> A (p.Lys173=) single nucleotide variant Conflicting interpretations of pathogenicity rs202115157 GRCh37 Chromosome 17, 70118947: 70118947
27 SOX9 NM_000346.3(SOX9): c.519G> A (p.Lys173=) single nucleotide variant Conflicting interpretations of pathogenicity rs202115157 GRCh38 Chromosome 17, 72122806: 72122806
28 SOX9 NM_000346.3(SOX9): c.685+8G> A single nucleotide variant Benign/Likely benign rs117696751 GRCh37 Chromosome 17, 70119121: 70119121
29 SOX9 NM_000346.3(SOX9): c.685+8G> A single nucleotide variant Benign/Likely benign rs117696751 GRCh38 Chromosome 17, 72122980: 72122980
30 SOX9 NM_000346.3(SOX9): c.1113G> A (p.Ala371=) single nucleotide variant Benign rs929651 GRCh37 Chromosome 17, 70120111: 70120111
31 SOX9 NM_000346.3(SOX9): c.1113G> A (p.Ala371=) single nucleotide variant Benign rs929651 GRCh38 Chromosome 17, 72123970: 72123970
32 SOX9 NM_000346.3(SOX9): c.507C> G (p.His169Gln) single nucleotide variant Uncertain significance rs2229989 GRCh38 Chromosome 17, 72122794: 72122794
33 SOX9 NM_000346.3(SOX9): c.507C> G (p.His169Gln) single nucleotide variant Uncertain significance rs2229989 GRCh37 Chromosome 17, 70118935: 70118935
34 SOX9 NM_000346.3(SOX9): c.531G> A (p.Arg177=) single nucleotide variant Conflicting interpretations of pathogenicity rs144824678 GRCh37 Chromosome 17, 70118959: 70118959
35 SOX9 NM_000346.3(SOX9): c.531G> A (p.Arg177=) single nucleotide variant Conflicting interpretations of pathogenicity rs144824678 GRCh38 Chromosome 17, 72122818: 72122818
36 SOX9 NM_000346.3(SOX9): c.1249C> T (p.Gln417Ter) single nucleotide variant Pathogenic rs886043831 GRCh37 Chromosome 17, 70120247: 70120247
37 SOX9 NM_000346.3(SOX9): c.1249C> T (p.Gln417Ter) single nucleotide variant Pathogenic rs886043831 GRCh38 Chromosome 17, 72124106: 72124106
38 SOX9 NM_000346.3(SOX9): c.986C> T (p.Ala329Val) single nucleotide variant Uncertain significance rs886053351 GRCh38 Chromosome 17, 72123843: 72123843
39 SOX9 NM_000346.3(SOX9): c.-284G> A single nucleotide variant Uncertain significance rs773395160 GRCh38 Chromosome 17, 72121108: 72121108
40 SOX9 NM_000346.3(SOX9): c.-284G> A single nucleotide variant Uncertain significance rs773395160 GRCh37 Chromosome 17, 70117249: 70117249
41 SOX9 NM_000346.3(SOX9): c.-219C> T single nucleotide variant Uncertain significance rs886053348 GRCh38 Chromosome 17, 72121173: 72121173
42 SOX9 NM_000346.3(SOX9): c.-219C> T single nucleotide variant Uncertain significance rs886053348 GRCh37 Chromosome 17, 70117314: 70117314
43 SOX9 NM_000346.3(SOX9): c.-203C> G single nucleotide variant Uncertain significance rs886053349 GRCh38 Chromosome 17, 72121189: 72121189
44 SOX9 NM_000346.3(SOX9): c.-203C> G single nucleotide variant Uncertain significance rs886053349 GRCh37 Chromosome 17, 70117330: 70117330
45 SOX9 NM_000346.3(SOX9): c.393C> T (p.His131=) single nucleotide variant Uncertain significance rs886053350 GRCh38 Chromosome 17, 72121784: 72121784
46 SOX9 NM_000346.3(SOX9): c.393C> T (p.His131=) single nucleotide variant Uncertain significance rs886053350 GRCh37 Chromosome 17, 70117925: 70117925
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 10.97 COL2A1 SOX9
2 10.93 COL11A2 COL2A1 SOX10 SOX9
3 10.59 SOX9 SRY

GO Terms for Campomelic Dysplasia

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

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

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 SOX10 SOX8 SOX9 SRY
2 skeletal system development GO:0001501 9.77 COL11A2 COL2A1 SOX9
3 cartilage development GO:0051216 9.71 COL11A2 COL2A1 SOX9
4 cell fate commitment GO:0045165 9.65 SOX8 SOX9
5 retina development in camera-type eye GO:0060041 9.65 SOX8 SOX9
6 collagen catabolic process GO:0030574 9.65 COL11A2 COL2A1
7 collagen fibril organization GO:0030199 9.64 COL11A2 COL2A1
8 potassium ion import GO:0010107 9.64 KCNJ16 KCNJ2
9 cellular response to BMP stimulus GO:0071773 9.63 COL2A1 SOX9
10 limb morphogenesis GO:0035108 9.62 COL2A1 TBX4
11 negative regulation of myoblast differentiation GO:0045662 9.62 SOX8 SOX9
12 cartilage condensation GO:0001502 9.61 COL2A1 SOX9
13 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.61 SOX8 SOX9
14 male sex determination GO:0030238 9.59 SOX9 SRY
15 limb bud formation GO:0060174 9.58 COL2A1 SOX9
16 Sertoli cell development GO:0060009 9.58 SOX8 SOX9
17 notochord development GO:0030903 9.57 COL2A1 SOX9
18 positive regulation of male gonad development GO:2000020 9.56 SOX9 SRY
19 otic vesicle development GO:0071599 9.55 COL2A1 SOX9
20 skeletal system morphogenesis GO:0048705 9.54 COL11A2 COL2A1 TBX4
21 negative regulation of photoreceptor cell differentiation GO:0046533 9.52 SOX8 SOX9
22 anterior head development GO:0097065 9.51 COL2A1 SOX9
23 chondrocyte differentiation GO:0002062 9.5 COL11A2 COL2A1 SOX9
24 metanephric nephron tubule formation GO:0072289 9.49 SOX8 SOX9
25 astrocyte fate commitment GO:0060018 9.48 SOX8 SOX9
26 positive regulation of kidney development GO:0090184 9.46 SOX8 SOX9
27 renal vesicle induction GO:0072034 9.43 SOX8 SOX9
28 retinal rod cell differentiation GO:0060221 9.4 SOX8 SOX9
29 ureter morphogenesis GO:0072197 9.26 SOX8 SOX9
30 morphogenesis of a branching epithelium GO:0061138 9.16 SOX8 SOX9
31 oligodendrocyte differentiation GO:0048709 9.13 SOX10 SOX8 SOX9
32 tissue homeostasis GO:0001894 8.8 COL11A2 COL2A1 SOX9

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.72 SOX10 SOX8 SOX9 SRY TBX4
2 DNA binding transcription factor activity GO:0003700 9.65 SOX10 SOX8 SOX9 SRY TBX4
3 transcription factor binding GO:0008134 9.54 SOX10 SOX8 SRY
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 SOX9 SRY
5 extracellular matrix structural constituent GO:0005201 9.4 COL11A2 COL2A1
6 inward rectifier potassium channel activity GO:0005242 9.16 KCNJ16 KCNJ2
7 G-protein activated inward rectifier potassium channel activity GO:0015467 8.96 KCNJ16 KCNJ2
8 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A2 COL2A1

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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