CMD1
MCID: CMP005
MIFTS: 55

Campomelic Dysplasia (CMD1) malady

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

Aliases & Classifications for Campomelic Dysplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Campomelic Dysplasia:

Name: Campomelic Dysplasia 52 11 71 23 48 24 25 54 70 50 39 13 68
Acampomelic Campomelic Dysplasia 52 11 24 70 12 68
Camptomelic Dysplasia 23 24 25 70 27
Campomelic Dwarfism 23 24 25 54
Campomelic Dysplasia with Autosomal Sex Reversal 52 70 27
Campomelic Syndrome 23 24 25
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 70 27
 
Camptomelic Dwarfism 23 24
Cmpd1/sra1 48 70
Cmpd1 48 70
Cmpd 48 70
Cmd1 48 70
Chronic Myeloproliferative Disorder 68
Familial Dilated Cardiomyopathy 68

Characteristics:

Orphanet epidemiological data:

54
campomelic dysplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

64
campomelic dysplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: sox9 coding region mutations are completely penetrant...


Classifications:



External Ids:

OMIM52 114290
Disease Ontology11 DOID:0050463
MeSH39 D055036
Orphanet54 ORPHA140
SNOMED-CT62 74928006
MESH via Orphanet40 D055036
ICD10 via Orphanet31 Q87.1
UMLS via Orphanet69 C1861922

Summaries for Campomelic Dysplasia

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NIH Rare Diseases:48 Campomelic dysplasia is a genetic disorder that affects the development of the skeleton and reproductive system. this condition is often life-threatening in the newborn period because of respiratory problems. affected children are typically born with bowing of the long bones in the legs and may also have bowing in the arms. about 75% of the children have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). common findings include distinctive facial features (including a small chin, prominent eyes, flat face, and a large head compared to their body size); a particular group of physical features, called pierre-robin sequence; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; and feet that are abnormally rotated (club feet). it is caused by mutations in the sox9 gene and is inherited in an autosomal dominant pattern, although most cases result from a new mutation in the person with the genetic disorder. treatment typically includes multiple surgeries to correct some of the abnormalities present.bowing of the limbs, the feature that gave the disorder its name (campomelic is derived from the greek for “bent limb), does not have to be present. when the limbs are not bowed, the term “acampomelic campomelic dysplasia” is used. last updated: 4/4/2017

MalaCards based summary: Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to pierre robin sequence with pectus excavatum and rib and scapular anomalies and cardiomyopathy, dilated, 1e, and has symptoms including respiratory distress, respiratory distress and Array. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box 9), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Neural Crest Differentiation. Affiliated tissues include tibia or, bone and eye, and related mouse phenotypes are digestive/alimentary and respiratory system.

Disease Ontology:11 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:52 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...

UniProtKB/Swiss-Prot:70 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:71 Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many... more...

GeneReviews for NBK1760

Related Diseases for Campomelic Dysplasia

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



Diseases related to campomelic dysplasia

Symptoms & Phenotypes for Campomelic Dysplasia

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Symptoms by clinical synopsis from OMIM:

114290

Clinical features from OMIM:

114290

Human phenotypes related to Campomelic Dysplasia:

 54 64 (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male pseudohermaphroditism64 54 Frequent (79-30%) HP:0000037
2 ambiguous genitalia64 54 Frequent (79-30%) HP:0000062
3 hydronephrosis64 54 Occasional (29-5%) HP:0000126
4 cleft palate64 54 Very frequent (99-80%) HP:0000175
5 macrocephaly64 54 Very frequent (99-80%) HP:0000256
6 hypertelorism64 54 Frequent (79-30%) HP:0000316
7 micrognathia64 54 Very frequent (99-80%) HP:0000347
8 hearing impairment64 54 Occasional (29-5%) HP:0000365
9 low-set ears64 54 Frequent (79-30%) HP:0000369
10 short neck64 54 Very frequent (99-80%) HP:0000470
11 proptosis64 54 Frequent (79-30%) HP:0000520
12 narrow chest64 54 Very frequent (99-80%) HP:0000774
13 11 pairs of ribs64 54 Very frequent (99-80%) HP:0000878
14 laryngomalacia64 54 Very frequent (99-80%) HP:0001601
15 talipes equinovarus64 54 Frequent (79-30%) HP:0001762
16 respiratory insufficiency64 54 Very frequent (99-80%) HP:0002093
17 ventriculomegaly64 54 Occasional (29-5%) HP:0002119
18 malformation of the heart and great vessels54 Occasional (29-5%)
19 scoliosis64 54 Very frequent (99-80%) HP:0002650
20 recurrent fractures64 54 Very frequent (99-80%) HP:0002757
21 tracheomalacia54 Very frequent (99-80%)
22 tracheobronchomalacia64 54 Very frequent (99-80%) HP:0002786
23 kyphosis64 54 Occasional (29-5%) HP:0002808
24 hip dislocation64 54 Very frequent (99-80%) HP:0002827
25 femoral bowing64 54 Frequent (79-30%) HP:0002980
26 tibial bowing64 54 Very frequent (99-80%) HP:0002982
27 short long bone54 Very frequent (99-80%)
28 fibular hypoplasia64 54 Very frequent (99-80%) HP:0003038
29 short stature64 54 Frequent (79-30%) HP:0004322
30 abnormality of the sense of smell64 54 Occasional (29-5%) HP:0004408
31 depressed nasal bridge64 54 Occasional (29-5%) HP:0005280
32 bowing of the long bones54 Very frequent (99-80%)
33 small abnormally formed scapulae64 54 Very frequent (99-80%) HP:0006584
34 hypoplasia of olfactory tract64 54 Occasional (29-5%) HP:0007036
35 poorly ossified cervical vertebrae64 54 Very frequent (99-80%) HP:0008477
36 hypoplastic inferior ilia64 54 Very frequent (99-80%) HP:0008821
37 skin dimples64 54 Frequent (79-30%) HP:0010781
38 flat face64 54 Very frequent (99-80%) HP:0012368
39 hydrocephalus64 HP:0000238
40 wide anterior fontanel64 HP:0000260
41 small face64 HP:0000274
42 high forehead64 HP:0000348
43 depressed nasal ridge64 HP:0000457
44 blepharophimosis64 HP:0000581
45 hypoplastic scapulae64 HP:0000882
46 thin ribs64 HP:0000883
47 muscular hypotonia64 HP:0001252
48 failure to thrive64 HP:0001508
49 polyhydramnios64 HP:0001561
50 abnormal heart morphology64 HP:0001627
51 respiratory distress64 HP:0002098
52 apnea64 HP:0002104
53 kyphoscoliosis64 HP:0002751
54 hypoplastic iliac wing64 HP:0002866
55 shortening of all phalanges of the toes64 HP:0005035
56 thoracic hypoplasia64 HP:0005257
57 anterior tibial bowing64 HP:0006390
58 absent sternal ossification64 HP:0006628
59 hypoplastic cervical vertebrae64 HP:0008434
60 disproportionate short-limb short stature64 HP:0008873
61 neonatal short-limb short stature64 HP:0008921
62 shortening of all phalanges of fingers64 HP:0011910
63 sex reversal64 HP:0012245
64 short palpebral fissure64 HP:0012745
65 abnormality of cardiovascular system morphology64 HP:0030680

UMLS symptoms related to Campomelic Dysplasia:


respiratory distress

MGI Mouse Phenotypes related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4BCR, COL2A1, KCNJ2, PDGFRA, SOX10, SOX9
2MP:00053888.3COL2A1, KCNJ2, PDGFRA, SOX10, SOX9

Drugs & Therapeutics for Campomelic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Campomelic Dysplasia


Cochrane evidence based reviews: campomelic dysplasia

Genetic Tests for Campomelic Dysplasia

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Genetic tests related to Campomelic Dysplasia:

id Genetic test Affiliating Genes
1 Camptomelic Dysplasia27
2 Campomelic Dysplasia with Autosomal Sex Reversal27
3 Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal27
4 Campomelic Dysplasia24 SOX9
5 Acampomelic Campomelic Dysplasia24

Anatomical Context for Campomelic Dysplasia

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MalaCards organs/tissues related to Campomelic Dysplasia:

36
Bone, Eye, Heart, Skin, Testis, Pancreas

FMA organs/tissues related to Campomelic Dysplasia:

17
Tibia or

Publications for Campomelic Dysplasia

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Articles related to Campomelic Dysplasia:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Absent pedicles in campomelic dysplasia. (28447148)
2017
2
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. (26602066)
2016
3
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. (26631621)
2016
4
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
5
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. (27833291)
2016
6
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. (26740947)
2015
7
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. (25983619)
2015
8
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. (25940622)
2015
9
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. (23564514)
2014
10
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. (24821304)
2014
11
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. (24907458)
2014
12
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. (26078652)
2014
13
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. (24451061)
2014
14
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. (25041778)
2014
15
Campomelic dysplasia. (24800790)
2014
16
Clinical Utility Gene Card for: campomelic dysplasia. (23047745)
2013
17
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. (23551858)
2013
18
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. (24038782)
2013
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
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. (21962881)
2012
21
Acampomelic campomelic dysplasia in genetic male without sex reversal. (22202956)
2012
22
Mild Campomelic Dysplasia: Report on a Case and Review. (21373255)
2011
23
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. (22097155)
2011
24
Campomelic dysplasia. (22346005)
2011
25
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. (21614988)
2011
26
A case of campomelic dysplasia without sex reversal. (21218044)
2011
27
Campomelic dysplasia and malignant hyperthermia. (22691592)
2011
28
Campomelic dysplasia: a rare cause of congenital spinal deformity. (20199862)
2010
29
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. (20513132)
2010
30
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. (20453475)
2010
31
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. (21284335)
2010
32
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. (20812307)
2010
33
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. (19449405)
2009
34
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. (19231556)
2009
35
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
36
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. (19253311)
2009
37
Campomelic dysplasia: case report and review. (18165831)
2008
38
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. (19033726)
2008
39
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. (17204049)
2007
40
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. (17352389)
2007
41
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. (17185244)
2006
42
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. (16586480)
2006
43
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
44
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. (15806394)
2005
45
Differentiating campomelic dysplasia from Cumming syndrome. (15754354)
2005
46
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. (15717285)
2005
47
The mildest form of campomelic dysplasia. (15578585)
2005
48
A fatal Turkish case of campomelic dysplasia. (15008578)
2004
49
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. (15060123)
2004
50
Variable expression of campomelic dysplasia in a father and his 46, XY daughter. (12687888)
2003

Variations for Campomelic Dysplasia

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

70 (show all 18)
id Symbol AA change Variation ID SNP ID
1SOX9p.Pro108LeuVAR_003735
2SOX9p.Phe112LeuVAR_003736
3SOX9p.Phe112SerVAR_003737
4SOX9p.Ala119ValVAR_003738
5SOX9p.Trp143ArgVAR_003739
6SOX9p.Arg152ProVAR_003740
7SOX9p.Pro170ArgVAR_003741
8SOX9p.Phe154LeuVAR_008529rs137853129
9SOX9p.Ala158ThrVAR_008530rs137853130
10SOX9p.His165TyrVAR_008531rs28940282
11SOX9p.Ala76GluVAR_063642rs137853128
12SOX9p.Met113ThrVAR_063643
13SOX9p.Met113ValVAR_063644
14SOX9p.His165GlnVAR_063645
15SOX9p.Pro170LeuVAR_063646
16SOX9p.Lys173GluVAR_063647rs104894647
17SOX9p.His169ProVAR_078491
18SOX9p.His169GlnVAR_078492

Clinvar genetic disease variations for Campomelic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SOX9NM_ 000346.3(SOX9): c.1320C> A (p.Tyr440Ter)SNVPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
2SOX9SOX9, 583C-TSNVPathogenic
3SOX9NM_ 000346.3(SOX9): c.736dupC (p.Gln246Profs)duplicationPathogenicrs587776541GRCh37Chr 17, 70119734: 70119734
4SOX9NM_ 000346.3(SOX9): c.1320C> G (p.Tyr440Ter)SNVPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
5SOX9SOX9, 30-BP DELdeletionPathogenic
6SOX9NM_ 000346.3(SOX9): c.462C> G (p.Phe154Leu)SNVPathogenicrs137853129GRCh37Chr 17, 70118890: 70118890
7SOX9SOX9, 1-BP INS, 1103AinsertionPathogenic
8SOX9NM_ 000346.3(SOX9): c.1249C> T (p.Gln417Ter)SNVPathogenicrs886043831GRCh37Chr 17, 70120247: 70120247
9SOX9NM_ 000346.3(SOX9): c.1427T> C (p.Met476Thr)SNVLikely pathogenicrs1057518669GRCh37Chr 17, 70120425: 70120425

Expression for genes affiliated with Campomelic Dysplasia

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Search GEO for disease gene expression data for Campomelic Dysplasia.

Pathways for genes affiliated with Campomelic Dysplasia

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GO Terms for genes affiliated with Campomelic Dysplasia

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:000150210.4COL2A1, SOX9
2chondrocyte differentiationGO:000206210.4COL2A1, SOX9
3male sex determinationGO:003023810.4SOX9, SRY
4lacrimal gland developmentGO:003280810.3SOX10, SOX9
5morphogenesis of a branching epitheliumGO:006113810.3SOX10, SOX9
6limb bud formationGO:006017410.3COL2A1, SOX9
7oligodendrocyte differentiationGO:004870910.3SOX10, SOX9
8notochord developmentGO:003090310.3COL2A1, SOX9
9otic vesicle developmentGO:007159910.2COL2A1, SOX9
10positive regulation of male gonad developmentGO:200002010.2SOX9, SRY
11potassium ion importGO:00101079.8KCNJ16, KCNJ2
12extracellular matrix organizationGO:00301989.8COL2A1, PDGFRA, SOX9
13platelet-derived growth factor receptor signaling pathwayGO:00480089.8BCR, PDGFRA
14tissue homeostasisGO:00018949.7COL2A1, SOX9

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.0COL2A1, PDGFRA
2G-protein activated inward rectifier potassium channel activityGO:001546710.0KCNJ16, KCNJ2
3inward rectifier potassium channel activityGO:000524210.0KCNJ16, KCNJ2
4transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.4SOX10, SOX9, SRY

Sources for Campomelic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet