CMD1
MCID: CMP005
MIFTS: 68

Campomelic Dysplasia (CMD1) malady

Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Campomelic Dysplasia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. this condition is often life-threatening in the newborn period. affected individuals are typically born with bowing of the long bones in the legs and may also have bowing in the arms; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; feet that are abnormally rotated (club feet); external genitalia that do not look clearly male or clearly female (ambiguous genitalia); distinctive facial features (including a small chin, prominent eyes, flat face, a large head compared to their body size); a particular group of physical features, called pierre-robin sequence; and other abnormalities. 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 affected individual. treatment typically includes multiple surgeries to correct some of the above-mentioned abnormalities. when affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. last updated: 12/29/2010

MalaCards: Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to campomelic dysplasia with autosomal sex reversal and gonadal dysgenesis, and has symptoms including femur anomaly/absence/agenesis/hypoplasia/bifurcation, megaureter/hydronephrosis/pyeloureteral junction syndrome and anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia. An important gene associated with Campomelic Dysplasia is SOX9 (SRY (sex determining region Y)-box 9), and among its related pathways are Neural Crest Differentiation and Endochondral Ossification. The compound dmrt have been mentioned in the context of this disorder. Affiliated tissues include tibia or, bone and skin, and related mouse phenotypes are skeleton and limbs/digits/tail.

Disease Ontology:8 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:21 Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. 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 they are occasionally born with 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 also usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and feet that are abnormally rotated (clubfeet). When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.

Wikipedia:63 Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur... more...

Description from OMIM:46 114290,211990,602196

GeneReviews summary for campo-dysp

Aliases & Classifications for Campomelic Dysplasia

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
campomelic dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

campomelic dysplasia 8 63 19 42 20 21 46 10 44 48 60
acampomelic campomelic dysplasia 8 9 20 46 60
camptomelic dysplasia 19 22 21
campomelic dwarfism 19 21 48
campomelic syndrome 19 21
camptomelic dwarfism 19
cmpd1/sra1 42
cmpd1 42
cmd1 42
cmpd 42


External Ids:

Disease Ontology8 DOID:0050463
MeSH34 D055036
MESH via Orphanet35 D055036
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 74928006
UMLS via Orphanet61 C1861922

Related Diseases for Campomelic Dysplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Campomelic Dysplasia:



Diseases related to campomelic dysplasia

Clinical Features for Campomelic Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

114290,211990,602196

Symptoms:

48 (show all 38)
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • rib number anomalies
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • bone/osseous hypoplasia
  • proptosis/exophthalmos
  • dermoid sinus/dimple/pit (excluding sacral)
  • ambiguous genitalia
  • male pseudohermaphrodism/lack of virilisation
  • tracheomalacia/tracheobronchomalacia
  • lack/delayed ossification of spine/vertebrae
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • kyphosis
  • dilated cerebral ventricles without hydrocephaly
  • stillbirth/neonatal death
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • hearing loss/hypoacusia/deafness
  • depressed nasal bridge
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • autosomal dominant inheritance
  • scoliosis
  • short neck
  • low set ears/posteriorly rotated ears
  • hypertelorism
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • talipes-varus/metatarsal varus
  • flat face
  • mutiple fractures/bone fragility
  • narrow rib cage/thorax
  • congenital cardiac anomaly/malformation/cardiopathy
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • laryngomalacia
  • short stature/dwarfism/nanism
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Campomelic Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Campomelic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Campomelic Dysplasia

Search NIH Clinical Center for Campomelic Dysplasia

Search CenterWatch for Campomelic Dysplasia

Genetic Tests for Campomelic Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Campomelic Dysplasia:

id Genetic test Affiliating Genes
1 Campomelic Dysplasia20 SOX9
2 Acampomelic Campomelic Dysplasia20
3 Camptomelic Dysplasia22

Anatomical Context for Campomelic Dysplasia

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Campomelic Dysplasia:

32
Bone, Skin, Eye, Lung, Olfactory bulb, Pancreas, Testis

FMA organs/tissues related to Campomelic Dysplasia:

14
Tibia or

Animal Models for Campomelic Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Campomelic Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9COL2A1, SOX6, SOX9, SOX5, SOX8, TBX18
2MP:00053718.6COL2A1, SOX6, SOX10, SOX9, SOX5, SOX8

Publications for Campomelic Dysplasia

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50PubMed
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Articles related to Campomelic Dysplasia:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. (23564514)
2014
2
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. (23551858)
2013
3
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. (21962881)
2012
4
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. (22097155)
2011
5
A case of campomelic dysplasia without sex reversal. (21218044)
2011
6
Campomelic dysplasia. (22346005)
2011
7
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. (21284335)
2010
8
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. (20812307)
2010
9
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. (20513132)
2010
10
Campomelic dysplasia: a rare cause of congenital spinal deformity. (20199862)
2010
11
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
12
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. (19033726)
2008
13
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. (17204049)
2007
14
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. (16586480)
2006
15
Differentiating campomelic dysplasia from Cumming syndrome. (15754354)
2005
16
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. (15806394)
2005
17
The mildest form of campomelic dysplasia. (15578585)
2005
18
Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester. (15300742)
2004
19
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
20
Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome. (12205120)
2002
21
Orthopaedic manifestations of campomelic dysplasia. (12151884)
2002
22
A case of acampomelic campomelic dysplasia. (12017234)
2002
23
Genetic study of SOX9 in a case of campomelic dysplasia. (11223854)
2001
24
Prenatal diagnosis of campomelic dysplasia. (10976487)
2000
25
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (10446171)
1999
26
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. (9678706)
1998
27
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization. (9452059)
1998
28
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. (9002675)
1997
29
Acampomelic campomelic dysplasia: further radiographic variations. (9066880)
1997
30
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. (8789441)
1996
31
Campomelic dysplasia associated with mandibular clefting. (8652083)
1996
32
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. (8566951)
1996
33
Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene. (8702120)
1996
34
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia. (8840554)
1996
35
3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma. (8749940)
1995
36
Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis. (7933045)
1994
37
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. (7990924)
1994
38
Campomelic dysplasia--an underdiagnosed condition? (8482284)
1993
39
Campomelic dysplasia without overt campomelia. (8281284)
1993
40
Campomelic dysplasia: evidence of autosomal dominant inheritance. (8411055)
1993
41
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. (1583645)
1992
42
Campomelic dysplasia without campomelia. (1560994)
1992
43
Temporal bone histopathological findings in campomelic dysplasia. (1613353)
1992
44
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. (1809232)
1991
45
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. (1677832)
1991
46
Acampomelic campomelic dysplasia. (2602025)
1989
47
Prenatal diagnosis of campomelic dysplasia by ultrasonography. (3883340)
1985
48
Orthopaedic problems associated with survival in campomelic dysplasia. (6705404)
1984
49
Absence of H-Y antigen in an XY female with campomelic dysplasia. (7196381)
1981
50
Sex-reversed XY females with campomelic dysplasia are H-Y negative. (7196380)
1981

Genetic Variations for Campomelic Dysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Campomelic Dysplasia:

62 (show all 32)
id Symbol AA change Variation ID SNP ID
1SOX9p.Pro108LeuVAR_003735
2SOX9p.Pro108LeuVAR_003735
3SOX9p.Phe112LeuVAR_003736
4SOX9p.Phe112LeuVAR_003736
5SOX9p.Phe112SerVAR_003737
6SOX9p.Phe112SerVAR_003737
7SOX9p.Ala119ValVAR_003738
8SOX9p.Ala119ValVAR_003738
9SOX9p.Trp143ArgVAR_003739
10SOX9p.Trp143ArgVAR_003739
11SOX9p.Arg152ProVAR_003740
12SOX9p.Arg152ProVAR_003740
13SOX9p.Pro170ArgVAR_003741
14SOX9p.Pro170ArgVAR_003741
15SOX9p.Phe154LeuVAR_008529
16SOX9p.Phe154LeuVAR_008529
17SOX9p.Ala158ThrVAR_008530
18SOX9p.Ala158ThrVAR_008530
19SOX9p.His165TyrVAR_008531rs28940282
20SOX9p.His165TyrVAR_008531rs28940282
21SOX9p.Ala76GluVAR_063642
22SOX9p.Ala76GluVAR_063642
23SOX9p.Met113ThrVAR_063643
24SOX9p.Met113ThrVAR_063643
25SOX9p.Met113ValVAR_063644
26SOX9p.Met113ValVAR_063644
27SOX9p.His165GlnVAR_063645
28SOX9p.His165GlnVAR_063645
29SOX9p.Pro170LeuVAR_063646
30SOX9p.Pro170LeuVAR_063646
31SOX9p.Lys173GluVAR_063647
32SOX9p.Lys173GluVAR_063647

Expression for genes affiliated with Campomelic Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Campomelic Dysplasia

Search GEO for disease gene expression data for Campomelic Dysplasia.

Pathways for genes affiliated with Campomelic Dysplasia

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37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SOX5, SOX9, SOX10, COL2A1
29.4COL2A1, SOX6, SOX9, SOX5
3
Hide members
7.7SOX8, COL2A1, COL9A2, SOX14, SOX6, SOX10

Compounds for genes affiliated with Campomelic Dysplasia

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44Novoseek
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Compounds related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmrt4410.1SRY, SOX9

GO Terms for genes affiliated with Campomelic Dysplasia

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16Gene Ontology
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Cellular components related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056345.7SRA1, SOX6, SOX10, SOX9, SOX5, SOX21

Biological processes related to Campomelic Dysplasia according to GeneCards/GeneDecks:

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1morphogenesis of a branching epitheliumGO:06113810.4SOX9, SOX8
2retinal rod cell differentiationGO:06022110.4SOX9, SOX8
3ureter morphogenesisGO:07219710.4SOX9, SOX8
4renal vesicle inductionGO:07203410.4SOX9, SOX8
5positive regulation of male gonad developmentGO:200002010.4SOX9, SRY
6metanephric nephron tubule formationGO:07228910.4SOX9, SOX8
7positive regulation of gliogenesisGO:01401510.4SOX10, SOX8
8astrocyte fate commitmentGO:06001810.4SOX9, SOX8
9negative regulation of photoreceptor cell differentiationGO:04653310.4SOX9, SOX8
10positive regulation of kidney developmentGO:09018410.3SOX8, SOX9
11notochord developmentGO:03090310.3COL2A1, SOX9
12Sertoli cell developmentGO:06000910.3SOX9, SOX8
13limb bud formationGO:06017410.3COL2A1, SOX9
14negative regulation of myoblast differentiationGO:04566210.3SOX9, SOX8
15tissue homeostasisGO:00189410.3SOX9, COL2A1
16enteric nervous system developmentGO:04848410.2SOX8, SOX10
17positive regulation of branching involved in ureteric bud morphogenesisGO:09019010.2SOX8, SOX9
18cartilage condensationGO:00150210.1COL2A1, SOX9
19male gonad developmentGO:00858410.1SOX9, SOX8, SRY
20positive regulation of mesenchymal stem cell differentiationGO:200074110.1SOX6, SOX9, SOX5
21cochlea morphogenesisGO:09010310.1TBX18, SOX9
22positive regulation of cartilage developmentGO:06103610.1SOX5, SOX9, SOX6
23positive regulation of chondrocyte differentiationGO:03233210.0SOX5, SOX9, SOX6
24cellular response to transforming growth factor beta stimulusGO:07156010.0SOX5, SOX9, SOX6
25peripheral nervous system developmentGO:00742210.0SOX8, SOX10
26skeletal system developmentGO:00150110.0COL2A1, COL9A2, SOX9
27oligodendrocyte differentiationGO:0487099.9SOX8, SOX5, SOX9, SOX10
28cartilage developmentGO:0512169.8COL2A1, SOX6, SOX9, SOX5
29hair follicle developmentGO:0019429.7SOX21, SOX9
30neural crest cell migrationGO:0017559.7SOX8, SOX10
31in utero embryonic developmentGO:0017019.7SOX8, SOX5, SOX10, SOX6
32negative regulation of apoptotic processGO:0430669.5COL2A1, SOX10, SOX9, SOX8
33positive regulation of transcription from RNA polymerase II promoterGO:0459449.3SOX6, SOX10, SOX9, SOX5, SOX8, SRA1
34negative regulation of transcription from RNA polymerase II promoterGO:0001228.6SOX14, SOX6, WWP2, TBX18, SRY
35negative regulation of transcription, DNA-dependentGO:0458928.5SOX14, SOX10, SOX9, SOX5, SOX8, WWP2

Molecular functions related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:03002010.0COL9A2, COL2A1
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.8SRY, SOX9, SOX10
3transcription factor bindingGO:0081348.7SOX10, SOX8, WWP2, SRY
4sequence-specific DNA binding transcription factor activityGO:0037008.6SOX6, SOX9, SOX5, SOX21, SOX8, TBX18

Products for genes affiliated with Campomelic Dysplasia

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Sources for Campomelic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet