CMD1
MCID: CMP005
MIFTS: 56

Campomelic Dysplasia (CMD1) malady

Reproductive, Bone, Endocrine, Fetal categories

Summaries for Campomelic Dysplasia

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 gonadoblastoma, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, hypertelorism and low set ears/posteriorly rotated ears. 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, skin and pancreas, 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:64 Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur... more...

Description from OMIM:47 114290,211990,602196

GeneReviews summary for campo-dysp

Aliases & Classifications for Campomelic Dysplasia

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 9diseasecard, 22GTR, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Reproductive, Bone, Endocrine


Characteristics (Orphanet epidemiological data):

49
campomelic dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

campomelic dysplasia 8 64 19 43 20 21 47 10 45 49 61
acampomelic campomelic dysplasia 8 9 20 47 61
camptomelic dysplasia 19 22 21
campomelic dwarfism 19 21 49
campomelic syndrome 19 21
camptomelic dwarfism 19
cmpd1/sra1 43
cmpd1 43
cmpd 43
cmd1 43


External Ids:

Disease Ontology8 DOID:0050463
MeSH35 D055036
MESH via Orphanet36 D055036
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 74928006
UMLS via Orphanet62 C1861922

Related Diseases for Campomelic Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to campomelic dysplasia

Clinical Features for Campomelic Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

114290,211990,602196

Symptoms:

49 (show all 38)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hypertelorism
  • low set ears/posteriorly rotated ears
  • short neck
  • scoliosis
  • kyphosis
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • depressed nasal bridge
  • hearing loss/hypoacusia/deafness
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • short stature/dwarfism/nanism
  • laryngomalacia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • narrow rib cage/thorax
  • mutiple fractures/bone fragility
  • flat face
  • talipes-varus/metatarsal varus
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • stillbirth/neonatal death
  • dilated cerebral ventricles without hydrocephaly
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • 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

Drugs & Therapeutics for Campomelic Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Sources:
33MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Campomelic Dysplasia:

33
Skin, Pancreas, Testis, Testis germ

FMA organs/tissues related to Campomelic Dysplasia:

14
Tibia or

Animal Models for Campomelic Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Campomelic Dysplasia:

37
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

Sources:
51PubMed
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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
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
3
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. (23551858)
2013
4
Mild Campomelic Dysplasia: Report on a Case and Review. (21373255)
2011
5
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. (22097155)
2011
6
A case of campomelic dysplasia without sex reversal. (21218044)
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
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. (20453475)
2010
12
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
13
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. (17204049)
2007
14
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. (17185244)
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
A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal. (12810722)
2003
20
Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia. (12128229)
2002
21
Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome. (12205120)
2002
22
The phenotype of survivors of campomelic dysplasia. (12161603)
2002
23
Orthopaedic manifestations of campomelic dysplasia. (12151884)
2002
24
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene. (11446414)
2001
25
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation. (11323423)
2001
26
SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia. (10955489)
2000
27
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (10446171)
1999
28
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. (10364523)
1999
29
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. (9678706)
1998
30
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. (9002675)
1997
31
Acampomelic campomelic dysplasia: further radiographic variations. (9066880)
1997
32
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
33
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. (8566951)
1996
34
Aetiology of the skeletal dysmorphology syndrome campomelic dysplasia: expression of the Sox9 gene during chondrogenesis in mouse embryos. (8702178)
1996
35
Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene. (8702120)
1996
36
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. (8894698)
1996
37
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia. (8840554)
1996
38
A clinical and genetic study of campomelic dysplasia. (7666392)
1995
39
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. (8001137)
1994
40
Campomelic dysplasia without overt campomelia. (8281284)
1993
41
Picture of the month. Campomelic dysplasia. (8427248)
1993
42
Campomelic dysplasia: evidence of autosomal dominant inheritance. (8411055)
1993
43
Campomelic dysplasia without overt campomelia. (1342867)
1992
44
In utero ultrasonographic features of campomelic dysplasia. (2694152)
1989
45
Bronchoscopic evaluation of airway obstruction in campomelic dysplasia. (3670910)
1987
46
Prenatal diagnosis of campomelic dysplasia by ultrasonography. (3883340)
1985
47
Orthopaedic problems associated with survival in campomelic dysplasia. (6705404)
1984
48
Sonographic and radiologic findings in campomelic dysplasia. (6603755)
1983
49
Sex-reversed XY females with campomelic dysplasia are H-Y negative. (7196380)
1981
50
Campomelic dysplasia. Further elucidation of a distinct entity. (7361736)
1980

Genetic Variations for Campomelic Dysplasia

Expression for genes affiliated with Campomelic Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 52QIAGEN
See all sources

Pathways related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SOX5, SOX9, SOX10, COL2A1
29.4SOX5, COL2A1, SOX6, SOX9
3
Hide members
7.7SOX10, COL2A1, COL9A2, SOX14, SOX8, SOX21

Compounds for genes affiliated with Campomelic Dysplasia

Sources:
45Novoseek
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Compounds related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmrt4510.1SRY, SOX9

GO Terms for genes affiliated with Campomelic Dysplasia

Sources:
16Gene Ontology
See all sources

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

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Sources for Campomelic Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet