CMD1
MCID: CMP005
MIFTS: 68

Campomelic Dysplasia (CMD1) malady

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

Summaries for Campomelic Dysplasia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 short stature/dwarfism/nanism, male pseudohermaphrodism/lack of virilisation and ambiguous genitalia. 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 eye, 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

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

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
cmpd 42
cmd1 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

About this section
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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

114290,211990,602196

Symptoms:

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

Drugs & Therapeutics for Campomelic Dysplasia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Campomelic Dysplasia:

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

FMA organs/tissues related to Campomelic Dysplasia:

14
Tibia or

Animal Models for Campomelic Dysplasia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Campomelic Dysplasia:

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

Publications for Campomelic Dysplasia

About this section
Sources:
50PubMed
See all sources

Articles related to Campomelic Dysplasia:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Clinical Utility Gene Card for: campomelic dysplasia. (23047745)
2013
2
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. (24038782)
2013
3
Acampomelic campomelic dysplasia in genetic male without sex reversal. (22202956)
2012
4
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene. (21962881)
2012
5
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. (21614988)
2011
6
Campomelic dysplasia and malignant hyperthermia. (22691592)
2011
7
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. (19231556)
2009
8
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. (19449405)
2009
9
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. (19253311)
2009
10
Campomelic dysplasia: case report and review. (18165831)
2008
11
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. (17352389)
2007
12
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. (16586480)
2006
13
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
14
Fine mapping of chromosome 17 translocation breakpoints &gt; or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. (15717285)
2005
15
A fatal Turkish case of campomelic dysplasia. (15008578)
2004
16
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
17
Variable expression of campomelic dysplasia in a father and his 46, XY daughter. (12687888)
2003
18
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. (12783851)
2003
19
Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. (11857796)
2002
20
Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia. (12128229)
2002
21
The phenotype of survivors of campomelic dysplasia. (12161603)
2002
22
Genetic study of SOX9 in a case of campomelic dysplasia. (11223854)
2001
23
Pathological case of the month. Campomelic dysplasia. (10891031)
2000
24
Prenatal diagnosis of campomelic dysplasia. (10976487)
2000
25
Acampomelic campomelic dysplasia with SOX9 mutation. (10951468)
2000
26
Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia. (10072439)
1999
27
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. (9724758)
1998
28
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
29
Campomelic dysplasia in a twin pregnancy. A case report. (9987579)
1998
30
Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia. (9452058)
1998
31
Campomelic dysplasia associated with mandibular clefting. (8652083)
1996
32
Aetiology of the skeletal dysmorphology syndrome campomelic dysplasia: expression of the Sox9 gene during chondrogenesis in mouse embryos. (8702178)
1996
33
A clinical and genetic study of campomelic dysplasia. (7666392)
1995
34
The role of SOX9 in autosomal sex reversal and campomelic dysplasia. (8570691)
1995
35
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. (7485151)
1995
36
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. (8001137)
1994
37
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. (7990924)
1994
38
Management of maxillofacial deformities in a patient with campomelic dysplasia. (8189301)
1994
39
Campomelic dysplasia--an underdiagnosed condition? (8482284)
1993
40
Campomelic Dysplasia (20301724)
1993
41
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. (8348155)
1993
42
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. (1583645)
1992
43
Temporal bone histopathological findings in campomelic dysplasia. (1613353)
1992
44
Acampomelic campomelic dysplasia. (2602025)
1989
45
A third case of bronchoscopic diagnosis of tracheobronchomalacia in campomelic dysplasia. (3374987)
1988
46
Roentgen rounds #90. Newborn with club feet and dislocatable hips, knees, and elbows. Campomelic dysplasia. (3453994)
1987
47
Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories. (3822582)
1987
48
Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case. (4069773)
1985
49
Absence of H-Y antigen in an XY female with campomelic dysplasia. (7196381)
1981
50
Campomelic dysplasia. Further elucidation of a distinct entity. (7361736)
1980

Genetic Variations for Campomelic Dysplasia

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 51QIAGEN
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
29.4COL2A1, SOX6, SOX9, SOX5
3
Hide members
7.7SOX8, COL2A1, COL9A2, SOX14, SOX6, SOX10

Compounds for genes affiliated with Campomelic Dysplasia

About this section
Sources:
44Novoseek
See all sources

Compounds related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmrt4410.1SRY, SOX9

GO Terms for genes affiliated with Campomelic Dysplasia

About this section
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

Products for genes affiliated with Campomelic Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Campomelic Dysplasia

About this section
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