MCID: CMP005
MIFTS: 67

Campomelic Dysplasia malady

Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Campomelic Dysplasia

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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 based summary: Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to gonadal dysgenesis and dwarfism, and has symptoms including cleft palate, macrocephaly and malar flattening. An important gene associated with Campomelic Dysplasia is SOX9 (SRY (sex determining region Y)-box 9), and among its related pathways are Endochondral Ossification and Selected targets of ESR1. The compounds dmrt and deoxyribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include tibia or, bone and eye, and related mouse phenotype limbs/digits/tail.

Disease Ontology:10 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:23 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:47 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...

Wikipedia:65 Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many... more...

GeneReviews summary for campo-dysp

Aliases & Classifications for Campomelic Dysplasia

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Sources:
47OMIM, 10Disease Ontology, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 11diseasecard, 24GTR, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Campomelic Dysplasia, Aliases & Descriptions:

Name: Campomelic Dysplasia 47 10 65 21 43 22 23 12 45 49 62
Acampomelic Campomelic Dysplasia 47 10 11 22 62
Campomelic Dwarfism 21 43 23 49 62
Camptomelic Dysplasia 21 23 24 62
Campomelic Syndrome 21 23 62
Cmpd1 43 62
 
Cmpd 43 62
Campomelic Dysplasia with Autosomal Sex Reversal 47
Camptomelic Dwarfism 21
Cmpd1/sra1 43
Cmd1 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
campomelic dysplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal


External Ids:

OMIM47 114290
Disease Ontology10 DOID:0050463
MeSH35 D055036
Orphanet49 140
MESH via Orphanet36 D055036
ICD10 via Orphanet28 Q87.1
UMLS via Orphanet63 C1861922

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 for Campomelic Dysplasia

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Symptoms by clinical synopsis from OMIM:

114290

Clinical features from OMIM:

114290

Symptoms:

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

HPO human phenotypes related to Campomelic Dysplasia:

(show all 74)
id Description Frequency HPO Source Accession
1 cleft palate hallmark (90%) HP:0000175
2 macrocephaly hallmark (90%) HP:0000256
3 malar flattening hallmark (90%) HP:0000272
4 micrognathia hallmark (90%) HP:0000347
5 short neck hallmark (90%) HP:0000470
6 abnormality of the ribs hallmark (90%) HP:0000772
7 narrow chest hallmark (90%) HP:0000774
8 sprengel anomaly hallmark (90%) HP:0000912
9 laryngomalacia hallmark (90%) HP:0001601
10 respiratory insufficiency hallmark (90%) HP:0002093
11 scoliosis hallmark (90%) HP:0002650
12 recurrent fractures hallmark (90%) HP:0002757
13 tracheomalacia hallmark (90%) HP:0002779
14 abnormality of the fibula hallmark (90%) HP:0002991
15 abnormality of the tibia hallmark (90%) HP:0002992
16 abnormality of the hip bone hallmark (90%) HP:0003272
17 abnormality of bone mineral density hallmark (90%) HP:0004348
18 bowing of the long bones hallmark (90%) HP:0006487
19 abnormal vertebral ossification hallmark (90%) HP:0100569
20 male pseudohermaphroditism typical (50%) HP:0000037
21 ambiguous genitalia typical (50%) HP:0000062
22 hypertelorism typical (50%) HP:0000316
23 low-set, posteriorly rotated ears typical (50%) HP:0000368
24 proptosis typical (50%) HP:0000520
25 talipes typical (50%) HP:0001883
26 abnormality of the femur typical (50%) HP:0002823
27 short stature typical (50%) HP:0004322
28 sacrococcygeal pilonidal abnormality typical (50%) HP:0010767
29 hearing impairment occasional (7.5%) HP:0000365
30 ventriculomegaly occasional (7.5%) HP:0002119
31 malformation of the heart and great vessels occasional (7.5%) HP:0002564
32 kyphosis occasional (7.5%) HP:0002808
33 abnormality of the sense of smell occasional (7.5%) HP:0004408
34 depressed nasal bridge occasional (7.5%) HP:0005280
35 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
36 autosomal dominant inheritance HP:0000006
37 hydronephrosis HP:0000126
38 cleft palate HP:0000175
39 hydrocephalus HP:0000238
40 macrocephaly HP:0000256
41 wide anterior fontanel HP:0000260
42 small face HP:0000274
43 hypertelorism HP:0000316
44 micrognathia HP:0000347
45 high forehead HP:0000348
46 hearing impairment HP:0000365
47 low-set ears HP:0000369
48 blepharophimosis HP:0000581
49 11 pairs of ribs HP:0000878
50 hypoplastic scapulae HP:0000882
51 thin ribs HP:0000883
52 muscular hypotonia HP:0001252
53 failure to thrive HP:0001508
54 polyhydramnios HP:0001561
55 talipes equinovarus HP:0001762
56 respiratory distress HP:0002098
57 apnea HP:0002104
58 malformation of the heart and great vessels HP:0002564
59 kyphoscoliosis HP:0002751
60 tracheobronchomalacia HP:0002786
61 hip dislocation HP:0002827
62 hypoplastic iliac wings HP:0002866
63 fibular hypoplasia HP:0003038
64 shortening of all phalanges of the toes HP:0005035
65 thoracic hypoplasia HP:0005257
66 depressed nasal bridge HP:0005280
67 anterior tibial bowing HP:0006390
68 absent sternal ossification HP:0006628
69 hypoplastic cervical vertebrae HP:0008434
70 poorly ossified cervical vertebrae HP:0008477
71 neonatal short-limb short stature HP:0008921
72 shortening of all phalanges of fingers HP:0011910
73 sex reversal HP:0012245
74 short palpebral fissure HP:0012745

Drugs & Therapeutics for Campomelic Dysplasia

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Drug clinical trials:

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Search NIH Clinical Center for Campomelic Dysplasia

Genetic Tests for Campomelic Dysplasia

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Genetic tests related to Campomelic Dysplasia:

id Genetic test Affiliating Genes
1 Campomelic Dysplasia22 SOX9
2 Acampomelic Campomelic Dysplasia22
3 Camptomelic Dysplasia24

Anatomical Context for Campomelic Dysplasia

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MalaCards organs/tissues related to Campomelic Dysplasia:

33
Bone, Eye, Heart, Lung, Olfactory bulb, Pancreas, Testis

FMA organs/tissues related to Campomelic Dysplasia:

16
Tibia or

Animal Models for Campomelic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Campomelic Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL2A1, SOX9, SOX8, SOX10

Publications for Campomelic Dysplasia

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Articles related to Campomelic Dysplasia:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. (24451061)
2014
2
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation. (23564514)
2014
3
Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis. (25041778)
2014
4
Clinical Utility Gene Card for: campomelic dysplasia. (23047745)
2013
5
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
6
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. (24038782)
2013
7
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. (23551858)
2013
8
Mild Campomelic Dysplasia: Report on a Case and Review. (21373255)
2011
9
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. (22097155)
2011
10
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal. (21614988)
2011
11
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. (21284335)
2010
12
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. (20812307)
2010
13
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. (20513132)
2010
14
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. (17204049)
2007
15
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. (17352389)
2007
16
Prenatal diagnosis of campomelic dysplasia with three-dimensional ultrasound. (16586480)
2006
17
Differentiating campomelic dysplasia from Cumming syndrome. (15754354)
2005
18
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
19
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. (15806394)
2005
20
Variable expression of campomelic dysplasia in a father and his 46, XY daughter. (12687888)
2003
21
Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. (11857796)
2002
22
Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia. (12128229)
2002
23
Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome. (12205120)
2002
24
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene. (11446414)
2001
25
Pathological case of the month. Campomelic dysplasia. (10891031)
2000
26
SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia. (10955489)
2000
27
Prenatal diagnosis of campomelic dysplasia. (10976487)
2000
28
Acampomelic campomelic dysplasia with SOX9 mutation. (10951468)
2000
29
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (10446171)
1999
30
Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia. (10072439)
1999
31
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. (9724758)
1998
32
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. (9002675)
1997
33
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
34
Campomelic dysplasia associated with mandibular clefting. (8652083)
1996
35
A clinical and genetic study of campomelic dysplasia. (7666392)
1995
36
The role of SOX9 in autosomal sex reversal and campomelic dysplasia. (8570691)
1995
37
Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis. (7933045)
1994
38
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. (8001137)
1994
39
Campomelic dysplasia--an underdiagnosed condition? (8482284)
1993
40
Campomelic dysplasia without overt campomelia. (8281284)
1993
41
Campomelic Dysplasia (20301724)
1993
42
Picture of the month. Campomelic dysplasia. (8427248)
1993
43
Campomelic dysplasia without overt campomelia. (1342867)
1992
44
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. (1583645)
1992
45
Campomelic dysplasia without campomelia. (1560994)
1992
46
Temporal bone histopathological findings in campomelic dysplasia. (1613353)
1992
47
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. (1809232)
1991
48
A third case of bronchoscopic diagnosis of tracheobronchomalacia in campomelic dysplasia. (3374987)
1988
49
Roentgen rounds #90. Newborn with club feet and dislocatable hips, knees, and elbows. Campomelic dysplasia. (3453994)
1987
50
Absence of H-Y antigen in an XY female with campomelic dysplasia. (7196381)
1981

Variations for Campomelic Dysplasia

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

64 (show all 16)
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_008529
9SOX9p.Ala158ThrVAR_008530
10SOX9p.His165TyrVAR_008531rs28940282
11SOX9p.Ala76GluVAR_063642
12SOX9p.Met113ThrVAR_063643
13SOX9p.Met113ValVAR_063644
14SOX9p.His165GlnVAR_063645
15SOX9p.Pro170LeuVAR_063646
16SOX9p.Lys173GluVAR_063647

Clinvar genetic disease variations for Campomelic Dysplasia:

7
id Gene Variation Type Significance SNP ID Assembly Location
1SOX9NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter)single nucleotide variantPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
2SOX9SOX9, 583C-Tsingle nucleotide variantPathogenic
3SOX9NM_000346.3(SOX9): c.736dupC (p.Gln246Profs)duplicationPathogenicGRCh37Chr 17, 70119734: 70119734
4SOX9NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter)single nucleotide variantPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
5SOX9SOX9, 30-BP DELdeletionPathogenic
6SOX9NM_000346.3(SOX9): c.462C> G (p.Phe154Leu)single nucleotide variantPathogenicrs137853129GRCh37Chr 17, 70118890: 70118890
7SOX9SOX9, 1-BP INS, 1103AinsertionPathogenic

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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Pathways related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL2A1, SOX9
29.7COL9A2, SOX9
39.5SOX10, SOX9, COL2A1
4
Show member pathways
8.6COL2A1, SOX10, SOX8, SOX9, COL9A2

Compounds for genes affiliated with Campomelic Dysplasia

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Sources:
45Novoseek, 26HMDB
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Compounds related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmrt459.9SOX9, SRY
2deoxyribonucleic acid459.5SRY, ZFY
3alginate459.5SOX9, COL2A1
4zinc45 269.8ZFY, SOX9, SRY, COL2A1

GO Terms for genes affiliated with Campomelic Dysplasia

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Cellular components related to Campomelic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.8SRA1, SRY, KPNB1, WWP2, SOX9, SOX8

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:0200002010.2SOX9, SRY
2retinal rod cell differentiationGO:006022110.2SOX9, SOX8
3morphogenesis of a branching epitheliumGO:006113810.2SOX9, SOX8
4ureter morphogenesisGO:007219710.2SOX8, SOX9
5renal vesicle inductionGO:007203410.2SOX8, SOX9
6notochord developmentGO:003090310.2COL2A1, SOX9
7astrocyte fate commitmentGO:006001810.2SOX8, SOX9
8limb bud formationGO:006017410.1SOX9, COL2A1
9negative regulation of photoreceptor cell differentiationGO:004653310.1SOX9, SOX8
10metanephric nephron tubule formationGO:007228910.1SOX9, SOX8
11positive regulation of kidney developmentGO:009018410.1SOX8, SOX9
12positive regulation of gliogenesisGO:001401510.1SOX10, SOX8
13tissue homeostasisGO:000189410.1COL2A1, SOX9
14Sertoli cell developmentGO:006000910.1SOX8, SOX9
15negative regulation of myoblast differentiationGO:004566210.1SOX8, SOX9
16cartilage condensationGO:000150210.1SOX9, COL2A1
17positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.0SOX9, SOX8
18enteric nervous system developmentGO:004848410.0SOX10, SOX8
19peripheral nervous system developmentGO:00074229.9SOX8, SOX10
20neural crest cell migrationGO:00017559.9SOX8, SOX10
21cell maturationGO:00484699.9SOX8, SOX10
22retina development in camera-type eyeGO:00600419.9SOX9, SOX8
23cartilage developmentGO:00512169.9SOX9, COL2A1
24negative regulation of canonical Wnt signaling pathwayGO:00900909.8SOX9, SOX10
25oligodendrocyte differentiationGO:00487099.8SOX9, SOX8, SOX10
26skeletal system developmentGO:00015019.7SOX9, COL9A2, COL2A1
27collagen catabolic processGO:00305749.6COL9A2, COL2A1
28extracellular matrix organizationGO:00301989.5COL9A2, COL2A1, SOX9
29male gonad developmentGO:00085849.5SOX8, SOX9
30negative regulation of apoptotic processGO:00430669.3SOX10, SOX8, SOX9
31negative regulation of transcription, DNA-templatedGO:00458928.9SOX10, WWP2, SOX9, SOX8

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.5SRY, SOX9, SOX10
2extracellular matrix structural constituent conferring tensile strengthGO:00300209.3COL2A1, COL9A2
3transcription factor bindingGO:00081348.5SRY, WWP2, SOX8, SOX10

Products for genes affiliated with Campomelic Dysplasia

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Sources for Campomelic Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet