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

Aliases & Descriptions for Campomelic Dysplasia:

Name: Campomelic Dysplasia 54 12 71 23 50 24 25 56 66 52 42 14 69
Acampomelic Campomelic Dysplasia 54 12 24 66 13 69
Camptomelic Dysplasia 23 24 25 66 29
Campomelic Dwarfism 23 24 25 56
Campomelic Dysplasia with Autosomal Sex Reversal 54 66 29
Campomelic Syndrome 23 24 25
Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 66 29
Camptomelic Dwarfism 23 24
Cmpd1/sra1 50 66
Cmpd1 50 66
Cmpd 50 66
Cmd1 50 66
Chronic Myeloproliferative Disorder 69
Familial Dilated Cardiomyopathy 69

Characteristics:

Orphanet epidemiological data:

56
campomelic dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

GeneReviews:

23
campomelic dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Sox9 coding region mutations are completely penetrant...

Classifications:



External Ids:

OMIM 54 114290
Disease Ontology 12 DOID:0050463
MeSH 42 D055036
SNOMED-CT 64 74928006
Orphanet 56 ORPHA140
MESH via Orphanet 43 D055036
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 70 C1861922

Summaries for Campomelic Dysplasia

NIH Rare Diseases : 50 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 macrocephaly, hypertelorism and low-set ears. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box 9), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Salivary secretion. Affiliated tissues include bone, eye and heart, and related phenotypes are digestive/alimentary and respiratory system

Disease Ontology : 12 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 : 54 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...

UniProtKB/Swiss-Prot : 66 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: NBK1760

Related Diseases for Campomelic Dysplasia

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



Diseases related to Campomelic Dysplasia

Symptoms & Phenotypes for Campomelic Dysplasia

Symptoms by clinical synopsis from OMIM:

114290

Clinical features from OMIM:

114290

Human phenotypes related to Campomelic Dysplasia:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 low-set ears 56 32 Frequent (79-30%) HP:0000369
4 short neck 56 32 Very frequent (99-80%) HP:0000470
5 respiratory insufficiency 56 32 Very frequent (99-80%) HP:0002093
6 scoliosis 56 32 Very frequent (99-80%) HP:0002650
7 kyphosis 56 32 Occasional (29-5%) HP:0002808
8 hearing impairment 56 32 Occasional (29-5%) HP:0000365
9 depressed nasal bridge 56 32 Occasional (29-5%) HP:0005280
10 hypoplastic inferior ilia 56 32 Very frequent (99-80%) HP:0008821
11 short stature 56 32 Frequent (79-30%) HP:0004322
12 laryngomalacia 56 32 Very frequent (99-80%) HP:0001601
13 cleft palate 56 32 Very frequent (99-80%) HP:0000175
14 micrognathia 56 32 Very frequent (99-80%) HP:0000347
15 narrow chest 56 32 Very frequent (99-80%) HP:0000774
16 flat face 56 32 Very frequent (99-80%) HP:0012368
17 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
18 hip dislocation 56 32 Very frequent (99-80%) HP:0002827
19 talipes equinovarus 56 32 Frequent (79-30%) HP:0001762
20 recurrent fractures 56 32 Very frequent (99-80%) HP:0002757
21 proptosis 56 32 Frequent (79-30%) HP:0000520
22 skin dimples 56 32 Frequent (79-30%) HP:0010781
23 abnormality of the sense of smell 56 32 Occasional (29-5%) HP:0004408
24 male pseudohermaphroditism 56 32 Frequent (79-30%) HP:0000037
25 ambiguous genitalia 56 32 Frequent (79-30%) HP:0000062
26 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
27 femoral bowing 56 32 Frequent (79-30%) HP:0002980
28 11 pairs of ribs 56 32 Very frequent (99-80%) HP:0000878
29 tracheobronchomalacia 56 32 Very frequent (99-80%) HP:0002786
30 tibial bowing 56 32 Very frequent (99-80%) HP:0002982
31 fibular hypoplasia 56 32 Very frequent (99-80%) HP:0003038
32 small abnormally formed scapulae 56 32 Very frequent (99-80%) HP:0006584
33 hypoplasia of olfactory tract 56 32 Occasional (29-5%) HP:0007036
34 poorly ossified cervical vertebrae 56 32 Very frequent (99-80%) HP:0008477
35 respiratory distress 32 HP:0002098
36 hydrocephalus 32 HP:0000238
37 muscular hypotonia 32 HP:0001252
38 failure to thrive 32 HP:0001508
39 bowing of the long bones 56 Very frequent (99-80%)
40 malformation of the heart and great vessels 56 Occasional (29-5%)
41 short long bone 56 Very frequent (99-80%)
42 apnea 32 HP:0002104
43 depressed nasal ridge 32 HP:0000457
44 thin ribs 32 HP:0000883
45 hypoplastic iliac wing 32 HP:0002866
46 polyhydramnios 32 HP:0001561
47 high forehead 32 HP:0000348
48 blepharophimosis 32 HP:0000581
49 disproportionate short-limb short stature 32 HP:0008873
50 neonatal short-limb short stature 32 HP:0008921

UMLS symptoms related to Campomelic Dysplasia:


respiratory distress

MGI Mouse Phenotypes related to Campomelic Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.43 BCR COL2A1 KCNJ2 PDGFRA SOX10 SOX9
2 respiratory system MP:0005388 9.02 COL2A1 KCNJ2 PDGFRA SOX10 SOX9

Drugs & Therapeutics for Campomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Campomelic Dysplasia

Cochrane evidence based reviews: campomelic dysplasia

Genetic Tests for Campomelic Dysplasia

Genetic tests related to Campomelic Dysplasia:

id Genetic test Affiliating Genes
1 Camptomelic Dysplasia 29
2 Campomelic Dysplasia with Autosomal Sex Reversal 29
3 Acampomelic Campomelic Dysplasia with Autosomal Sex Reversal 29
4 Campomelic Dysplasia 24 SOX9
5 Acampomelic Campomelic Dysplasia 24

Anatomical Context for Campomelic Dysplasia

MalaCards organs/tissues related to Campomelic Dysplasia:

39
Bone, Eye, Heart, Skin, Pancreas, Testis

The Foundational Model of Anatomy Ontology organs/tissues related to Campomelic Dysplasia:

18
Tibia Or

Publications for Campomelic Dysplasia

Articles related to Campomelic Dysplasia:

(show top 50) (show all 115)
id Title Authors Year
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

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

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 SOX9 p.Pro108Leu VAR_003735
2 SOX9 p.Phe112Leu VAR_003736
3 SOX9 p.Phe112Ser VAR_003737
4 SOX9 p.Ala119Val VAR_003738
5 SOX9 p.Trp143Arg VAR_003739
6 SOX9 p.Arg152Pro VAR_003740
7 SOX9 p.Pro170Arg VAR_003741
8 SOX9 p.Phe154Leu VAR_008529 rs137853129
9 SOX9 p.Ala158Thr VAR_008530 rs137853130
10 SOX9 p.His165Tyr VAR_008531 rs28940282
11 SOX9 p.Ala76Glu VAR_063642 rs137853128
12 SOX9 p.Met113Thr VAR_063643
13 SOX9 p.Met113Val VAR_063644
14 SOX9 p.His165Gln VAR_063645
15 SOX9 p.Pro170Leu VAR_063646
16 SOX9 p.Lys173Glu VAR_063647 rs104894647
17 SOX9 p.His169Pro VAR_078491
18 SOX9 p.His169Gln VAR_078492

ClinVar genetic disease variations for Campomelic Dysplasia:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 SOX9 SOX9, 583C-T single nucleotide variant Pathogenic
2 SOX9 SOX9, 1-BP INS, 783G insertion Pathogenic
3 SOX9 SOX9, 4-BP INS insertion Pathogenic
4 SOX9 NM_000346.3(SOX9): c.736dupC (p.Gln246Profs) duplication Pathogenic rs587776541 GRCh37 Chromosome 17, 70119734: 70119734
5 SOX9 NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
6 SOX9 NM_000346.3(SOX9): c.517A> G (p.Lys173Glu) single nucleotide variant Pathogenic rs104894647 GRCh37 Chromosome 17, 70118945: 70118945
7 SOX9 SOX9, 1-BP DEL, 296G deletion Pathogenic
8 SOX9 NM_000346.3(SOX9): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs28940282 GRCh37 Chromosome 17, 70118921: 70118921
9 SOX9 NM_000346.3(SOX9): c.227C> A (p.Ala76Glu) single nucleotide variant Pathogenic rs137853128 GRCh37 Chromosome 17, 70117759: 70117759
10 SOX9 SOX9, 30-BP DEL deletion Pathogenic
11 SOX9 NM_000346.3(SOX9): c.462C> G (p.Phe154Leu) single nucleotide variant Pathogenic rs137853129 GRCh37 Chromosome 17, 70118890: 70118890
12 SOX9 NM_000346.3(SOX9): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs137853130 GRCh37 Chromosome 17, 70118900: 70118900
13 SOX9 SOX9, 1-BP INS, 1103A insertion Pathogenic
14 SOX9 NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter) single nucleotide variant Pathogenic rs80338688 GRCh37 Chromosome 17, 70120318: 70120318
15 SOX9 NC_000017.11: g.(?_70643580)_(71603774_?)del deletion Pathogenic NCBI36 Chromosome 17, 66151316: 67111510
16 SOX9 NM_000346.3(SOX9): c.1249C> T (p.Gln417Ter) single nucleotide variant Pathogenic rs886043831 GRCh37 Chromosome 17, 70120247: 70120247
17 SOX9 NM_000346.3(SOX9): c.1427T> C (p.Met476Thr) single nucleotide variant Likely pathogenic rs1057518669 GRCh37 Chromosome 17, 70120425: 70120425

Expression for Campomelic Dysplasia

Search GEO for disease gene expression data for Campomelic Dysplasia.

Pathways for Campomelic Dysplasia

Pathways related to Campomelic Dysplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.79 CALM3 KCNJ16 KCNJ2
2
Show member pathways
11.55 CALM3 KCNJ16 KCNJ2
3 11.14 COL2A1 SOX10 SOX9
4 10.96 SOX9 SRY
5 10.7 PDGFRA SOX10 SOX9

GO Terms for Campomelic Dysplasia

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.67 COL2A1 PDGFRA SOX9
2 chondrocyte differentiation GO:0002062 9.54 COL2A1 SOX9
3 oligodendrocyte differentiation GO:0048709 9.52 SOX10 SOX9
4 platelet-derived growth factor receptor signaling pathway GO:0048008 9.51 BCR PDGFRA
5 potassium ion import GO:0010107 9.48 KCNJ16 KCNJ2
6 cartilage condensation GO:0001502 9.46 COL2A1 SOX9
7 tissue homeostasis GO:0001894 9.43 COL2A1 SOX9
8 male sex determination GO:0030238 9.4 SOX9 SRY
9 notochord development GO:0030903 9.37 COL2A1 SOX9
10 limb bud formation GO:0060174 9.32 COL2A1 SOX9
11 positive regulation of male gonad development GO:2000020 9.26 SOX9 SRY
12 otic vesicle development GO:0071599 9.16 COL2A1 SOX9
13 lacrimal gland development GO:0032808 8.96 SOX10 SOX9
14 morphogenesis of a branching epithelium GO:0061138 8.62 SOX10 SOX9

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

id Name GO ID Score Top Affiliating Genes
1 inward rectifier potassium channel activity GO:0005242 9.26 KCNJ16 KCNJ2
2 platelet-derived growth factor binding GO:0048407 9.16 COL2A1 PDGFRA
3 G-protein activated inward rectifier potassium channel activity GO:0015467 8.96 KCNJ16 KCNJ2
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.8 SOX10 SOX9 SRY

Sources for Campomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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