MCID: DYS018
MIFTS: 45

Dysostosis malady

Bone diseases category

Summaries for Dysostosis

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Wikipedia:66 A dysostosis is a disorder of the development of bone, in particular affecting ossification. more...

MalaCards: Dysostosis, also known as dysostoses, is related to spondylocostal dysostosis and spondylocostal dysostosis 1. An important gene associated with Dysostosis is HES7 (hes family bHLH transcription factor 7), and among its related pathways is Notch signaling pathway. Affiliated tissues include bone, bone and eye, and related mouse phenotypes are embryogenesis and craniofacial.

Disease Ontology:9 A bone development disease that results in defective ossification of located in bone.

Aliases & Classifications for Dysostosis

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

dysostosis 9 11 46
dysostoses 63


External Ids:

Disease Ontology9 DOID:1934
MeSH36 D004413
SNOMED-CT59 109420003
NCIt41 C34560

Related Diseases for Dysostosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Dysostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 258)
idRelated DiseaseScoreTop Affiliating Genes
1spondylocostal dysostosis31.1DLL3, LFNG, HES7
2spondylocostal dysostosis 130.3HES7, LFNG, DLL3
3ellis-van creveld syndrome29.9EVC2, EVC
4polydactyly29.9EVC2, EVC
5congenital heart disease29.8EVC2, EVC
6nager acrofacial dysostosis10.7
7treacher collins syndrome10.6
8weyers acrofacial dysostosis10.5
9crouzon syndrome10.4
10acrofrontofacionasal dysostosis syndrome10.4
11miller syndrome10.4
12mandibulofacial dysostosis with microcephaly10.4
13acrofacial dysostosis palagonia type10.3
14craniofacial dysostosis with diaphyseal hyperplasia10.3
15hypomandibular faciocranial dysostosis10.3
16mental retardation10.3
17cleidocranial dysplasia10.3
18acrofacial dysostosis catania type10.3
19acrofacial dysostosis rodriguez type10.3
20oculomaxillofacial dysostosis10.3
21spondyloepiphyseal dysplasia with congenital joint dislocations10.2
22acromelic frontonasal dysostosis10.2
23maxillofacial dysostosis10.2
24spondylocostal dysostosis 210.2
25microcephaly10.2
26acrodysostosis10.2
27spondylocostal dysostosis, autosomal recessive10.2
28spondylospinal thoracic dysostosis10.2
29treacher collins syndrome 310.2
30x-linked mandibulofacial dysostosis10.2
31cleft palate10.2
32growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.2
33metaphyseal dysostosis mental retardation conductive deafness10.2
34spinal dysostosis type anhalt10.2
35microtia10.2
36spondylocostal dysostosis - anal and genitourinary malformations10.2
37cleft lip10.1
38syndactyly10.1
39binder syndrome10.1
40acral dysostosis dyserythropoiesis syndrome10.1
41craniofacial dysostosis arthrogryposis progeroid appearence10.1
42dysostosis peripheral10.1
43naguib-richieri-costa syndrome10.1
44spondylocostal dysostosis 410.1
45thoracopelvic dysostosis10.1
46goldenhar syndrome10.0
47coloboma10.0
48usher syndrome10.0
49pycnodysostosis10.0
50acrofacial dysostosis preis type10.0

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to dysostosis

Symptoms for Dysostosis

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Drugs & Therapeutics for Dysostosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dysostosis

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Anatomical Context for Dysostosis

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Dysostosis:

34
Bone, Eye, Heart, Kidney, Thyroid, Skin, Testes

FMA organs/tissues related to Dysostosis:

15
Bone

Animal Models for Dysostosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Dysostosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1DLL3, LFNG, HES7
2MP:00053828.6EVC2, EVC, DLL3
3MP:00053788.0HES7, LFNG, DLL3, EVC
4MP:00053717.9EVC2, EVC, DLL3, LFNG, HES7
5MP:00053907.8HES7, LFNG, DLL3, EVC, EVC2
6MP:00107687.7HES7, LFNG, DLL3, EVC, EVC2

Publications for Dysostosis

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53PubMed
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Articles related to Dysostosis:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. (22692683)
2012
2
Frontofacial advancement by internal distraction devices. A technical modification for the management of craniofacial dysostosis in early childhood. (22483446)
2012
3
Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation. (22565932)
2012
4
Inter- and intrafamilial expression of cleidocranial dysostosis]. (15301373)
2003
5
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (10700184)
2000
6
Oto-mandibulo-facial dysostosis: a case report. (11601181)
2000
7
Nager acrofacial dysostosis with autosomal dominant inheritance: implications for the otolaryngologist. (10964304)
2000
8
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. (9098488)
1997
9
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
10
A new observation of two cases of acrofacial dysostosis type GenAce-Wiedemann in a family--remarks on the mode of inheritance: report on two sibs. (8870922)
1996
11
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. (8644736)
1996
12
Craniofacial dysostosis: airway obstruction and craniofacial surgery. (8976022)
1996
13
Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. (8826434)
1996
14
Acral dysostosis dyserythropoiesis syndrome. (7641772)
1995
15
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. (7920632)
1994
16
Confirmation of the mandibulofacial dysostosis, Toriello type. (8465866)
1993
17
Spondylo-costal dysostosis in two siblings. (1740902)
1992
18
Severe postaxial acrofacial dysostosis: an anatomic and angiographic study. (2333876)
1990
19
Management of developmental coxa vara in cleidocranial dysostosis. (2771815)
1989
20
Crouzon's craniofacial dysostosis in Kenya. (3355805)
1988
21
Le Fort II osteotomy in the treatment of maxillonasal dysostosis (Binder's syndrome). (3187793)
1988
22
Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome. (3425604)
1987
23
Cleidocranial dysostosis--autosomal dominant anomaly. (3867701)
1985
24
Prenatal diagnosis of mandibulofacial dysostosis. (6463027)
1984
25
Constitutional narrowness of the lumbar spinal canal and cheiro-lumbar dysostosis. (7072555)
1982
26
Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. (7452413)
1981
27
Oral surgical management of cleidocranial dysostosis. (6934817)
1980
28
Clinical and radiologic aspects of maxillonasal dysostosis (Binder syndrome). (7440178)
1980
29
Cleidocranial dysostosis. (546997)
1979
30
Postaxial acrofacial dysostosis syndrome. (501501)
1979
31
Early skeletal release in the infant with craniofacial dysostosis: the role of the sphenozygomatic suture. (693662)
1978
32
Cleidocranial dysostosis: review of the literature and report of case. (271209)
1978
33
Familial metaphyseal dysostosis: a case report. (873968)
1977
34
Prenatal mandibulofacial dysostosis (Treacher Collins syndrome). (264276)
1977
35
The otologic manifestations of mandibulofacial dysostosis. (888269)
1977
36
Mandibulofacial dysostosis (Treacher--Collins syndrome). (903733)
1977
37
Cleidocranial dysostosis. A review and case report. (1060018)
1976
38
A morphologic description of a dry skull with mandibulofacial dysostosis. (1058519)
1975
39
Evidence for an autosomal recessive form of cleidocranial dysostosis. (1149318)
1975
40
Peripheral dysostosis: an autosomal recessive form. (4461057)
1974
41
Craniofacial dysostosis-either Stanesco dysostosis or a new entity. (4461088)
1974
42
Correction of the skeletal anomalies of oto-mandibular dysostosis. (4533024)
1974
43
Cleidocranial dysostosis: report of a case. (4585072)
1973
44
Cleidocranial dysostosis: report of 4 cases. (4502590)
1972
45
Mandibulo-facial dysostosis with syndactyly. (4319056)
1970
46
A concordant craniofacial dysostosis with enlarged parietal foramina in twins. (5762068)
1969
47
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? (6020652)
1967
48
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). (6024864)
1967
49
Mandibulofacial dysostosis (Treacher Collins syndrome). (14408937)
1960
50
Treacher Collins syndrome (dysostosis mandibulo-facialis). (15417344)
1950

Variations for Dysostosis

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Expression for genes affiliated with Dysostosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dysostosis

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Pathways for genes affiliated with Dysostosis

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51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Dysostosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Delta-Notch Signaling Pathway39
Notch Signaling Pathway39
9.5DLL3, LFNG

Compounds for genes affiliated with Dysostosis

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GO Terms for genes affiliated with Dysostosis

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17Gene Ontology
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Cellular components related to Dysostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.1EVC2, EVC
2ciliary membraneGO:0601708.8EVC2, EVC

Biological processes related to Dysostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1compartment pattern specificationGO:0073869.6DLL3, LFNG
2regulation of somitogenesisGO:0148079.5LFNG, HES7
3somitogenesisGO:0017569.2DLL3, LFNG, HES7
4smoothened signaling pathwayGO:0072249.1EVC2, EVC
5Notch signaling pathwayGO:0072199.0HES7, LFNG, DLL3
6skeletal system developmentGO:0015018.5EVC, DLL3, HES7

Products for genes affiliated with Dysostosis

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Sources for Dysostosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet