MCID: DYS018
MIFTS: 46

Dysostosis malady

Bone diseases category
Download this MalaCard

Summaries for Dysostosis

About this section


Fully expand this MalaCard
Wikipedia:65 A dysostosis is a disorder of the development of bone, in particular affecting ossification. more...

MalaCards based summary: 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:8 A bone development disease that results in defective ossification of located in bone.

Aliases & Classifications for Dysostosis

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT
See all sources

Dysostosis, Aliases & Descriptions:

Name: Dysostosis 8 10 44
 
Dysostoses 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:1934
MeSH34 D004413
SNOMED-CT57 109420003
NCIt39 C34560

Related Diseases for Dysostosis

About this section

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

(show top 50)    (show all 263)
idRelated DiseaseScoreTop Affiliating Genes
1spondylocostal dysostosis31.1DLL3, LFNG, HES7
2spondylocostal dysostosis 130.3HES7, LFNG, DLL3
3ellis-van creveld syndrome29.8EVC2, EVC
4polydactyly29.8EVC2, EVC
5congenital heart disease29.6EVC2, EVC
6nager acrofacial dysostosis10.7
7treacher collins syndrome10.6
8weyers acrofacial dysostosis10.5
9mandibulofacial dysostosis with microcephaly10.5
10crouzon syndrome10.4
11acrofrontofacionasal dysostosis syndrome10.4
12miller syndrome10.4
13acrofacial dysostosis palagonia type10.4
14spondyloepiphyseal dysplasia with congenital joint dislocations10.3
15craniofacial dysostosis with diaphyseal hyperplasia10.3
16cleidocranial dysplasia10.3
17acrofacial dysostosis rodriguez type10.3
18hypomandibular faciocranial dysostosis10.3
19mental retardation10.3
20acrofacial dysostosis catania type10.3
21acromelic frontonasal dysostosis10.3
22oculomaxillofacial dysostosis10.3
23acrodysostosis10.2
24microcephaly10.2
25maxillofacial dysostosis10.2
26spondylocostal dysostosis 210.2
27spondylospinal thoracic dysostosis10.2
28spondylocostal dysostosis, autosomal recessive10.2
29x-linked mandibulofacial dysostosis10.2
30cleft palate10.2
31dysostosis peripheral10.2
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
36goldenhar syndrome10.1
37binder syndrome10.1
38cleft lip10.1
39usher syndrome10.1
40syndactyly10.1
41acral dysostosis dyserythropoiesis syndrome10.1
42craniofacial dysostosis arthrogryposis progeroid appearence10.1
43frontofacionasal dysplasia10.1
44naguib-richieri-costa syndrome10.1
45spondylocostal dysostosis 410.1
46thoracopelvic dysostosis10.1
47spondylocostal dysostosis - anal and genitourinary malformations10.1
48fucosidosis10.1
49craniofrontonasal syndrome10.1
50coloboma10.1

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to dysostosis

Symptoms for Dysostosis

About this section

Drugs & Therapeutics for Dysostosis

About this section

Drug clinical trials:

Search ClinicalTrials for Dysostosis

Search NIH Clinical Center for Dysostosis

Genetic Tests for Dysostosis

About this section

Anatomical Context for Dysostosis

About this section

MalaCards organs/tissues related to Dysostosis:

32
Bone, Eye, Heart, Spleen, Kidney, Thyroid, Skin, Testes

FMA organs/tissues related to Dysostosis:

14
Bone

Animal Models for Dysostosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Dysostosis:

36
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

About this section

Articles related to Dysostosis:

(show top 50)    (show all 521)
idTitleAuthorsYear
1
Orodental findings in postaxial acrofacial dysostosis. (24959059)
2014
2
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. (22692683)
2012
3
Frontofacial advancement by internal distraction devices. A technical modification for the management of craniofacial dysostosis in early childhood. (22483446)
2012
4
Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation. (22565932)
2012
5
Inter- and intrafamilial expression of cleidocranial dysostosis]. (15301373)
2003
6
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (10700184)
2000
7
Oto-mandibulo-facial dysostosis: a case report. (11601181)
2000
8
Nager acrofacial dysostosis with autosomal dominant inheritance: implications for the otolaryngologist. (10964304)
2000
9
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. (9098488)
1997
10
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
11
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
12
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
13
Craniofacial dysostosis: airway obstruction and craniofacial surgery. (8976022)
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
Mandibulofacial Dysostosis with Microcephaly (24999515)
1993
18
Spondylo-costal dysostosis in two siblings. (1740902)
1992
19
Severe postaxial acrofacial dysostosis: an anatomic and angiographic study. (2333876)
1990
20
Management of developmental coxa vara in cleidocranial dysostosis. (2771815)
1989
21
Crouzon's craniofacial dysostosis in Kenya. (3355805)
1988
22
Le Fort II osteotomy in the treatment of maxillonasal dysostosis (Binder's syndrome). (3187793)
1988
23
Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome. (3425604)
1987
24
Cleidocranial dysostosis--autosomal dominant anomaly. (3867701)
1985
25
Prenatal diagnosis of mandibulofacial dysostosis. (6463027)
1984
26
Constitutional narrowness of the lumbar spinal canal and cheiro-lumbar dysostosis. (7072555)
1982
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

About this section

Expression for genes affiliated with Dysostosis

About this section
Expression patterns in normal tissues for genes affiliated with Dysostosis

Search GEO for disease gene expression data for Dysostosis.

Pathways for genes affiliated with Dysostosis

About this section

Pathways related to Dysostosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Delta-Notch Signaling Pathway37
Notch Signaling Pathway37
9.5DLL3, LFNG

Compounds for genes affiliated with Dysostosis

About this section

GO Terms for genes affiliated with Dysostosis

About this section

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:0073869.6LFNG, DLL3
2regulation of somitogenesisGO:0148079.5HES7, LFNG
3somitogenesisGO:0017569.2DLL3, LFNG, HES7
4smoothened signaling pathwayGO:0072249.1EVC2, EVC
5Notch signaling pathwayGO:0072199.0HES7, LFNG, DLL3
6skeletal system developmentGO:0015018.5HES7, DLL3, EVC

Products for genes affiliated with Dysostosis

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Dysostosis

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet