MCID: DYS018
MIFTS: 49

Dysostosis malady

Summaries for Dysostosis

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 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 DLL3 (delta-like 3 (Drosophila)), and among its related pathways are Other types of O-glycan biosynthesis and Pre-NOTCH Processing in Golgi. The compounds heparan sulfate and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and eye, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:8 A bone development disease that results in defective ossification of located in bone.

Aliases & Classifications for Dysostosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

dysostosis 8 10 44
dysostoses 60


External Ids:

Disease Ontology8 DOID:1934
MeSH34 D004413
SNOMED-CT56 109420003
NCIt39 C34560

Related Diseases for Dysostosis

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17GeneCards, 18GeneDecks
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Diseases related to Dysostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 240)
idRelated DiseaseScoreTop Affiliating Genes
1spondylocostal dysostosis31.1HES7, DLL3, POFUT1, TBX6, MESP2, LFNG
2spondylocostal dysostosis 130.3LFNG, DLL3, MESP2, HES7
3ellis-van creveld syndrome30.0EVC, EVC2
4dwarfism29.9FGFR2
5polydactyly29.8FGFR2, EVC2, EVC
6choanal atresia29.6EFTUD2
7treacher collins syndrome10.5
8nager acrofacial dysostosis10.5
9weyers acrofacial dysostosis10.4
10crouzon syndrome10.4
11acrofrontofacionasal dysostosis syndrome10.4
12spondylocostal dysostosis, autosomal recessive10.3
13acrofacial dysostosis palagonia type10.3
14craniofacial dysostosis with diaphyseal hyperplasia10.3
15genee-wiedemann syndrome10.3
16cleidocranial dysplasia10.2
17acrofacial dysostosis catania type10.2
18acrofacial dysostosis rodriguez type10.2
19cleft palate10.2
20oculomaxillofacial dysostosis10.2
21spondyloepiphyseal dysplasia with congenital joint dislocations10.2
22hypomandibular faciocranial dysostosis10.2
23spondylocostal dysostosis 210.2
24mandibulofacial dysostosis, guion-almeida type10.2
25acrodysostosis10.2
26microcephaly10.2
27x-linked mandibulofacial dysostosis10.2
28acromelic frontonasal dysostosis10.1
29spinal dysostosis type anhalt10.1
30frontofacionasal dysplasia10.1
31treacher collins syndrome 310.1
32metaphyseal dysostosis mental retardation conductive deafness10.1
33spondylospinal thoracic dysostosis10.1
34binder syndrome10.1
35goldenhar syndrome10.1
36syndactyly10.1
37cleft lip10.1
38naguib-richieri-costa syndrome10.1
39spondylocostal dysostosis 410.1
40craniofacial dysostosis arthrogryposis progeroid appearence10.1
41dysostosis peripheral10.1
42growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.1
43maxillofacial dysostosis10.1
44thoracopelvic dysostosis10.1
45spondylocostal dysostosis, autosomal dominant10.1
46spondylocostal dysostosis - anal and genitourinary malformations10.1
47fucosidosis10.0
48coloboma10.0
49usher syndrome10.0
50pycnodysostosis10.0

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to dysostosis

Clinical Features for Dysostosis

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Drugs & Therapeutics for Dysostosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards, 14FMA
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MalaCards organs/tissues related to Dysostosis:

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

FMA organs/tissues related to Dysostosis:

14
Bone

Animal Models for Dysostosis or affiliated genes

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36MGI
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Publications for Dysostosis

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50PubMed
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Articles related to Dysostosis:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
Cleidocranial dysostosis. (23823271)
2013
2
Long-term surgical cure of severe obstructive sleep apnea in an adult patient with craniofacial dysostosis (Crouzon's syndrome): a case report and literature review. (20740321)
2011
3
General practitioner's radiology case 93. Craniofacial dysostosis (Crouzon's disease). (23193868)
2011
4
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. (20503311)
2010
5
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. (18388793)
2008
6
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (18513679)
2008
7
New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. (17351350)
2007
8
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. (12791036)
2003
9
Further delineation of mandibulofacial dysostosis: Toriello type. (12002155)
2002
10
Chest-wall reconstruction in spondylocostal dysostosis: rare use of a latissimus dorsi flap. (12142673)
2002
11
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (10700184)
2000
12
Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case. (10925376)
2000
13
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. (11146473)
2000
14
On the nosology of severe acrofacial dysostosis with limb deficiency. (10215555)
1999
15
Ischio-spinal dysostosis: a previously unrecognised combination of malformations. (10201042)
1999
16
Deletion of 1q in a patient with acrofacial dysostosis. (10051162)
1999
17
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
18
Acute upper limb ischemia resulting from cleidocranial dysostosis. (9372830)
1997
19
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
20
Mandibulofacial dysostosis. Case report. (7710415)
1995
21
Monozygotic twins discordant for spondylocostal dysostosis. (7747763)
1994
22
Atypical acrofacial dysostosis syndrome. (8030666)
1994
23
Spondylothoracic Dysostosis (20687255)
1993
24
Miller postaxial acrofacial dysostosis. The phenotypic changes with age. (8357564)
1993
25
Autosomal recessive form of mandibular dysostosis. (2333877)
1990
26
Acrofacial dysostosis with ambiguous genitalia. (2260569)
1990
27
The operative treatment of isolated craniofacial dysostosis (plagiocephaly): a comparison of the unilateral and bilateral techniques. (2326350)
1990
28
Lacrimal drainage anomalies in mandibulofacial dysostosis. (2333920)
1990
29
Early operation in craniofacial dysostosis. (2773496)
1989
30
Juvenile chronic myelogenous leukaemia and cleidocranial dysostosis. (3166445)
1988
31
Nager acrofacial dysostosis: evidence for apparent heterogeneity. (3189396)
1988
32
Miller's syndrome. Anaesthetic management of postaxial acrofacial dysostosis. (3661933)
1987
33
Cleidocranial dysostosis and schwannoma. (3736814)
1986
34
The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome). (3763724)
1986
35
Severe adult hypersomnia--sleep apnea syndrome in craniofacial dysostosis. (3749615)
1986
36
Sonographic appearance of craniofacial dysostosis in utero. (3529223)
1986
37
Cleidocranial dysostosis--autosomal dominant anomaly. (3867701)
1985
38
Cheirolumbar dysostosis and constitutional narrowness of the cervical spinal canal. (4023731)
1985
39
Cleidocranial dysostosis syndrome with associated chilblains and Raynaud's phenomenon. (509765)
1979
40
Spondylothoracic dysostosis: report of two cases and review of the literature. (350188)
1978
41
Mandibulofacial dysostosis. (272248)
1978
42
Cleft palate and congenital palatopharyngeal incompetency in mandibulofacial dysostosis: frequency and problems in treatment. (1067147)
1976
43
Cleidocranial dysostosis--a prosthodontic problem. (4595888)
1974
44
Cleidocranial dysostosis. A review of 40 new cases. (4833883)
1974
45
An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome). (4697859)
1973
46
An early case of Hurler's syndrome (Hunter-Hurler-Pfaundler syndrome, mucopolysaccharidosis I, dysostosis multiplex): report of a case. (4625583)
1972
47
Cleidocranial dysplasia (formerly cleidocranial dysostosis) with dental anomalies (two cases). (5173233)
1971
48
Histopathology of the temporal bones in mandibulofacial dysostosis (Treacher-Collins syndrome). (5303735)
1968
49
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? (6020652)
1967
50
Mandibulofacial dysostosis (Treacher Collins syndrome). (14408937)
1960

Genetic Variations for Dysostosis

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Expression for genes affiliated with Dysostosis

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1BioGPS, 15Gene 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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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Dysostosis

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44Novoseek, 24HMDB
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Compounds related to Dysostosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate44 2411.1FGFR2, CHST3, ARSA
2sulfate44 2410.8FGFR2, CHST3, ARSA, ARSD
3glycosaminoglycan449.8ARSA, CHST3, FGFR2

GO Terms for genes affiliated with Dysostosis

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16Gene Ontology
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Cellular components related to Dysostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cilium membraneGO:06017010.3EVC, EVC2

Biological processes related to Dysostosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1compartment pattern specificationGO:00738610.3DLL3, LFNG
2mesoderm developmentGO:00749810.3TBX6, HES7
3signal transduction involved in regulation of gene expressionGO:02301910.2TBX6, MESP2, MESP1
4mesodermal cell migrationGO:00807810.2MESP2, MESP1
5skeletal system developmentGO:00150110.1HES7, DLL3, EVC, PAX1
6bone morphogenesisGO:06034910.1FGFR2, PAX1
7somitogenesisGO:00175610.1PAX1, DLL3, POFUT1, MESP2, HES7
8positive regulation of Notch signaling pathwayGO:0457479.9LFNG, MESP1
9Notch signaling pathwayGO:0072199.9LFNG, HES7, MESP1, MESP2, POFUT1, DLL3

Molecular functions related to Dysostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:04698310.1MESP2, MESP1, HES7
2arylsulfatase activityGO:0040659.9ARSA, ARSD

Products for genes affiliated with Dysostosis

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Sources for Dysostosis

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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