Aliases & Classifications for Dysostosis

Aliases & Descriptions for Dysostosis:

Name: Dysostosis 12 52 14
Dysostoses 42 69

Classifications:



External Ids:

Disease Ontology 12 DOID:1934
MeSH 42 D004413
NCIt 47 C34560
SNOMED-CT 64 109420003
UMLS 69 C0013393

Summaries for Dysostosis

Disease Ontology : 12 A bone development disease that results_in defective ossification of located in bone.

MalaCards based summary : Dysostosis, also known as dysostoses, is related to spondylospinal thoracic dysostosis and acrofacial dysostosis, palagonia type. An important gene associated with Dysostosis is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Neural Crest Differentiation and Gene regulatory network modelling somitogenesis. The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 71 A dysostosis is a disorder of the development of bone, in particular affecting... more...

Related Diseases for Dysostosis

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

(show top 50) (show all 202)
id Related Disease Score Top Affiliating Genes
1 spondylospinal thoracic dysostosis 33.0 DLL3 HES7 LFNG MESP2 TBX6
2 acrofacial dysostosis, palagonia type 32.9 FGFR2 SF3B4
3 weyers acrofacial dysostosis 12.3
4 acrofacial dysostosis 1, nager type 12.3
5 mandibulofacial dysostosis with alopecia 12.2
6 spondylocostal dysostosis 3, autosomal recessive 12.1
7 acrofacial dysostosis, cincinnati type 12.1
8 acrofrontofacionasal dysostosis 12.1
9 mandibulofacial dysostosis, guion-almeida type 12.1
10 acromelic frontonasal dysostosis 12.1
11 spondylocostal dysostosis 5 12.1
12 spondylocostal dysostosis 1, autosomal recessive 12.0
13 spondylocostal dysostosis 6 12.0
14 split-foot deformity with mandibulofacial dysostosis 11.9
15 spondylocostal dysostosis 2, autosomal recessive 11.9
16 spondylocostal dysostosis 4, autosomal recessive 11.9
17 hypomandibular faciocranial dysostosis 11.9
18 acrofacial dysostosis syndrome of rodriguez 11.9
19 acrofrontofacionasal dysostosis 1 11.9
20 diamond blackfan anemia 15 with mandibulofacial dysostosis 11.9
21 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.9
22 miller syndrome 11.9
23 acrofacial dysostosis 11.9
24 acrofacial dysostosis, catania type 11.8
25 spondylocostal dysostosis, autosomal recessive 11.8
26 oculomaxillofacial dysostosis 11.8
27 peripheral dysostosis 11.8
28 maxillofacial dysostosis 11.7
29 acrocraniofacial dysostosis 11.7
30 mandibulofacial dysostosis with macroblepharon and macrostomia 11.7
31 acrofacial dysostosis, kennedy-teebi type 11.7
32 metaphyseal dysostosis, mental retardation, and conductive deafness 11.7
33 craniofacial dysostosis with diaphyseal hyperplasia 11.7
34 acral dysostosis dyserythropoiesis syndrome 11.7
35 mesp2-related spondylocostal dysostosis, autosomal recessive 11.7
36 spondylocostal dysostosis 2 11.7
37 acrofrontofacionasal dysostosis 2 11.7
38 crouzon syndrome 11.7
39 cleidocranial dysplasia 11.7
40 hes7-related spondylocostal dysostosis, autosomal recessive 11.6
41 lfng-related spondylocostal dysostosis, autosomal recessive 11.6
42 spondylocostal dysostosis with anal atresia and urogenital anomalies 11.6
43 spondylocostal dysostosis 3 11.6
44 spondylocostal dysostosis 4 11.6
45 acrodysostosis 11.6
46 spondylocostal dysostosis 1 11.6
47 ripply2-related spondylocostal dysostosis, autosomal recessive 11.6
48 trs2-related diamond-blackfan anemia with mandibulofacial dysostosis 11.6
49 thoracopelvic dysostosis 11.6
50 acrofacial dysostosis, patagonia type 11.6

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to Dysostosis

Symptoms & Phenotypes for Dysostosis

MGI Mouse Phenotypes related to Dysostosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 DLL3 EDNRA EVC EVC2 FGFR2 HES7
2 mortality/aging MP:0010768 10.1 ALX4 DHODH DLL3 EDNRA EFTUD2 EVC
3 embryo MP:0005380 10.06 FGFR2 HES7 LFNG MESP2 TBX6 TCOF1
4 craniofacial MP:0005382 10.03 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
5 limbs/digits/tail MP:0005371 10.02 MESP2 RUNX2 TBX6 ALX4 DLL3 EVC
6 nervous system MP:0003631 9.85 FGFR2 LFNG MESP2 RUNX2 TBX6 TCOF1
7 skeleton MP:0005390 9.8 ALX4 CHST3 DHODH DLL3 EDNRA EVC
8 vision/eye MP:0005391 9.17 ALX4 DLL3 EDNRA FGFR2 LFNG RUNX2

Drugs & Therapeutics for Dysostosis

Drugs for Dysostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
4 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
5
Simvastatin Approved Phase 2 79902-63-9 54454
6
Benzocaine Approved Phase 1, Phase 2 1994-09-7, 94-09-7 2337
7
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
8
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
9 tannic acid Approved, Nutraceutical Phase 1, Phase 2
10 Anticholesteremic Agents Phase 2
11 Antimetabolites Phase 2
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
13 Hypolipidemic Agents Phase 2
14 Lipid Regulating Agents Phase 2
15 Neurotransmitter Agents Phase 2
16 Anticonvulsants Phase 2
17 Antimanic Agents Phase 2
18 Central Nervous System Depressants Phase 2
19 GABA Agents Phase 2
20 Histone Deacetylase Inhibitors Phase 2
21 Psychotropic Drugs Phase 2
22 Tranquilizing Agents Phase 2
23 Phytosterol Nutraceutical Phase 1, Phase 2
24
Adenosine Approved, Investigational 58-61-7 60961
25
Menthol Approved 2216-51-5 16666
26 Calcium, Dietary
27 Analgesics
28 Anti-Arrhythmia Agents
29 Peripheral Nervous System Agents
30 Vasodilator Agents
31
Bilirubin 635-65-4 5280352
32 Anesthetics
33 Antioxidants
34 Protective Agents
35 Liver Extracts
36 Calamus Nutraceutical

Interventional clinical trials:

(show top 50) (show all 56)
id Name Status NCT ID Phase
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4
3 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
4 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3
5 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
6 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
7 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2
8 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
9 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
10 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2
11 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2
12 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
13 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2
14 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1
15 Bone Reconstruction of the Skull Using a Metal Ceramic Implant After Previously Failed Reconstruction Unknown status NCT01899807
16 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
17 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745
18 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
19 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
20 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
21 Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care Completed NCT02287805
22 The Natural History of Alpha-Mannosidosis Completed NCT00498420
23 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
24 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321
25 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
26 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
27 Child and Infant Learning Project Completed NCT00077831
28 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
29 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
30 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
31 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
32 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
33 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
34 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278
35 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
36 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
37 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
38 Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital Compression Recruiting NCT02548260
39 MRI for Non-invasive Evaluation of Brain Stress Recruiting NCT01898650
40 Osteogenic Profiling of Tissue From Children With Craniosynostosis Recruiting NCT00773643
41 Study of Selected X-linked Disorders: Goltz Syndrome Recruiting NCT00691223
42 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
43 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
44 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
45 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
46 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656
47 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Active, not recruiting NCT01416090
48 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
49 Role of Mesenchymal Stem Cells in Fat Grafting Not yet recruiting NCT02494752
50 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Not yet recruiting NCT03107546

Search NIH Clinical Center for Dysostosis

Cochrane evidence based reviews: dysostoses

Genetic Tests for Dysostosis

Anatomical Context for Dysostosis

MalaCards organs/tissues related to Dysostosis:

39
Bone, Eye, Heart, Testes, Skin, Kidney, Thyroid

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

18
Bone

Publications for Dysostosis

Articles related to Dysostosis:

(show top 50) (show all 561)
id Title Authors Year
1
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. ( 27670155 )
2017
2
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
3
Cleidocranial dysostosis : A rare case report. ( 27728738 )
2016
4
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. ( 27642715 )
2016
5
Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. ( 27671791 )
2016
6
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 )
2016
7
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. ( 27590395 )
2016
8
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. ( 27378064 )
2016
9
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. ( 27861764 )
2016
10
EP10.02: Nager acrofacial dysostosis: early first trimester ultrasound or exome sequencing? ( 27645160 )
2016
11
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27935951 )
2016
12
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
13
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. ( 26507355 )
2015
14
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. ( 25735261 )
2015
15
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
16
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. ( 26706854 )
2015
17
Dental Management of a Patient with Nager Acrofacial Dysostosis. ( 26527228 )
2015
18
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26090680 )
2015
19
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence. ( 25427842 )
2015
20
Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia. ( 25772936 )
2015
21
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. ( 26701993 )
2015
22
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135 )
2015
23
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. ( 25913037 )
2015
24
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. ( 26962344 )
2015
25
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26222705 )
2015
26
Cleidocranial dysostosis. ( 26311012 )
2015
27
Scheuermann's disease (dysostosis) of the spine. ( 25611402 )
2015
28
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. ( 25395774 )
2014
29
Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome). ( 25304117 )
2014
30
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. ( 25387991 )
2014
31
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929 )
2014
32
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. ( 24666313 )
2014
33
Orodental findings in postaxial acrofacial dysostosis. ( 24959059 )
2014
34
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. ( 25105228 )
2014
35
Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature. ( 25250070 )
2014
36
Limbal dermoid in Nager syndrome acrofacial dysostosis: A rare case report. ( 23619484 )
2013
37
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. ( 24288143 )
2013
38
Cleidocranial dysostosis. ( 23823271 )
2013
39
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. ( 23335591 )
2013
40
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. ( 23653874 )
2013
41
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. ( 23238123 )
2013
42
Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. ( 24266672 )
2013
43
Limbal dermoid in Nager acrofacial dysostosis: A rare case report. ( 23619496 )
2013
44
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. ( 23599829 )
2013
45
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. ( 23913624 )
2013
46
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. ( 23239648 )
2013
47
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. ( 23546915 )
2013
48
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. ( 23897666 )
2013
49
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis. ( 22616035 )
2012
50
Resonance and speech articulation after midface advancement in craniofacial dysostosis. ( 22446435 )
2012

Variations for Dysostosis

Expression for Dysostosis

Search GEO for disease gene expression data for Dysostosis.

Pathways for Dysostosis

Pathways related to Dysostosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.14 DLL3 FGFR2 TBX6
2 9.97 HES7 LFNG MESP2 TBX6

GO Terms for Dysostosis

Biological processes related to Dysostosis according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.99 ALX4 DLL3 HES7 LFNG MESP2 TBX6
2 Notch signaling pathway GO:0007219 9.63 DLL3 HES7 MESP2
3 embryonic pattern specification GO:0009880 9.49 FGFR2 MESP2
4 neural crest cell development GO:0014032 9.48 EDNRA TCOF1
5 regulation of osteoblast differentiation GO:0045667 9.43 FGFR2 RUNX2
6 skeletal system morphogenesis GO:0048705 9.43 ALX4 FGFR2 RUNX2
7 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.4 FGFR2 RUNX2
8 endochondral bone growth GO:0003416 9.37 EVC FGFR2
9 regulation of somitogenesis GO:0014807 9.32 HES7 LFNG
10 somitogenesis GO:0001756 9.26 DLL3 HES7 LFNG MESP2
11 compartment pattern specification GO:0007386 9.16 DLL3 LFNG
12 skeletal system development GO:0001501 9.1 ALX4 DLL3 EVC HES7 RUNX2 TCOF1

Sources for Dysostosis

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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