MCID: CZC002
MIFTS: 34

Czech Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Czech Dysplasia

MalaCards integrated aliases for Czech Dysplasia:

Name: Czech Dysplasia 54 24 25 71 13
Czech Dysplasia, Metatarsal Type 25 56 69
Czech Dysplasia Metatarsal Type 50 71 29
Spondyloepiphyseal Dysplasia with Precocious Osteoarthritis 24 71
Pseudorheumatoid Dysplasia, Progressive, with Hypoplastic Toes 24
Pseudorheumatoid Dysplasia Progressive, with Hypoplastic Toes 50
Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes 25
Pseudorheumatoid Dysplasia Progressive with Hypoplastic Toes 71
Spondyloarthropathy with Short Third and Fourth Toes 25
Czech Dysplasia, Metarsal Type 24
Czechd 71

Characteristics:

Orphanet epidemiological data:

56
czech dysplasia, metatarsal type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait
onset of joint pain in childhood
hip replacement in early adulthood


HPO:

32
czech dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 609162
Orphanet 56 ORPHA137678
MESH via Orphanet 43 C535766
UMLS via Orphanet 70 C1836683
ICD10 via Orphanet 34 Q77.7
MedGen 40 C1836683
MeSH 42 D010009

Summaries for Czech Dysplasia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 137678disease definitionczech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.epidemiologyso far, less than 20 patients have been reported, including multiple members of five families from the czech republic.clinical descriptionstature and intelligence are normal. radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces.etiologymutations in the col2a1 gene have been detected in several of the reported patients.genetic counselingtransmission is autosomal dominant.visit the orphanet disease page for more resources. last updated: 5/22/2008

MalaCards based summary : Czech Dysplasia, is also known as czech dysplasia, metatarsal type, and has symptoms including scoliosis, platyspondyly and waddling gait. An important gene associated with Czech Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). The drugs Azacitidine and Decitabine have been mentioned in the context of this disorder. Affiliated tissues include bone and cervix.

UniProtKB/Swiss-Prot : 71 Czech dysplasia: A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes.

Genetics Home Reference : 25 Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may have flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, such as a rounded upper back that also curves to the side (kyphoscoliosis). Some people with Czech dysplasia have progressive hearing loss.

OMIM : 54
Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004). (609162)

Related Diseases for Czech Dysplasia

Symptoms & Phenotypes for Czech Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
mild platyspondyly
irregular vertebral endplates
narrow intervertebral disc spaces
rectangular lumbar spinal canal
more
Growth- Height:
normal stature

Skeletal- Hands:
short metacarpals (4th-5th)

Skeletal- Pelvis:
coxa vara
narrow iliac wings
flattened capital femoral epiphyses
irregular, sclerotic acetabulae
narrow, short femoral neck
more
Skeletal- Limbs:
arthralgia
flexion contractures (knee)
osteochondromatosis (knee)

Skeletal- Feet:
hypoplastic or dysplastic toes (3rd, 4th, and 5th)
hypoplastic metatarsals (3rd and 4th)


Clinical features from OMIM:

609162

Human phenotypes related to Czech Dysplasia:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 platyspondyly 32 HP:0000926
3 waddling gait 32 HP:0002515
4 coxa vara 32 HP:0002812
5 irregular vertebral endplates 32 HP:0003301
6 narrow iliac wings 32 HP:0002868
7 short femoral neck 32 HP:0100864
8 thoracic kyphosis 32 HP:0002942
9 arthralgia 32 HP:0002829
10 short metacarpal 32 HP:0010049
11 short metatarsal 32 HP:0010743
12 flexion contracture 32 HP:0001371
13 short toe 32 HP:0001831
14 flat capital femoral epiphysis 32 HP:0003370
15 growth abnormality 32 HP:0001507
16 intervertebral space narrowing 32 HP:0002945
17 narrow femoral neck 32 HP:0008819

UMLS symptoms related to Czech Dysplasia:


arthralgia, waddling gait

Drugs & Therapeutics for Czech Dysplasia

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

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
2
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
3
Budesonide Approved Phase 3 51333-22-3 63006 5281004
4
Ramipril Approved Phase 3 87333-19-5 5362129
5
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
6
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
7 Antimetabolites Phase 3
8 Antimetabolites, Antineoplastic Phase 3
9 Anti-Asthmatic Agents Phase 3
10 Anti-Inflammatory Agents Phase 3
11 Autonomic Agents Phase 3
12 Bronchodilator Agents Phase 3
13 glucocorticoids Phase 3
14 Hormone Antagonists Phase 3
15 Hormones Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
17 Peripheral Nervous System Agents Phase 3
18 Respiratory System Agents Phase 3
19 Angiotensin Receptor Antagonists Phase 3
20 Angiotensin-Converting Enzyme Inhibitors Phase 3
21 Antihypertensive Agents Phase 3
22 Progestins Phase 3
23
Pancrelipase Approved 53608-75-6
24 Lugol's solution
25 Pharmaceutical Solutions
26 pancreatin
27 Pepsin A

Interventional clinical trials:

(show all 14)

id Name Status NCT ID Phase Drugs
1 A Single Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-ceramic Bearing in Primary Total Hip Replacement Terminated NCT00872222 Phase 4
2 Multi-Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Resurfacing and Primary Total Hip Replacement Terminated NCT00872547 Phase 4
3 Low-Dose Decitabine Compared With Standard Supportive Care in Treating Older Patients With Myelodysplastic Syndrome Unknown status NCT00043134 Phase 3 decitabine
4 Efficacy and Safety of Inhaled Budesonide in Very Preterm Infants at Risk for Bronchopulmonary Dysplasia Completed NCT01035190 Phase 3 Budesonide
5 Effect of Strict Blood Pressure Control and ACE-Inhibition on Progression of Chronic Renal Failure in Pediatric Patients Completed NCT00221845 Phase 3 ACE Inhibition;Intensified Blood Pressure Control;Add-on Angiotensin Receptor Blockade
6 PREGNANT Short Cervix Trial Completed NCT00615550 Phase 3 progesterone;placebo
7 Gadobutrol Enhanced MRA of the Renal Arteries Completed NCT01344460 Phase 3 Gadobutrol (Gadovist, BAY86-4875)
8 Studying Blood Samples in Young Patients With Cytopenia After a Donor Stem Cell Transplant Unknown status NCT00898118
9 Chromoendoscopy to Detect Early Synchronous Second Primary Esophageal Carcinoma Completed NCT01783158
10 Value of Narrow Band Imaging (NBI) Endoscopy in the Early Diagnosis of Laryngeal Cancer and Precancerous Lesions Completed NCT02217358
11 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
12 pCLE in the Detection of Esophageal and Gastric Lesions and Intestinal Metaplasia or Dysplasia in Patients After Endoscopic Treatment of BORN Recruiting NCT02922049
13 Recurrent Respiratory Papillomatosis and Extraesophageal Reflux Recruiting NCT02592902
14 Does Routine Assessment of Gastric Residuals in Preterm Neonates Influence Time Taken to Reach Full Enteral Feeding? Recruiting NCT03111329

Search NIH Clinical Center for Czech Dysplasia

Genetic Tests for Czech Dysplasia

Genetic tests related to Czech Dysplasia:

id Genetic test Affiliating Genes
1 Czech Dysplasia Metatarsal Type 29
2 Czech Dysplasia 24 COL2A1

Anatomical Context for Czech Dysplasia

MalaCards organs/tissues related to Czech Dysplasia:

39
Bone, Cervix

Publications for Czech Dysplasia

Articles related to Czech Dysplasia:

id Title Authors Year
1
Early childhood presentation of Czech dysplasia. ( 23448908 )
2013
2
Czech dysplasia occurring in a Japanese family. ( 19764028 )
2009
3
Czech dysplasia: report of a large family and further delineation of the phenotype. ( 18553548 )
2008
4
Czech dysplasia metatarsal type: another type II collagen disorder. ( 17726487 )
2007
5
Czech dysplasia metatarsal type. ( 15266623 )
2004

Variations for Czech Dysplasia

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

71
id Symbol AA change Variation ID SNP ID
1 COL2A1 p.Arg275Cys VAR_001739 rs121912876

ClinVar genetic disease variations for Czech Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.823C> T (p.Arg275Cys) single nucleotide variant Pathogenic rs121912876 GRCh37 Chromosome 12, 48387824: 48387824

Expression for Czech Dysplasia

Search GEO for disease gene expression data for Czech Dysplasia.

Pathways for Czech Dysplasia

GO Terms for Czech Dysplasia

Sources for Czech 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....