MCID: CZC002
MIFTS: 26

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 53 24 71 13
Czech Dysplasia, Metatarsal Type 53 24 55 69
Czech Dysplasia Metatarsal Type 49 71 28
Spondyloepiphyseal Dysplasia with Precocious Osteoarthritis 53 71
Pseudorheumatoid Dysplasia, Progressive, with Hypoplastic Toes 53
Pseudorheumatoid Dysplasia Progressive, with Hypoplastic Toes 49
Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes 24
Pseudorheumatoid Dysplasia Progressive with Hypoplastic Toes 71
Spondyloarthropathy with Short Third and Fourth Toes 24
Czechd 71

Characteristics:

Orphanet epidemiological data:

55
czech dysplasia, metatarsal type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Miscellaneous:
waddling gait
onset of joint pain in childhood
hip replacement in early adulthood

Inheritance:
autosomal dominant


HPO:

31
czech dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 609162
Orphanet 55 ORPHA137678
MESH via Orphanet 42 C535766
UMLS via Orphanet 70 C1836683
ICD10 via Orphanet 33 Q77.7
MedGen 39 C1836683
MeSH 41 D010009
UMLS 69 C1836683

Summaries for Czech Dysplasia

NIH Rare Diseases : 49 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 arthralgia, waddling gait and scoliosis. An important gene associated with Czech Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone.

Genetics Home Reference : 24 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 : 53 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)

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

Related Diseases for Czech Dysplasia

Symptoms & Phenotypes for Czech Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
arthralgia
flexion contractures (knee)
osteochondromatosis (knee)

Skeletal Pelvis:
coxa vara
narrow iliac wings
flattened capital femoral epiphyses
irregular, sclerotic acetabulae
narrow, short femoral neck
more
Skeletal Hands:
short metacarpals (4th-5th)

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

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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 HP:0002829
2 waddling gait 31 HP:0002515
3 scoliosis 31 HP:0002650
4 flexion contracture 31 HP:0001371
5 platyspondyly 31 HP:0000926
6 short toe 31 HP:0001831
7 thoracic kyphosis 31 HP:0002942
8 coxa vara 31 HP:0002812
9 narrow iliac wings 31 HP:0002868
10 short metacarpal 31 HP:0010049
11 short metatarsal 31 HP:0010743
12 irregular vertebral endplates 31 HP:0003301
13 flat capital femoral epiphysis 31 HP:0003370
14 short femoral neck 31 HP:0100864
15 growth abnormality 31 HP:0001507
16 intervertebral space narrowing 31 HP:0002945
17 narrow femoral neck 31 HP:0008819

UMLS symptoms related to Czech Dysplasia:


waddling gait, arthralgia

Drugs & Therapeutics for Czech Dysplasia

Search Clinical Trials , NIH Clinical Center for Czech Dysplasia

Genetic Tests for Czech Dysplasia

Genetic tests related to Czech Dysplasia:

# Genetic test Affiliating Genes
1 Czech Dysplasia Metatarsal Type 28 COL2A1

Anatomical Context for Czech Dysplasia

MalaCards organs/tissues related to Czech Dysplasia:

38
Bone

Publications for Czech Dysplasia

Articles related to Czech Dysplasia:

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

ClinVar genetic disease variations for Czech Dysplasia:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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