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 57 25 75 37 13
Czech Dysplasia, Metatarsal Type 57 25 59 73
Czech Dysplasia Metatarsal Type 53 75 29 6
Spondyloepiphyseal Dysplasia with Precocious Osteoarthritis 57 75
Pseudorheumatoid Dysplasia, Progressive, with Hypoplastic Toes 57
Pseudorheumatoid Dysplasia Progressive, with Hypoplastic Toes 53
Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes 25
Pseudorheumatoid Dysplasia Progressive with Hypoplastic Toes 75
Spondyloarthropathy with Short Third and Fourth Toes 25
Dysplasia, Czech 40
Czechd 75

Characteristics:

Orphanet epidemiological data:

59
czech dysplasia, metatarsal type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Miscellaneous:
waddling gait
onset of joint pain in childhood
hip replacement in early adulthood

Inheritance:
autosomal dominant


HPO:

32
czech dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609162
Orphanet 59 ORPHA137678
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 74 C1836683
MESH via Orphanet 45 C535766
MedGen 42 C1836683
MeSH 44 D010009
KEGG 37 H02071
UMLS 73 C1836683

Summaries for Czech Dysplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Czech Dysplasia, also known as czech dysplasia, metatarsal type, is related to arthropathy, progressive pseudorheumatoid, of childhood, and has symptoms including arthralgia and waddling gait. An important gene associated with Czech Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include bone, and related phenotypes are scoliosis and flexion contracture

OMIM : 57 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 : 75 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.

Related Diseases for Czech Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 arthropathy, progressive pseudorheumatoid, of childhood 10.2

Symptoms & Phenotypes for Czech Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
irregular vertebral endplates
mild platyspondyly
narrow intervertebral disc spaces
rectangular lumbar spinal canal
more
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 Limbs:
arthralgia
flexion contractures (knee)
osteochondromatosis (knee)

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:

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

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 29 COL2A1

Anatomical Context for Czech Dysplasia

MalaCards organs/tissues related to Czech Dysplasia:

41
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:

75
# 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
2 COL2A1 NM_001844.4(COL2A1): c.823C> T (p.Arg275Cys) single nucleotide variant Pathogenic rs121912876 GRCh38 Chromosome 12, 47994041: 47994041

Expression for Czech Dysplasia

Search GEO for disease gene expression data for Czech Dysplasia.

Pathways for Czech Dysplasia

Pathways related to Czech Dysplasia according to KEGG:

37
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

GO Terms for Czech Dysplasia

Sources for Czech Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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