Czech Dysplasia (CZECHD)

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

Aliases & Classifications for Czech Dysplasia

MalaCards integrated aliases for Czech Dysplasia:

Name: Czech Dysplasia 56 25 73 36 13
Czech Dysplasia, Metatarsal Type 56 25 58 29 6 71
Spondyloepiphyseal Dysplasia with Precocious Osteoarthritis 56 73
Czech Dysplasia Metatarsal Type 52 73
Pseudorheumatoid Dysplasia, Progressive, with Hypoplastic Toes 56
Pseudorheumatoid Dysplasia Progressive, with Hypoplastic Toes 52
Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes 25
Pseudorheumatoid Dysplasia Progressive with Hypoplastic Toes 73
Spondyloepiphyseal Dysplasia with Metatarsal Shortening 25
Spondyloarthropathy with Short Third and Fourth Toes 25
Sed with Metatarsal Shortening 25
Dysplasia, Czech 39
Czechd 73


Orphanet epidemiological data:

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


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

autosomal dominant


czech dysplasia:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM 56 609162
KEGG 36 H02071
MeSH 43 D010009
MESH via Orphanet 44 C535766
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C1836683
Orphanet 58 ORPHA137678
MedGen 41 C1836683
UMLS 71 C1836683

Summaries for Czech Dysplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137678 Definition A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis , platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate , and height anomalies. Epidemiology To date, fewer than 15 families have been reported worldwide. Clinical description The first clinical signs appearing in childhood are broad knees and flat nasal bridge, followed in late childhood and adolescence by short 3rd and 4th metatarsals (not always present), joint pain in knees and hips and later osteoarthritis of the spine, shoulder, hips, and knees. Shortening of the metacarpals may also be present. Vertebral abnormalities include mild platyspondyly, irregular end plates, and reduced intervertebral distances. Stature is within average range. Brachydactyly is restricted to metatarsals III, IV and, more variably, V. Progressive hearing loss may be associated and typically starts in early adulthood, although subclinical hearing impairment for high frequencies may be detected in children. Etiology The disorder is due to the R275C mutation in the gene COL2A1 (12q13.11). Diagnostic methods Disorder is suspected based on family history and clinical presentation, but this may be difficult to detect in early childhood. Skeletal radiographs showing platyspondyly and shortened metatarsals and metacarpals may be helpful in the diagnosis work up. Diagnosis is confirmed by genetic testing for the R275C mutation in COL2A1 . Differential diagnosis Disorders with early-onset osteoarthritis and polyarticular arthritis form the main differential diagnoses and include juvenile idiopathic osteoarthritis and mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis. Whilst COL2A1 mutations are involved in a spectrum of skeletal dysplasias, this specific disorder is typically distinguished by the absence of cleft palate, ophthalmologic pathology and short stature . Antenatal diagnosis Genetic prenatal diagnosis is possible when the mutation has been previously identified in a family member. Genetic counseling The pattern of inheritance is autosomal dominant . The risk of transmission to offspring is 50% and there is full disease penetrance. Management and treatment Treatment is symptomatic and frequently includes hip replacement (often by the age of 40), hearing aids for hearing loss, and anti-rheumatic medication for osteoarthritis. Appropriate surveillance of hearing loss and progression of osteoarthritis is required. Prognosis The disorder is associated with early-onset, progressive arthritis that is typically associated with significant joint pain and restricted mobility that can adversely impact quality of life. Early joint replacements are often recommended. Longevity does not appear to be different to that of the general population. 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 spondylarthropathy, 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 testes, and related phenotypes are scoliosis and flexion contracture

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 : 56 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)

KEGG : 36 Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Czech dysplasia is caused by a specific missense mutation (R275C) in the COL2A1 gene.

UniProtKB/Swiss-Prot : 73 Czech dysplasia: A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes.

Related Diseases for Czech Dysplasia

Graphical network of the top 20 diseases related to Czech Dysplasia:

Diseases related to Czech Dysplasia

Symptoms & Phenotypes for Czech Dysplasia

Human phenotypes related to Czech Dysplasia:

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

Symptoms via clinical synopsis from OMIM:

Skeletal Spine:
irregular vertebral endplates
mild platyspondyly
narrow intervertebral disc spaces
rectangular lumbar spinal canal
Skeletal Pelvis:
coxa vara
narrow iliac wings
flattened capital femoral epiphyses
irregular, sclerotic acetabulae
narrow, short femoral neck
Skeletal Hands:
short metacarpals (4th-5th)

Skeletal Limbs:
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:


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:

Bone, Testes

Publications for Czech Dysplasia

Articles related to Czech Dysplasia:

(show all 13)
# Title Authors PMID Year
Czech dysplasia occurring in a Japanese family. 61 6 56
19764028 2009
Czech dysplasia metatarsal type: another type II collagen disorder. 6 56 61
17726487 2007
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. 56 6
8024616 1994
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). 6 56
8244341 1993
Czech dysplasia: report of a large family and further delineation of the phenotype. 56 61
18553548 2008
Czech dysplasia metatarsal type. 56 61
15266623 2004
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1). 56
15593085 2004
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. 56
14730409 2004
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. 56
7738948 1995
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia. 61
32071555 2020
Czech Dysplasia Masquerading as Juvenile Idiopathic Arthritis. 61
30363003 2018
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 61
26443184 2016
Early childhood presentation of Czech dysplasia. 61
23448908 2013

Variations for Czech Dysplasia

ClinVar genetic disease variations for Czech Dysplasia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
2 COL2A1 NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)SNV Pathogenic 17368 rs121912876 12:48387824-48387824 12:47994041-47994041
3 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
4 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
5 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)SNV Conflicting interpretations of pathogenicity 308931 rs142770543 12:48388220-48388220 12:47994437-47994437
6 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)SNV Uncertain significance 547841 rs886042009 12:48374344-48374344 12:47980561-47980561

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

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

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:

# 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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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