CZECHD
MCID: CZC002
MIFTS: 31

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 57 25 74 37 13
Czech Dysplasia, Metatarsal Type 57 25 59 72
Czech Dysplasia Metatarsal Type 53 74 29 6
Spondyloepiphyseal Dysplasia with Precocious Osteoarthritis 57 74
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 74
Spondyloepiphyseal Dysplasia with Metatarsal Shortening 25
Spondyloarthropathy with Short Third and Fourth Toes 25
Sed with Metatarsal Shortening 25
Dysplasia, Czech 40
Czechd 74

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
KEGG 37 H02071
MeSH 44 D010009
MESH via Orphanet 45 C535766
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 73 C1836683
Orphanet 59 ORPHA137678
MedGen 42 C1836683
UMLS 72 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: 137678DefinitionCzech 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 spondyloperipheral dysplasia and 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

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 : 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)

KEGG : 37
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 : 74 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:

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 waddling gait 32 HP:0002515
7 thoracic kyphosis 32 HP:0002942
8 coxa vara 32 HP:0002812
9 narrow iliac wings 32 HP:0002868
10 short metacarpal 32 HP:0010049
11 short metatarsal 32 HP:0010743
12 irregular vertebral endplates 32 HP:0003301
13 flat capital femoral epiphysis 32 HP:0003370
14 short femoral neck 32 HP:0100864
15 intervertebral space narrowing 32 HP:0002945
16 growth abnormality 32 HP:0001507
17 narrow femoral neck 32 HP:0008819

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

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:

(show all 12)
# Title Authors PMID Year
1
Czech dysplasia occurring in a Japanese family. 38 8 71
19764028 2009
2
Czech dysplasia metatarsal type: another type II collagen disorder. 38 8 71
17726487 2007
3
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. 8 71
8024616 1994
4
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). 8 71
8244341 1993
5
Czech dysplasia: report of a large family and further delineation of the phenotype. 38 8
18553548 2008
6
Czech dysplasia metatarsal type. 38 8
15266623 2004
7
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1). 8
15593085 2004
8
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. 8
14730409 2004
9
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. 8
7738948 1995
10
Czech Dysplasia Masquerading as Juvenile Idiopathic Arthritis. 38
30363003 2018
11
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 38
26443184 2016
12
Early childhood presentation of Czech dysplasia. 38
23448908 2013

Variations for Czech Dysplasia

ClinVar genetic disease variations for Czech Dysplasia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 12:48372112-48372112 12:47978329-47978329
2 COL2A1 NM_001844.5(COL2A1): c.823C> T (p.Arg275Cys) single nucleotide variant Pathogenic rs121912876 12:48387824-48387824 12:47994041-47994041
3 COL2A1 NM_001844.5(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 12:48377504-48377504 12:47983721-47983721
4 COL2A1 NM_001844.5(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 12:48393736-48393736 12:47999953-47999953
5 COL2A1 NM_001844.5(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 12:48388220-48388220 12:47994437-47994437
6 COL2A1 NM_001844.5(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 12:48374344-48374344 12:47980561-47980561

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

74
# 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:

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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