MCDS
MCID: MTP025
MIFTS: 50

Metaphyseal Chondrodysplasia, Schmid Type (MCDS)

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

Aliases & Classifications for Metaphyseal Chondrodysplasia, Schmid Type

MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Schmid Type:

Name: Metaphyseal Chondrodysplasia, Schmid Type 56 58 29 13 54 6
Metaphyseal Chondrodysplasia Schmid Type 74 52 71
Schmid Metaphyseal Chondrodysplasia 12 24 15
Mcds 56 24 52
Spondylometaphyseal Dysplasia, Japanese Type 56
Japanese Type Spondylometaphyseal Dysplasia 12
Chondrodysplasia, Metaphyseal, Schmid Type 39
Corneal Dystrophy, Subepithelial Mucinous 71
Metaphyseal Chondrodysplasia Type Schmid 24
Schmid Type Metaphyseal Chondrodysplasia 73
Schmid Type Metaphyseal Dysplasia 12
Smcd 73

Characteristics:

Orphanet epidemiological data:

58
metaphyseal chondrodysplasia, schmid type
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait, often presenting sign in second year
leg pain during childhood
hand involvement improves with age
spinal involvement improves with age


HPO:

31
metaphyseal chondrodysplasia, schmid type:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance approaches 100%; however, there is wide inter- and intrafamilial phenotypic variation. males and females are equally represented in the case literature. normal stature has been reported, but radiographic features are usually still present. age-dependent phenotypic manifestations are suggested by apparent reduction in hand and spine features with age [savarirayan et al 2000, elliott et al 2005].

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080021
OMIM 56 156500
MESH via Orphanet 44 C537352
ICD10 via Orphanet 33 Q78.5
UMLS via Orphanet 72 C0265289
Orphanet 58 ORPHA174
MedGen 41 C0265289
UMLS 71 C0265289 C2748503

Summaries for Metaphyseal Chondrodysplasia, Schmid Type

NIH Rare Diseases : 52 Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis , leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets . MCDS is caused by a mutation in one of the collagen genes known as COL10A1 . The mutation may be inherited from a parent or may happen for the first time in an affected individual. The MCDS mutation is passed on in an autosomal dominant manner. Treatment may include physical therapy and/or orthopedic surgery and often requires a team of specialists. Early intervention is important to help children with MCDS reach their potential.

MalaCards based summary : Metaphyseal Chondrodysplasia, Schmid Type, also known as metaphyseal chondrodysplasia schmid type, is related to corneal dystrophy, subepithelial mucinous and corneal dystrophy, meesmann, 1. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Viral mRNA Translation and RNA Polymerase II Transcription Termination. Affiliated tissues include bone, liver and brain, and related phenotypes are abnormality of the metaphysis and genu varum

Disease Ontology : 12 A metaphyseal dysplasia that results in dwarfism and bowed legs.

OMIM : 56 Schmid-type metaphyseal chondrodysplasia is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by Makitie et al., 2005). (156500)

UniProtKB/Swiss-Prot : 73 Schmid type metaphyseal chondrodysplasia: Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end- plate irregularity.

Wikipedia : 74 Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of... more...

GeneReviews: NBK547823

Related Diseases for Metaphyseal Chondrodysplasia, Schmid Type

Diseases related to Metaphyseal Chondrodysplasia, Schmid Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 32.1 SCRT2 CRYAA COL10A1
2 corneal dystrophy, meesmann, 1 31.8 CRYAA COL8A2
3 cartilage disease 30.5 COMP COL10A1
4 pyle disease 30.0 COMP COL10A1
5 multicentric castleman disease 12.2
6 malonyl-coa decarboxylase deficiency 12.2
7 macular dystrophy, corneal 12.2
8 multiple carboxylase deficiency 12.1
9 holocarboxylase synthetase deficiency 11.9
10 biotinidase deficiency 11.8
11 lipoid nephrosis 11.6
12 focal segmental glomerulosclerosis 11.6
13 spondylometaphyseal dysplasia, algerian type 11.6
14 metaphyseal dysplasia, spahr type 11.6
15 kaposi sarcoma 11.5
16 systemic mastocytosis 11.4
17 c1q nephropathy 11.3
18 cortical malformations, occipital 11.2
19 microlissencephaly 11.1
20 skeletal dysplasias 10.6
21 non-alcoholic steatohepatitis 10.5
22 spondyloepimetaphyseal dysplasia, strudwick type 10.5
23 cartilage-hair hypoplasia 10.5
24 fatty liver disease 10.4
25 non-alcoholic fatty liver disease 10.4
26 fatty liver disease, nonalcoholic 1 10.4
27 coxa vara 10.3
28 scoliosis 10.3
29 dwarfism 10.3
30 odontochondrodysplasia 10.3
31 lipoid congenital adrenal hyperplasia 10.3
32 metaphyseal dysplasia without hypotrichosis 10.3
33 castleman disease 10.3
34 liver disease 10.3
35 cortical dysplasia, complex, with other brain malformations 7 10.2
36 nephrotic syndrome 10.2
37 glomerulonephritis 10.2
38 intraocular retinoblastoma 10.2 ESCO2 CRYAA
39 leukocoria 10.2 ESCO2 CRYAA
40 retinitis pigmentosa 51 10.1 UPF3A UPF2
41 atrial standstill 1 10.1
42 lissencephaly 10.1
43 pertussis 10.1
44 mesangial proliferative glomerulonephritis 10.1
45 cytokine deficiency 10.1
46 kshv inflammatory cytokine syndrome 10.1
47 lymphoma aids related 10.1
48 hypotonia 10.1
49 retinal perforation 10.1 ESCO2 CRYAA
50 epithelial and subepithelial dystrophy 10.1 CRYAA COL8A2 COL10A1

Graphical network of the top 20 diseases related to Metaphyseal Chondrodysplasia, Schmid Type:



Diseases related to Metaphyseal Chondrodysplasia, Schmid Type

Symptoms & Phenotypes for Metaphyseal Chondrodysplasia, Schmid Type

Human phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
2 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
3 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
4 limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009826
5 moderately short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008848
6 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
7 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
8 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
11 diaphyseal thickening 58 31 frequent (33%) Frequent (79-30%) HP:0005019
12 abnormality of bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004348
13 hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0003072
14 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
15 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
16 irregular vertebral endplates 58 31 occasional (7.5%) Occasional (29-5%) HP:0003301
17 irregular acetabular roof 58 31 occasional (7.5%) Occasional (29-5%) HP:0008833
18 bowing of the long bones 58 Very frequent (99-80%)
19 metaphyseal chondrodysplasia 31 HP:0005871
20 waddling gait 31 HP:0002515
21 metaphyseal cupping of metacarpals 31 HP:0006028
22 short distal phalanx of finger 31 HP:0009882
23 femoral bowing 31 HP:0002980
24 mild short stature 31 HP:0003502
25 short middle phalanx of finger 31 HP:0005819
26 proximal femoral metaphyseal abnormality 31 HP:0006431
27 enlargement of the proximal femoral epiphysis 31 HP:0003371
28 metaphyseal cupping of proximal phalanges 31 HP:0006208
29 distal tibial bowing 31 HP:0006414
30 broad middle phalanx of finger 31 HP:0009844

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
metaphyseal cupping of metacarpals
metaphyseal cupping of proximal phalanges
hypoplastic distal phalanges
short/broad middle phalanges

Skeletal Pelvis:
coxa vara
irregular acetabular roof
enlarged capital femoral epiphyses

Skeletal Spine:
mild platyspondyly
endplate irregularity

Skeletal Limbs:
genu varum
femoral bowing
tibial bowing, especially at ankle
metaphyseal abnormalities of distal and proximal femurs
metaphyseal abnormalities of proximal tibiae and fibulae
more
Growth Height:
short stature, mild to moderate
adult height 130-160cm

Skeletal:
no osteoarthritic symptoms

Clinical features from OMIM:

156500

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Schmid Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes Study to Determine the Incidence of Symptomatic DVT/PE in Patients Receiving Aspirin With Mechanical Compression Devices Versus Aspirin Alone Following Knee and Hip Arthroplasty Withdrawn NCT03027167 Phase 4 Aspirin
2 Efficacy of Prolonged Distal Calf Compression as Part of a Multimodal DVT Protocol in Tourniquet-less Total Knee Arthroplasty: a Randomized Clinical Trial in 100 Patients Completed NCT02102828
3 OTIS - Optimized Complementary Feeding Study Completed NCT02634749

Search NIH Clinical Center for Metaphyseal Chondrodysplasia, Schmid Type

Genetic Tests for Metaphyseal Chondrodysplasia, Schmid Type

Genetic tests related to Metaphyseal Chondrodysplasia, Schmid Type:

# Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Schmid Type 29 COL10A1

Anatomical Context for Metaphyseal Chondrodysplasia, Schmid Type

MalaCards organs/tissues related to Metaphyseal Chondrodysplasia, Schmid Type:

40
Bone, Liver, Brain, Breast, Cortex, Testes, Bone Marrow

Publications for Metaphyseal Chondrodysplasia, Schmid Type

Articles related to Metaphyseal Chondrodysplasia, Schmid Type:

(show top 50) (show all 320)
# Title Authors PMID Year
1
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. 54 61 56 6
17403716 2007
2
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. 24 56 6
12554676 2003
3
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 24 56 6
9837818 1998
4
Japanese type of spondylo-metaphyseal dysplasia. 24 56 6
7936797 1994
5
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. 61 24 56
16088909 2005
6
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. 56 6
8220429 1993
7
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. 61 24 56
3281118 1988
8
Hand involvement in Schmid metaphyseal chondrodysplasia. 24 56
15578582 2005
9
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. 24 56
10929364 2000
10
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. 24 6
9525992 1998
11
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. 54 61 56
8782043 1996
12
Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. 54 6
10991694 2000
13
Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. 61 6
8304336 1994
14
Schmid Metaphyseal Chondrodysplasia 6
31633898 2019
15
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. 61 24
28830906 2018
16
Targeted induction of endoplasmic reticulum stress induces cartilage pathology. 61 24
19834559 2009
17
Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. 6
9852679 1998
18
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 6
9067753 1997
19
Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia. 6
8986632 1996
20
A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia. 6
8554571 1995
21
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 6
7607655 1995
22
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. 6
7749409 1995
23
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. 6
8012364 1994
24
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. 6
8004099 1994
25
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. 56
8361538 1993
26
Metaphyseal dysotosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes. 56
4349945 1973
27
Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect. 56
4265987 1973
28
THE NATURAL HISTORY OF METAPHYSEAL DYSOSTOSIS. 56
14279845 1965
29
METAPHYSIAL DYSOSTOSIS, TYPE SCHMID. 56
14223656 1964
30
ROENTGEN OBSERVATIONS IN FAMILIAL METAPHYSEAL DYSOSTOSIS. 56
14227699 1964
31
Familial bone disease resembling rickets (hereditary metaphysial dysostosis). 56
13917203 1962
32
Metaphyseal dysostosis: questionably a form of vitamin D-resistant rickets. 56
14485788 1962
33
Metaphyseal dysostosis. 56
13719292 1960
34
Familial metaphysial dysplasia. 56
13513655 1958
35
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. 24
30027601 2018
36
A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family. 24
29234170 2018
37
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
38
Timing, rates and spectra of human germline mutation. 24
26656846 2016
39
Nosology and classification of genetic skeletal disorders: 2015 revision. 24
26394607 2015
40
Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene. 24
25678758 2015
41
ClinVar: public archive of relationships among sequence variation and human phenotype. 24
24234437 2014
42
An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. 24
20522742 2010
43
Schmid type metaphyseal chondrodysplasia. 24
16424569 2005
44
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. 24
15880705 2005
45
Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response. 24
15695517 2005
46
Double heterozygosity in bone growth disorders: four new observations and review. 24
12923858 2003
47
Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize. 54 61
9920912 1999
48
Improving the Use of Mortality Data in Public Health: A Comparison of Garbage Code Redistribution Models. 61
31855478 2020
49
Effects of indirect actions and oxygen on relative biological effectiveness: estimate of DSB inductions and conversions induced by therapeutic proton beams. 61
31682784 2020
50
A journey through formation and malformations of the neo-cortex. 61
31776716 2020

Variations for Metaphyseal Chondrodysplasia, Schmid Type

ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL10A1 COL10A1, 1-BP DEL, 1856Cdeletion Pathogenic 17468
2 COL10A1 COL10A1, 2-BP DEL, FS665TERdeletion Pathogenic 17469
3 COL10A1 COL10A1, 10-BP DEL, NT1867deletion Pathogenic 17470
4 COL10A1 NM_000493.4(COL10A1):c.1858_1859del (p.Pro620fs)deletion Pathogenic 17471 rs1562122372 6:116441420-116441421 6:116120257-116120258
5 COL10A1 COL10A1, 13-BP DEL, NT1856deletion Pathogenic 17464
6 COL10A1 NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp)SNV Pathogenic 17465 rs111033544 6:116441487-116441487 6:116120324-116120324
7 COL10A1 NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro)SNV Pathogenic 17466 rs111033545 6:116441438-116441438 6:116120275-116120275
8 COL10A1 NM_000493.4(COL10A1):c.1771T>C (p.Cys591Arg)SNV Pathogenic 17467 rs111033546 6:116441508-116441508 6:116120345-116120345
9 COL10A1 NM_000493.4(COL10A1):c.1884C>G (p.Tyr628Ter)SNV Pathogenic 17472 rs111033543 6:116441395-116441395 6:116120232-116120232
10 COL10A1 NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter)SNV Pathogenic 17473 rs111033547 6:116441326-116441326 6:116120163-116120163
11 COL10A1 NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg)SNV Pathogenic 17474 rs111033549 6:116441328-116441328 6:116120165-116120165
12 COL10A1 NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg)SNV Pathogenic 17475 rs111033550 6:116446604-116446604 6:116125441-116125441
13 COL10A1 NM_000493.4(COL10A1):c.53G>A (p.Gly18Glu)SNV Pathogenic 17476 rs111033551 6:116446603-116446603 6:116125440-116125440
14 COL10A1 NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter)SNV Pathogenic 17478 rs111033548 6:116441383-116441383 6:116120220-116120220
15 COL10A1 NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu)SNV Pathogenic 17479 rs111033553 6:116441495-116441495 6:116120332-116120332
16 COL10A1 NM_000493.4(COL10A1):c.1790A>G (p.Tyr597Cys)SNV Pathogenic 17480 rs111033554 6:116441489-116441489 6:116120326-116120326
17 COL10A1 NM_000493.4(COL10A1):c.1798T>C (p.Ser600Pro)SNV Pathogenic 17481 rs111033555 6:116441481-116441481 6:116120318-116120318
18 COL10A1 NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter)SNV Pathogenic 17482 rs111033556 6:116441447-116441447 6:116120284-116120284
19 COL10A1 COL10A1, TYR663TERSNV Pathogenic 29632
20 COL10A1 NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro)SNV Likely pathogenic 17477 rs111033552 6:116441268-116441268 6:116120105-116120105
21 COL10A1 NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly)SNV Likely pathogenic 800885 6:116441508-116441508 6:116120345-116120345
22 COL10A1 NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del)deletion Likely pathogenic 802257 6:116441326-116441331 6:116120163-116120168
23 COL10A1 NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp)SNV Uncertain significance 548529 rs1403393545 6:116442230-116442230 6:116121067-116121067
24 COL10A1 NM_000493.4(COL10A1):c.*6_*7insCCCinsertion Benign 256259 rs140722 6:116441229-116441230 6:116120066-116120067
25 COL10A1 NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg)SNV Benign 256260 rs2228547 6:116441646-116441646 6:116120483-116120483
26 COL10A1 NM_000493.4(COL10A1):c.80T>C (p.Met27Thr)SNV Benign 256262 rs1064583 6:116446576-116446576 6:116125413-116125413

UniProtKB/Swiss-Prot genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

73 (show all 18)
# Symbol AA change Variation ID SNP ID
1 COL10A1 p.Gly18Glu VAR_001838 rs111033551
2 COL10A1 p.Gly18Arg VAR_001839 rs111033550
3 COL10A1 p.Cys591Arg VAR_001841 rs111033546
4 COL10A1 p.Gly595Glu VAR_001842 rs111033553
5 COL10A1 p.Tyr597His VAR_001843
6 COL10A1 p.Tyr598Asp VAR_001844 rs111033544
7 COL10A1 p.Ser600Pro VAR_001845 rs111033555
8 COL10A1 p.Leu614Pro VAR_001846 rs111033545
9 COL10A1 p.Asn617Lys VAR_001847
10 COL10A1 p.Gly618Val VAR_001848
11 COL10A1 p.Leu644Arg VAR_001849
12 COL10A1 p.Asp648Gly VAR_001850
13 COL10A1 p.Tyr597Cys VAR_008039 rs111033554
14 COL10A1 p.Tyr582Asp VAR_023188
15 COL10A1 p.Gly595Arg VAR_023189
16 COL10A1 p.Trp651Arg VAR_023191 rs111033549
17 COL10A1 p.Gln653Pro VAR_023192 rs127174278
18 COL10A1 p.Ser671Pro VAR_023193 rs111033552

Expression for Metaphyseal Chondrodysplasia, Schmid Type

Search GEO for disease gene expression data for Metaphyseal Chondrodysplasia, Schmid Type.

Pathways for Metaphyseal Chondrodysplasia, Schmid Type

Pathways related to Metaphyseal Chondrodysplasia, Schmid Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 UPF3B UPF3A UPF2 SMG8 RNPS1 MAGOHB
2
Show member pathways
11.87 UPF3B RNPS1 MAGOHB MAGOH
3
Show member pathways
11.67 UPF3B RNPS1 MAGOHB MAGOH
4 11.65 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
5 11.06 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH

GO Terms for Metaphyseal Chondrodysplasia, Schmid Type

Cellular components related to Metaphyseal Chondrodysplasia, Schmid Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exon-exon junction complex GO:0035145 9.1 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH

Biological processes related to Metaphyseal Chondrodysplasia, Schmid Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA splicing, via spliceosome GO:0000398 9.67 UPF3B RNPS1 MAGOHB MAGOH
2 mRNA transport GO:0051028 9.62 UPF3B UPF3A MAGOHB MAGOH
3 extracellular matrix organization GO:0030198 9.58 COMP COL8A2 COL10A1
4 mRNA 3'-end processing GO:0031124 9.56 UPF3B RNPS1 MAGOHB MAGOH
5 RNA export from nucleus GO:0006405 9.46 UPF3B RNPS1 MAGOHB MAGOH
6 mRNA export from nucleus GO:0006406 9.35 UPF3B UPF2 RNPS1 MAGOHB MAGOH
7 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.17 UPF3B UPF3A UPF2 SMG8 RNPS1 MAGOHB

Molecular functions related to Metaphyseal Chondrodysplasia, Schmid Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.73 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL8A2 COL10A1
3 structural constituent of nuclear pore GO:0017056 9.16 UPF3B UPF3A
4 telomeric DNA binding GO:0042162 8.96 UPF3A UPF2
5 extracellular matrix structural constituent GO:0005201 8.8 COMP COL8A2 COL10A1

Sources for Metaphyseal Chondrodysplasia, Schmid Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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