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MCDS
MCID: MTP025
MIFTS: 52

Metaphyseal Chondrodysplasia, Schmid Type (MCDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Metaphyseal Chondrodysplasia, Schmid Type

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
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
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Summaries for Metaphyseal Chondrodysplasia, Schmid Type

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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 cartilage disease. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Gene Expression and Viral mRNA Translation. Affiliated tissues include bone, brain and breast, and related phenotypes are genu varum and coxa vara

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
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Related Diseases for Metaphyseal Chondrodysplasia, Schmid Type

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 32.5 DR1 CRYAA COL10A1
2 cartilage disease 30.5 COMP COL10A1
3 macular dystrophy, corneal 12.4
4 multicentric castleman disease 12.3
5 malonyl-coa decarboxylase deficiency 12.2
6 multiple carboxylase deficiency 12.1
7 holocarboxylase synthetase deficiency 12.0
8 biotinidase deficiency 11.8
9 focal segmental glomerulosclerosis 11.6
10 spondylometaphyseal dysplasia, algerian type 11.6
11 metaphyseal dysplasia, spahr type 11.6
12 kaposi sarcoma 11.5
13 systemic mastocytosis 11.4
14 lipoid nephrosis 11.3
15 c1q nephropathy 11.3
16 corneal dystrophy, meesmann, 1 11.2
17 cortical malformations, occipital 11.2
18 microlissencephaly 11.1
19 skeletal dysplasias 10.6
20 non-alcoholic steatohepatitis 10.5
21 coxa vara 10.5
22 spondyloepimetaphyseal dysplasia, strudwick type 10.5
23 cartilage-hair hypoplasia 10.5
24 fatty liver disease, nonalcoholic 1 10.4
25 fatty liver disease 10.4
26 non-alcoholic fatty liver disease 10.4
27 factor vii deficiency 10.3
28 scoliosis 10.3
29 rickets 10.3
30 dwarfism 10.3
31 hereditary hypophosphatemic rickets 10.3
32 odontochondrodysplasia 10.3
33 lipoid congenital adrenal hyperplasia 10.3
34 metaphyseal dysplasia without hypotrichosis 10.3
35 metaphyseal dysplasia 10.3
36 castleman disease 10.3
37 liver disease 10.3
38 cortical dysplasia, complex, with other brain malformations 10 10.3
39 interstitial keratitis 10.2 CRYAA COL8A2
40 lissencephaly 10.2
41 nephrotic syndrome 10.2
42 glomerulonephritis 10.2
43 epithelial and subepithelial dystrophy 10.2 COL8A2 COL10A1
44 atrial standstill 1 10.1
45 pertussis 10.1
46 mesangial proliferative glomerulonephritis 10.1
47 cytokine deficiency 10.1
48 kshv inflammatory cytokine syndrome 10.1
49 lymphoma aids related 10.1
50 pachygyria 10.1

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



Diseases related to Metaphyseal Chondrodysplasia, Schmid Type
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Symptoms & Phenotypes for Metaphyseal Chondrodysplasia, Schmid Type

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Human phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu varum 58 31 hallmark (90%) Frequent (79-30%) HP:0002970
2 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
3 limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009826
4 abnormality of the metaphysis 31 hallmark (90%) HP:0000944
5 moderately short stature 31 hallmark (90%) HP:0008848
6 hearing impairment 31 frequent (33%) HP:0000365
7 frontal bossing 31 frequent (33%) HP:0002007
8 diaphyseal thickening 31 frequent (33%) HP:0005019
9 micrognathia 31 frequent (33%) HP:0000347
10 brachydactyly 31 frequent (33%) HP:0001156
11 abnormality of bone mineral density 31 frequent (33%) HP:0004348
12 hypercalcemia 31 frequent (33%) HP:0003072
13 craniosynostosis 31 frequent (33%) HP:0001363
14 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
15 irregular vertebral endplates 58 31 occasional (7.5%) Occasional (29-5%) HP:0003301
16 abnormality of epiphysis morphology 31 occasional (7.5%) HP:0005930
17 irregular acetabular roof 31 occasional (7.5%) HP:0008833
18 waddling gait 58 31 Very frequent (99-80%) HP:0002515
19 femoral bowing 58 31 Frequent (79-30%) HP:0002980
20 metaphyseal cupping of metacarpals 58 31 Frequent (79-30%) HP:0006028
21 proximal femoral metaphyseal abnormality 58 31 Very frequent (99-80%) HP:0006431
22 metaphyseal cupping of proximal phalanges 58 31 Frequent (79-30%) HP:0006208
23 hip dysplasia 58 Frequent (79-30%)
24 abnormal vertebral morphology 58 Occasional (29-5%)
25 arthralgia 58 Occasional (29-5%)
26 obesity 58 Occasional (29-5%)
27 short distal phalanx of finger 31 HP:0009882
28 disproportionate short-limb short stature 58 Frequent (79-30%)
29 short long bone 58 Frequent (79-30%)
30 short middle phalanx of finger 31 HP:0005819
31 mild short stature 31 HP:0003502
32 anterior rib cupping 58 Frequent (79-30%)
33 metaphyseal chondrodysplasia 31 HP:0005871
34 flared metaphysis 58 Frequent (79-30%)
35 metaphyseal cupping 58 Very frequent (99-80%)
36 metaphyseal irregularity 58 Very frequent (99-80%)
37 lumbar hyperlordosis 58 Occasional (29-5%)
38 bowing of the legs 58 Occasional (29-5%)
39 proximal femoral metaphyseal irregularity 58 Frequent (79-30%)
40 short tubular bones of the hand 58 Frequent (79-30%)
41 broad proximal phalanges of the hand 58 Frequent (79-30%)
42 broad middle phalanx of finger 31 HP:0009844
43 thick growth plates 58 Very frequent (99-80%)
44 distal femoral metaphyseal abnormality 58 Very frequent (99-80%)
45 widened proximal tibial metaphyses 58 Frequent (79-30%)
46 abnormalities of the metaphyses of the hand 58 Frequent (79-30%)
47 osteosclerosis of ribs 58 Frequent (79-30%)
48 distal femoral metaphyseal irregularity 58 Frequent (79-30%)
49 radial metaphyseal irregularity 58 Occasional (29-5%)
50 ulnar metaphyseal irregularity 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

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

Skeletal Spine:
mild platyspondyly
endplate irregularity

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

Growth Height:
short stature, mild to moderate
adult height 130-160cm

Skeletal:
no osteoarthritic symptoms

Clinical features from OMIM:

156500
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Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Schmid Type

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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

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Genetic Tests for Metaphyseal Chondrodysplasia, Schmid Type

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Genetic tests related to Metaphyseal Chondrodysplasia, Schmid Type:

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

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

40
Bone, Brain, Breast, Cortex, Testes, Bone Marrow, Heart
Sources

Publications for Metaphyseal Chondrodysplasia, Schmid Type

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Articles related to Metaphyseal Chondrodysplasia, Schmid Type:

(show top 50) (show all 327)
# 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. 61 6 56 54
17403716 2007
2
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. 56 6 24
12554676 2003
3
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 24 6 56
9837818 1998
4
Japanese type of spondylo-metaphyseal dysplasia. 6 24 56
7936797 1994
5
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. 24 56 61
16088909 2005
6
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. 6 56
8220429 1993
7
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. 56 24 61
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. 6 24
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. 61 54 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. 6 54
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. 6 61
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. 24 61
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
A sensitive two-step stacking by coupling field-enhanced sample injection and micelle to cyclodextrin stacking for the determination of neutral analytes. 61
31980258 2020
49
Multi-functional MnO2-doped Fe3O4 nanoparticles as an artificial enzyme for the colorimetric detection of bacteria. 61
32285182 2020
50
A review on mobile phones as bacterial reservoirs in healthcare environments and potential device decontamination approaches. 61
32339954 2020
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Variations for Metaphyseal Chondrodysplasia, Schmid Type

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ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

6 (show top 50) (show all 101) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL10A1 COL10A1, 13-BP DEL, NT1856deletion Pathogenic 17464
2 COL10A1 NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp)SNV Pathogenic 17465 rs111033544 6:116441487-116441487 6:116120324-116120324
3 COL10A1 NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro)SNV Pathogenic 17466 rs111033545 6:116441438-116441438 6:116120275-116120275
4 COL10A1 NM_000493.4(COL10A1):c.1771T>C (p.Cys591Arg)SNV Pathogenic 17467 rs111033546 6:116441508-116441508 6:116120345-116120345
5 COL10A1 COL10A1, 1-BP DEL, 1856Cdeletion Pathogenic 17468
6 COL10A1 COL10A1, 2-BP DEL, FS665TERdeletion Pathogenic 17469
7 COL10A1 COL10A1, 10-BP DEL, NT1867deletion Pathogenic 17470
8 COL10A1 NM_000493.4(COL10A1):c.1858_1859del (p.Pro620fs)deletion Pathogenic 17471 rs1562122372 6:116441420-116441421 6:116120257-116120258
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.158T>G (p.Ile53Arg)SNV Conflicting interpretations of pathogenicity 843130 6:116443121-116443121 6:116121958-116121958
24 COL10A1 NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser)SNV Conflicting interpretations of pathogenicity 730824 6:116442135-116442135 6:116120972-116120972
25 COL10A1 NM_000493.4(COL10A1):c.1267C>T (p.Pro423Ser)SNV Uncertain significance 547009 rs759211032 6:116442012-116442012 6:116120849-116120849
26 COL10A1 NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp)SNV Uncertain significance 548529 rs1403393545 6:116442230-116442230 6:116121067-116121067
27 COL10A1 NM_000493.4(COL10A1):c.*1145A>GSNV Uncertain significance 905642 6:116440091-116440091 6:116118928-116118928
28 COL10A1 NM_000493.4(COL10A1):c.*1085G>ASNV Uncertain significance 905643 6:116440151-116440151 6:116118988-116118988
29 COL10A1 NM_000493.4(COL10A1):c.*1038C>TSNV Uncertain significance 905644 6:116440198-116440198 6:116119035-116119035
30 COL10A1 NM_000493.4(COL10A1):c.*900G>ASNV Uncertain significance 906153 6:116440336-116440336 6:116119173-116119173
31 COL10A1 NM_000493.4(COL10A1):c.*572T>CSNV Uncertain significance 906154 6:116440664-116440664 6:116119501-116119501
32 COL10A1 NM_000493.4(COL10A1):c.*455T>CSNV Uncertain significance 906155 6:116440781-116440781 6:116119618-116119618
33 COL10A1 NM_000493.4(COL10A1):c.*428G>ASNV Uncertain significance 907159 6:116440808-116440808 6:116119645-116119645
34 COL10A1 NM_000493.4(COL10A1):c.*324A>GSNV Uncertain significance 907160 6:116440912-116440912 6:116119749-116119749
35 COL10A1 NM_000493.4(COL10A1):c.*292A>GSNV Uncertain significance 907161 6:116440944-116440944 6:116119781-116119781
36 COL10A1 NM_000493.4(COL10A1):c.*185T>GSNV Uncertain significance 903803 6:116441051-116441051 6:116119888-116119888
37 COL10A1 NM_000493.4(COL10A1):c.*137C>TSNV Uncertain significance 903805 6:116441099-116441099 6:116119936-116119936
38 COL10A1 NM_000493.4(COL10A1):c.*52C>TSNV Uncertain significance 903806 6:116441184-116441184 6:116120021-116120021
39 COL10A1 NM_000493.4(COL10A1):c.567G>A (p.Gly189=)SNV Uncertain significance 903875 6:116442712-116442712 6:116121549-116121549
40 COL10A1 NM_000493.4(COL10A1):c.357G>C (p.Glu119Asp)SNV Uncertain significance 905764 6:116442922-116442922 6:116121759-116121759
41 COL10A1 NM_000493.4(COL10A1):c.323C>G (p.Pro108Arg)SNV Uncertain significance 905765 6:116442956-116442956 6:116121793-116121793
42 COL10A1 NM_000493.4(COL10A1):c.80T>G (p.Met27Arg)SNV Uncertain significance 906276 6:116446576-116446576 6:116125413-116125413
43 COL10A1 NM_000493.4(COL10A1):c.60T>C (p.Phe20=)SNV Uncertain significance 906277 6:116446596-116446596 6:116125433-116125433
44 COL10A1 NM_000493.4(COL10A1):c.1016C>T (p.Pro339Leu)SNV Uncertain significance 281436 rs373185008 6:116442263-116442263 6:116121100-116121100
45 COL10A1 NM_000493.4(COL10A1):c.1073C>T (p.Pro358Leu)SNV Uncertain significance 355099 rs372281591 6:116442206-116442206 6:116121043-116121043
46 COL10A1 NM_000493.4(COL10A1):c.71G>A (p.Arg24Gln)SNV Uncertain significance 355114 rs766938257 6:116446585-116446585 6:116125422-116125422
47 COL10A1 NM_000493.4(COL10A1):c.-16+7G>ASNV Uncertain significance 355116 rs768097903 6:116447209-116447209 6:116126046-116126046
48 COL10A1 NM_000493.4(COL10A1):c.*511T>CSNV Uncertain significance 355076 rs886060989 6:116440725-116440725 6:116119562-116119562
49 COL10A1 NM_000493.4(COL10A1):c.1255G>A (p.Gly419Ser)SNV Uncertain significance 355096 rs369941065 6:116442024-116442024 6:116120861-116120861
50 COL10A1 NM_000493.4(COL10A1):c.460G>A (p.Val154Met)SNV Uncertain significance 355104 rs886060993 6:116442819-116442819 6:116121656-116121656

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

Sources

Expression for Metaphyseal Chondrodysplasia, Schmid Type

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

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

# Super pathways Score Top Affiliating Genes
1
Gene Expression 65
Show member pathways
 13.35 UPF3B UPF3A UPF2 SMG8 RNPS1 MAGOHB
2
Viral mRNA Translation 65
Show member pathways
 13.27 UPF3B UPF3A UPF2 SMG8 RNPS1 MAGOHB
3
Cleavage of Growing Transcript in the Termination Region 65
Show member pathways
 11.87 UPF3B RNPS1 MAGOHB MAGOH
4
RNA transport 36
11.69 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
5
Transport of Mature Transcript to Cytoplasm 65
Show member pathways
 11.67 UPF3B RNPS1 MAGOHB MAGOH
6
mRNA surveillance pathway 36
11.06 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
Sources

GO Terms for Metaphyseal Chondrodysplasia, Schmid Type

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.56 UPF3B UPF3A RNPS1 MAGOHB MAGOH ESCO2
2 extracellular matrix GO:0031012 9.33 COMP COL8A2 COL10A1
3 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 RNA export from nucleus GO:0006405 9.56 UPF3B RNPS1 MAGOHB MAGOH
5 mRNA 3'-end processing GO:0031124 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 9.43 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 9.26 UPF3B UPF3A
4 telomeric DNA binding GO:0042162 9.16 UPF3A UPF2
5 extracellular matrix structural constituent GO:0005201 8.8 COMP COL8A2 COL10A1
Sources

Sources for Metaphyseal Chondrodysplasia, Schmid Type

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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