MCDS
MCID: MTP025
MIFTS: 48

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 57 59 29 13 55 6
Metaphyseal Chondrodysplasia Schmid Type 75 53 72
Schmid Metaphyseal Chondrodysplasia 12 15
Mcds 57 53
Spondylometaphyseal Dysplasia, Japanese Type 57
Japanese Type Spondylometaphyseal Dysplasia 12
Chondrodysplasia, Metaphyseal, Schmid Type 40
Corneal Dystrophy, Subepithelial Mucinous 72
Schmid Type Metaphyseal Chondrodysplasia 74
Schmid Type Metaphyseal Dysplasia 12
Smcd 74

Characteristics:

Orphanet epidemiological data:

59
metaphyseal chondrodysplasia, schmid type
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
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:

32
metaphyseal chondrodysplasia, schmid type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080021
OMIM 57 156500
MESH via Orphanet 45 C537352
ICD10 via Orphanet 34 Q78.5
UMLS via Orphanet 73 C0265289
Orphanet 59 ORPHA174
MedGen 42 C0265289
UMLS 72 C0265289 C2748503

Summaries for Metaphyseal Chondrodysplasia, Schmid Type

NIH Rare Diseases : 53 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-hair hypoplasia. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Degradation of the extracellular matrix. Affiliated tissues include bone, 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 : 57 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 : 74 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 : 75 Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of... more...

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 88)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 32.6 XBP1 RMRP COL10A1
2 cartilage-hair hypoplasia 31.4 RMRP COL10A1
3 skeletal dysplasias 31.3 MATN3 COMP
4 cartilage disease 31.1 COMP COL10A1
5 pyle disease 31.1 RMRP COL10A1
6 multicentric castleman disease 12.2
7 malonyl-coa decarboxylase deficiency 12.2
8 macular dystrophy, corneal 12.2
9 multiple carboxylase deficiency 12.1
10 kaposi sarcoma 11.9
11 holocarboxylase synthetase deficiency 11.9
12 biotinidase deficiency 11.8
13 lipoid nephrosis 11.6
14 focal segmental glomerulosclerosis 11.6
15 spondylometaphyseal dysplasia, algerian type 11.6
16 metaphyseal dysplasia, spahr type 11.6
17 systemic mastocytosis 11.4
18 c1q nephropathy 11.3
19 corneal dystrophy, meesmann 11.1
20 cortical malformations, occipital 11.1
21 microlissencephaly 11.1
22 non-alcoholic steatohepatitis 10.5
23 spondyloepimetaphyseal dysplasia, strudwick type 10.5
24 epiphyseal dysplasia, multiple, 3 10.4 MATN3 COMP
25 epiphyseal dysplasia, multiple, 5 10.4 MATN3 COMP
26 fatty liver disease 10.4
27 coxa vara 10.3
28 scoliosis 10.3
29 odontochondrodysplasia 10.3
30 lipoid congenital adrenal hyperplasia 10.3
31 metaphyseal dysplasia without hypotrichosis 10.3
32 fatty liver disease, nonalcoholic 1 10.3
33 non-alcoholic fatty liver disease 10.3
34 castleman disease 10.3
35 liver disease 10.3
36 bone chondrosarcoma 10.3 RUNX2 COMP
37 epiphyseal dysplasia, multiple, 1 10.2 MATN3 COMP
38 maturity-onset diabetes of the young, type 10 10.2 XBP1 ATF6
39 cortical dysplasia, complex, with other brain malformations 7 10.2
40 nephrotic syndrome 10.2
41 epilepsy 10.2
42 glomerulonephritis 10.2
43 osteochondritis dissecans 10.2 MATN3 COMP
44 atrial standstill 1 10.1
45 lissencephaly 10.1
46 pertussis 10.1
47 mesangial proliferative glomerulonephritis 10.1
48 cytokine deficiency 10.1
49 kshv inflammatory cytokine syndrome 10.1
50 primary effusion lymphoma 10.1

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
2 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
3 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
4 moderately short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008848
5 limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009826
6 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
7 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
8 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
9 diaphyseal thickening 59 32 frequent (33%) Frequent (79-30%) HP:0005019
10 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
11 abnormality of bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004348
12 hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0003072
13 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
14 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
15 platyspondyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000926
16 irregular vertebral endplates 59 32 occasional (7.5%) Occasional (29-5%) HP:0003301
17 irregular acetabular roof 59 32 occasional (7.5%) Occasional (29-5%) HP:0008833
18 bowing of the long bones 59 Very frequent (99-80%)
19 waddling gait 32 HP:0002515
20 metaphyseal chondrodysplasia 32 HP:0005871
21 metaphyseal cupping of metacarpals 32 HP:0006028
22 short distal phalanx of finger 32 HP:0009882
23 femoral bowing 32 HP:0002980
24 mild short stature 32 HP:0003502
25 short middle phalanx of finger 32 HP:0005819
26 proximal femoral metaphyseal abnormality 32 HP:0006431
27 enlargement of the proximal femoral epiphysis 32 HP:0003371
28 metaphyseal cupping of proximal phalanges 32 HP:0006208
29 distal tibial bowing 32 HP:0006414
30 broad middle phalanx of finger 32 HP:0009844

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 ATF6 CEBPB COL10A1 COMP GADD45B MANF
2 growth/size/body region MP:0005378 9.85 ATF6 CEBPB COL10A1 COMP MANF MATN3
3 endocrine/exocrine gland MP:0005379 9.8 ATF6 CEBPB COL10A1 MANF RUNX2 TYR
4 limbs/digits/tail MP:0005371 9.43 COL10A1 COMP MATN3 RUNX2 SERPINH1 TYR
5 skeleton MP:0005390 9.23 CEBPB COL10A1 COMP MATN3 RUNX2 SERPINH1

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:

41
Bone

Publications for Metaphyseal Chondrodysplasia, Schmid Type

Articles related to Metaphyseal Chondrodysplasia, Schmid Type:

(show all 42)
# 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. 9 8 71
17403716 2007
2
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. 8 71
12554676 2003
3
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 8 71
9837818 1998
4
Japanese type of spondylo-metaphyseal dysplasia. 8 71
7936797 1994
5
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. 8 71
8220429 1993
6
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. 9 71
10991694 2000
7
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. 9 8
8782043 1996
8
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. 38 8
3281118 1988
9
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. 8
16088909 2005
10
Hand involvement in Schmid metaphyseal chondrodysplasia. 8
15578582 2005
11
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. 8
10929364 2000
12
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. 71
9525992 1998
13
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. 71
9852679 1998
14
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 71
9067753 1997
15
Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia. 71
8986632 1996
16
A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia. 71
8554571 1995
17
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 71
7607655 1995
18
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. 71
7749409 1995
19
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. 71
8012364 1994
20
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. 71
8004099 1994
21
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. 71
8304336 1994
22
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. 8
8361538 1993
23
Metaphyseal dysotosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes. 8
4349945 1973
24
Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect. 8
4265987 1973
25
THE NATURAL HISTORY OF METAPHYSEAL DYSOSTOSIS. 8
14279845 1965
26
METAPHYSIAL DYSOSTOSIS, TYPE SCHMID. 8
14223656 1964
27
ROENTGEN OBSERVATIONS IN FAMILIAL METAPHYSEAL DYSOSTOSIS. 8
14227699 1964
28
Familial bone disease resembling rickets (hereditary metaphysial dysostosis). 8
13917203 1962
29
Metaphyseal dysostosis: questionably a form of vitamin D-resistant rickets. 8
14485788 1962
30
Metaphyseal dysostosis. 8
13719292 1960
31
Familial metaphysial dysplasia. 8
13513655 1958
32
Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis. 38
30543055 2019
33
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. 38
28830906 2018
34
Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy. 38
21935428 2011
35
[Bone dysplasia with short limb]. 38
19043194 2008
36
From collagen chemistry towards cell therapy - a personal journey. 9
17696900 2007
37
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. 9
9920912 1999
38
[Metaphyseal chondrodysplasia as differential diagnosis to rickets]. 38
8644413 1996
39
Histological, biochemical, and MRI studies of the growth plate in congenital coxa vara. 38
2513336 1989
40
[A kindred of metaphyseal chondrodysplasia, Schmid type]. 38
3273687 1988
41
Picture of the month. Metaphyseal chondrodysplasia, Schmid type. 38
7395832 1980
42
Metaphyseal chondrodysplasia, Schmid type. A defect of ultrastructural metabolism: case report. 38
7380864 1980

Variations for Metaphyseal Chondrodysplasia, Schmid Type

ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL10A1 COL10A1, 13-BP DEL, NT1856 deletion Pathogenic
2 COL10A1 NM_000493.4(COL10A1): c.1792T> G (p.Tyr598Asp) single nucleotide variant Pathogenic rs111033544 6:116441487-116441487 6:116120324-116120324
3 COL10A1 NM_000493.4(COL10A1): c.1841T> C (p.Leu614Pro) single nucleotide variant Pathogenic rs111033545 6:116441438-116441438 6:116120275-116120275
4 COL10A1 NM_000493.4(COL10A1): c.1771T> C (p.Cys591Arg) single nucleotide variant Pathogenic rs111033546 6:116441508-116441508 6:116120345-116120345
5 COL10A1 COL10A1, 1-BP DEL, 1856C deletion Pathogenic
6 COL10A1 COL10A1, 2-BP DEL, FS665TER deletion Pathogenic
7 COL10A1 COL10A1, 10-BP DEL, NT1867 deletion Pathogenic
8 COL10A1 NM_000493.4(COL10A1): c.1858_1859del (p.Pro620fs) deletion Pathogenic 6:116441420-116441421 6:116120257-116120258
9 COL10A1 NM_000493.4(COL10A1): c.1884C> G (p.Tyr628Ter) single nucleotide variant Pathogenic rs111033543 6:116441395-116441395 6:116120232-116120232
10 COL10A1 NM_000493.4(COL10A1): c.1953G> A (p.Trp651Ter) single nucleotide variant Pathogenic rs111033547 6:116441326-116441326 6:116120163-116120163
11 COL10A1 NM_000493.4(COL10A1): c.1951T> C (p.Trp651Arg) single nucleotide variant Pathogenic rs111033549 6:116441328-116441328 6:116120165-116120165
12 COL10A1 NM_000493.4(COL10A1): c.52G> A (p.Gly18Arg) single nucleotide variant Pathogenic rs111033550 6:116446604-116446604 6:116125441-116125441
13 COL10A1 NM_000493.4(COL10A1): c.53G> A (p.Gly18Glu) single nucleotide variant Pathogenic rs111033551 6:116446603-116446603 6:116125440-116125440
14 COL10A1 NM_000493.4(COL10A1): c.2011T> C (p.Ser671Pro) single nucleotide variant Pathogenic rs111033552 6:116441268-116441268 6:116120105-116120105
15 COL10A1 NM_000493.4(COL10A1): c.1896C> A (p.Tyr632Ter) single nucleotide variant Pathogenic rs111033548 6:116441383-116441383 6:116120220-116120220
16 COL10A1 NM_000493.4(COL10A1): c.1784G> A (p.Gly595Glu) single nucleotide variant Pathogenic rs111033553 6:116441495-116441495 6:116120332-116120332
17 COL10A1 NM_000493.4(COL10A1): c.1790A> G (p.Tyr597Cys) single nucleotide variant Pathogenic rs111033554 6:116441489-116441489 6:116120326-116120326
18 COL10A1 NM_000493.4(COL10A1): c.1798T> C (p.Ser600Pro) single nucleotide variant Pathogenic rs111033555 6:116441481-116441481 6:116120318-116120318
19 COL10A1 NM_000493.4(COL10A1): c.1832G> A (p.Trp611Ter) single nucleotide variant Pathogenic rs111033556 6:116441447-116441447 6:116120284-116120284
20 COL10A1 COL10A1, TYR663TER single nucleotide variant Pathogenic
21 COL10A1 NM_000493.4(COL10A1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs1403393545 6:116442230-116442230 6:116121067-116121067

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

74 (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 11.7 RUNX2 GADD45B CEBPB
2
Show member pathways
11.67 SERPINH1 MATN3 LOX COMP COL10A1
3 10.94 SERPINH1 RUNX2 COL10A1
4 10.87 CEBPB ATF6
5 10.62 XBP1 ATF6

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 extracellular matrix GO:0031012 9.46 MATN3 LOX COMP COL10A1
2 endoplasmic reticulum lumen GO:0005788 9.26 SERPINH1 MATN3 MANF COL10A1
3 collagen trimer GO:0005581 8.8 SERPINH1 LOX COL10A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 MATN3 COMP COL10A1
2 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.32 XBP1 CEBPB
3 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.26 CEBPB ATF6
4 skeletal system development GO:0001501 9.26 RUNX2 MATN3 COMP COL10A1
5 ATF6-mediated unfolded protein response GO:0036500 9.16 XBP1 ATF6
6 response to unfolded protein GO:0006986 8.92 XBP1 SERPINH1 MANF ATF6

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 XBP1 RUNX2 CEBPB ATF6
2 extracellular matrix structural constituent GO:0005201 9.13 MATN3 COMP COL10A1
3 protein heterodimerization activity GO:0046982 9.02 XBP1 TYR DR1 CEBPB ATF6

Sources for Metaphyseal Chondrodysplasia, Schmid Type

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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