SMCD
MCID: MTP025
MIFTS: 49

Metaphyseal Chondrodysplasia, Schmid Type (SMCD)

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 58 60 30 13 56 6
Metaphyseal Chondrodysplasia Schmid Type 54 74
Schmid Metaphyseal Chondrodysplasia 12 15
Mcds 58 54
Spondylometaphyseal Dysplasia, Japanese Type 58
Japanese Type Spondylometaphyseal Dysplasia 12
Chondrodysplasia, Metaphyseal, Schmid Type 41
Corneal Dystrophy, Subepithelial Mucinous 74
Schmid Type Metaphyseal Chondrodysplasia 76
Schmid Type Metaphyseal Dysplasia 12
Smcd 76

Characteristics:

Orphanet epidemiological data:

60
metaphyseal chondrodysplasia, schmid type
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
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:

33
metaphyseal chondrodysplasia, schmid type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080021
OMIM 58 156500
MESH via Orphanet 46 C537352
ICD10 via Orphanet 35 Q78.5
UMLS via Orphanet 75 C0265289
Orphanet 60 ORPHA174
MedGen 43 C0265289

Summaries for Metaphyseal Chondrodysplasia, Schmid Type

NIH Rare Diseases : 54 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, 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 : 58 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 : 76 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 : 77 Schmid metaphyseal chondrodysplasia 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 58)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 32.2 COL10A1 RMRP XBP1
2 cartilage-hair hypoplasia 30.9 COL10A1 RMRP
3 multicentric castleman disease 12.1
4 malonyl-coa decarboxylase deficiency 12.0
5 macular dystrophy, corneal 12.0
6 multiple carboxylase deficiency 12.0
7 kaposi sarcoma 11.8
8 holocarboxylase synthetase deficiency 11.8
9 biotinidase deficiency 11.7
10 lipoid nephrosis 11.5
11 focal segmental glomerulosclerosis 11.5
12 spondylometaphyseal dysplasia, algerian type 11.5
13 metaphyseal dysplasia, spahr type 11.5
14 systemic mastocytosis 11.3
15 c1q nephropathy 11.2
16 corneal dystrophy, meesmann 11.0
17 cortical malformations, occipital 11.0
18 microlissencephaly 11.0
19 lipoid congenital adrenal hyperplasia 10.3
20 metaphyseal dysplasia without hypotrichosis 10.3
21 castleman disease 10.3
22 pyle disease 10.2 COL10A1 RMRP
23 cartilage disease 10.2 COL10A1 COMP
24 epiphyseal dysplasia, multiple, 3 10.2 COMP MATN3
25 epiphyseal dysplasia, multiple, 5 10.2 COMP MATN3
26 skeletal dysplasias 10.2 COMP MATN3
27 mastocytosis 10.2
28 liver disease 10.2
29 nonalcoholic fatty liver disease 10.2
30 sarcoma 10.2
31 fatty liver disease 10.2
32 epiphyseal dysplasia, multiple, 1 10.1 COMP MATN3
33 osteochondritis dissecans 10.1 COMP MATN3
34 spondyloepimetaphyseal dysplasia, strudwick type 10.1
35 focal segmental glomerulosclerosis 1 10.1
36 cortical dysplasia, complex, with other brain malformations 7 10.1
37 glomerulonephritis 10.1
38 nephrotic syndrome 10.1
39 epilepsy 10.1
40 kshv inflammatory cytokine syndrome 10.1
41 nonalcoholic steatohepatitis 10.1
42 maturity-onset diabetes of the young, type 10 10.1 ATF6 XBP1
43 pseudoachondroplasia 10.1 COMP MATN3
44 bone chondrosarcoma 10.0 COMP RUNX2
45 aplasia cutis congenita, nonsyndromic 9.9
46 fish-eye disease 9.9
47 systemic lupus erythematosus 9.9
48 neutrophil migration 9.9
49 myeloma, multiple 9.9
50 poems syndrome 9.9

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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
2 genu varum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002970
3 coxa vara 60 33 hallmark (90%) Very frequent (99-80%) HP:0002812
4 moderately short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008848
5 limb undergrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009826
6 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
7 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
8 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
9 diaphyseal thickening 60 33 frequent (33%) Frequent (79-30%) HP:0005019
10 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
11 hypercalcemia 60 33 frequent (33%) Frequent (79-30%) HP:0003072
12 craniosynostosis 60 33 frequent (33%) Frequent (79-30%) HP:0001363
13 abnormality of bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0004348
14 abnormality of epiphysis morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005930
15 platyspondyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000926
16 irregular vertebral endplates 60 33 occasional (7.5%) Occasional (29-5%) HP:0003301
17 irregular acetabular roof 60 33 occasional (7.5%) Occasional (29-5%) HP:0008833
18 bowing of the long bones 60 Very frequent (99-80%)
19 waddling gait 33 HP:0002515
20 metaphyseal chondrodysplasia 33 HP:0005871
21 metaphyseal cupping of metacarpals 33 HP:0006028
22 short distal phalanx of finger 33 HP:0009882
23 femoral bowing 33 HP:0002980
24 mild short stature 33 HP:0003502
25 short middle phalanx of finger 33 HP:0005819
26 metaphyseal cupping of proximal phalanges 33 HP:0006208
27 enlargement of the proximal femoral epiphysis 33 HP:0003371
28 distal tibial bowing 33 HP:0006414
29 proximal femoral metaphyseal abnormality 33 HP:0006431
30 broad middle phalanx of finger 33 HP:0009844

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
metaphyseal cupping of metacarpals
hypoplastic distal phalanges
metaphyseal cupping of proximal 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 ATF6 CEBPB COL10A1 COMP GADD45B MANF
2 growth/size/body region MP:0005378 9.81 ATF6 CEBPB COL10A1 COMP MANF MATN3
3 limbs/digits/tail MP:0005371 9.35 COL10A1 COMP MATN3 RUNX2 SERPINH1
4 skeleton MP:0005390 9.17 CEBPB COL10A1 COMP MATN3 RUNX2 SERPINH1

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Schmid Type

Search Clinical Trials , 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 30 COL10A1

Anatomical Context for Metaphyseal Chondrodysplasia, Schmid Type

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

42
Bone, Liver, Brain, Eye, Neutrophil

Publications for Metaphyseal Chondrodysplasia, Schmid Type

Articles related to Metaphyseal Chondrodysplasia, Schmid Type:

(show all 24)
# Title Authors Year
1
Molecular Cloning Designer Simulator (MCDS): All-in-one molecular cloning and genetic engineering design, simulation and management software for complex synthetic biology and metabolic engineering projects. ( 29468123 )
2016
2
Diversity and the Civic Spirit in British Neighbourhoods: An Investigation with MCDS and EMBES 2010 Data. ( 25544783 )
2014
3
Malformations of cortical development (MCDs) and epilepsy: experience from a tertiary care center in south India. ( 20144553 )
2010
4
Immunohistochemical expression of fibroblast growth factor (FGF)-2 in epilepsy-associated malformations of cortical development (MCDs). ( 18179408 )
2008
5
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. ( 17403716 )
2007
6
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. ( 12554676 )
2003
7
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. ( 10991694 )
2000
8
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. ( 9837818 )
1998
9
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. ( 9852679 )
1998
10
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. ( 9525992 )
1998
11
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. ( 9067753 )
1997
12
Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia. ( 8986632 )
1996
13
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. ( 7607655 )
1995
14
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. ( 7749409 )
1995
15
A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia. ( 8554571 )
1995
16
Japanese type of spondylo-metaphyseal dysplasia. ( 7936797 )
1994
17
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. ( 8012364 )
1994
18
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. ( 8304336 )
1994
19
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. ( 8004099 )
1994
20
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. ( 8220429 )
1993
21
Potent inhibitory effect of a series of modified cyclodextrin sulfates (mCDS) on the replication of HIV-1 in vitro. ( 1712396 )
1991
22
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. ( 3281118 )
1988
23
Metaphyseal chondrodysplasia, Schmid type. A defect of ultrastructural metabolism: case report. ( 7380864 )
1980
24
Picture of the month. Metaphyseal chondrodysplasia, Schmid type. ( 7395832 )
1980

Variations for Metaphyseal Chondrodysplasia, Schmid Type

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

76 (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

ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL10A1 NM_000493.3(COL10A1): c.1884C> G (p.Tyr628Ter) single nucleotide variant Pathogenic rs111033543 GRCh37 Chromosome 6, 116441395: 116441395
2 COL10A1 NM_000493.3(COL10A1): c.1884C> G (p.Tyr628Ter) single nucleotide variant Pathogenic rs111033543 GRCh38 Chromosome 6, 116120232: 116120232
3 COL10A1 NM_000493.3(COL10A1): c.1953G> A (p.Trp651Ter) single nucleotide variant Pathogenic rs111033547 GRCh37 Chromosome 6, 116441326: 116441326
4 COL10A1 COL10A1, 13-BP DEL, NT1856 deletion Pathogenic
5 COL10A1 NM_000493.3(COL10A1): c.1792T> G (p.Tyr598Asp) single nucleotide variant Pathogenic rs111033544 GRCh37 Chromosome 6, 116441487: 116441487
6 COL10A1 NM_000493.3(COL10A1): c.1792T> G (p.Tyr598Asp) single nucleotide variant Pathogenic rs111033544 GRCh38 Chromosome 6, 116120324: 116120324
7 COL10A1 NM_000493.3(COL10A1): c.1841T> C (p.Leu614Pro) single nucleotide variant Pathogenic rs111033545 GRCh37 Chromosome 6, 116441438: 116441438
8 COL10A1 NM_000493.3(COL10A1): c.1841T> C (p.Leu614Pro) single nucleotide variant Pathogenic rs111033545 GRCh38 Chromosome 6, 116120275: 116120275
9 COL10A1 NM_000493.3(COL10A1): c.1771T> C (p.Cys591Arg) single nucleotide variant Pathogenic rs111033546 GRCh37 Chromosome 6, 116441508: 116441508
10 COL10A1 NM_000493.3(COL10A1): c.1771T> C (p.Cys591Arg) single nucleotide variant Pathogenic rs111033546 GRCh38 Chromosome 6, 116120345: 116120345
11 COL10A1 COL10A1, 1-BP DEL, 1856C deletion Pathogenic
12 COL10A1 COL10A1, 2-BP DEL, FS665TER deletion Pathogenic
13 COL10A1 COL10A1, 10-BP DEL, NT1867 deletion Pathogenic
14 COL10A1 NM_000493.4(COL10A1): c.1858_1859del (p.Pro620Cysfs) deletion Pathogenic GRCh38 Chromosome 6, 116120257: 116120258
15 COL10A1 NM_000493.4(COL10A1): c.1858_1859del (p.Pro620Cysfs) deletion Pathogenic GRCh37 Chromosome 6, 116441420: 116441421
16 COL10A1 NM_000493.3(COL10A1): c.1953G> A (p.Trp651Ter) single nucleotide variant Pathogenic rs111033547 GRCh38 Chromosome 6, 116120163: 116120163
17 COL10A1 NM_000493.3(COL10A1): c.1951T> C (p.Trp651Arg) single nucleotide variant Pathogenic rs111033549 GRCh37 Chromosome 6, 116441328: 116441328
18 COL10A1 NM_000493.3(COL10A1): c.1951T> C (p.Trp651Arg) single nucleotide variant Pathogenic rs111033549 GRCh38 Chromosome 6, 116120165: 116120165
19 COL10A1 NM_000493.3(COL10A1): c.52G> A (p.Gly18Arg) single nucleotide variant Pathogenic rs111033550 GRCh37 Chromosome 6, 116446604: 116446604
20 COL10A1 NM_000493.3(COL10A1): c.52G> A (p.Gly18Arg) single nucleotide variant Pathogenic rs111033550 GRCh38 Chromosome 6, 116125441: 116125441
21 COL10A1 NM_000493.3(COL10A1): c.53G> A (p.Gly18Glu) single nucleotide variant Pathogenic rs111033551 GRCh37 Chromosome 6, 116446603: 116446603
22 COL10A1 NM_000493.3(COL10A1): c.53G> A (p.Gly18Glu) single nucleotide variant Pathogenic rs111033551 GRCh38 Chromosome 6, 116125440: 116125440
23 COL10A1 NM_000493.3(COL10A1): c.2011T> C (p.Ser671Pro) single nucleotide variant Pathogenic rs111033552 GRCh37 Chromosome 6, 116441268: 116441268
24 COL10A1 NM_000493.3(COL10A1): c.2011T> C (p.Ser671Pro) single nucleotide variant Pathogenic rs111033552 GRCh38 Chromosome 6, 116120105: 116120105
25 COL10A1 NM_000493.3(COL10A1): c.1896C> A (p.Tyr632Ter) single nucleotide variant Pathogenic rs111033548 GRCh37 Chromosome 6, 116441383: 116441383
26 COL10A1 NM_000493.3(COL10A1): c.1896C> A (p.Tyr632Ter) single nucleotide variant Pathogenic rs111033548 GRCh38 Chromosome 6, 116120220: 116120220
27 COL10A1 NM_000493.3(COL10A1): c.1784G> A (p.Gly595Glu) single nucleotide variant Pathogenic rs111033553 GRCh37 Chromosome 6, 116441495: 116441495
28 COL10A1 NM_000493.3(COL10A1): c.1784G> A (p.Gly595Glu) single nucleotide variant Pathogenic rs111033553 GRCh38 Chromosome 6, 116120332: 116120332
29 COL10A1 NM_000493.3(COL10A1): c.1790A> G (p.Tyr597Cys) single nucleotide variant Pathogenic rs111033554 GRCh37 Chromosome 6, 116441489: 116441489
30 COL10A1 NM_000493.3(COL10A1): c.1790A> G (p.Tyr597Cys) single nucleotide variant Pathogenic rs111033554 GRCh38 Chromosome 6, 116120326: 116120326
31 COL10A1 NM_000493.3(COL10A1): c.1798T> C (p.Ser600Pro) single nucleotide variant Pathogenic rs111033555 GRCh37 Chromosome 6, 116441481: 116441481
32 COL10A1 NM_000493.3(COL10A1): c.1798T> C (p.Ser600Pro) single nucleotide variant Pathogenic rs111033555 GRCh38 Chromosome 6, 116120318: 116120318
33 COL10A1 NM_000493.3(COL10A1): c.1832G> A (p.Trp611Ter) single nucleotide variant Pathogenic rs111033556 GRCh37 Chromosome 6, 116441447: 116441447
34 COL10A1 NM_000493.3(COL10A1): c.1832G> A (p.Trp611Ter) single nucleotide variant Pathogenic rs111033556 GRCh38 Chromosome 6, 116120284: 116120284
35 COL10A1 COL10A1, TYR663TER single nucleotide variant Pathogenic
36 COL10A1 NM_000493.3(COL10A1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs1403393545 GRCh38 Chromosome 6, 116121067: 116121067
37 COL10A1 NM_000493.3(COL10A1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs1403393545 GRCh37 Chromosome 6, 116442230: 116442230

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 CEBPB GADD45B RUNX2
2
Show member pathways
11.67 COL10A1 COMP LOX MATN3 SERPINH1
3
Show member pathways
11.03 CEBPB XBP1
4 10.94 COL10A1 RUNX2 SERPINH1
5 10.87 ATF6 CEBPB
6 10.62 ATF6 XBP1

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 space GO:0005615 9.73 COL10A1 COMP LOX MANF MATN3 SERPINH1
2 extracellular matrix GO:0031012 9.46 COL10A1 COMP LOX MATN3
3 endoplasmic reticulum lumen GO:0005788 9.26 COL10A1 MANF MATN3 SERPINH1
4 collagen trimer GO:0005581 8.8 COL10A1 LOX SERPINH1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 ATF6 CEBPB DR1 RUNX2 XBP1
2 extracellular matrix organization GO:0030198 9.54 COL10A1 COMP MATN3
3 collagen fibril organization GO:0030199 9.46 LOX SERPINH1
4 endoplasmic reticulum unfolded protein response GO:0030968 9.43 ATF6 XBP1
5 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.32 CEBPB XBP1
6 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.26 ATF6 CEBPB
7 skeletal system development GO:0001501 9.26 COL10A1 COMP MATN3 RUNX2
8 ATF6-mediated unfolded protein response GO:0036500 9.16 ATF6 XBP1
9 response to unfolded protein GO:0006986 8.92 ATF6 MANF SERPINH1 XBP1

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

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.46 ATF6 CEBPB DR1 XBP1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 ATF6 CEBPB RUNX2 XBP1
3 extracellular matrix structural constituent GO:0005201 8.8 COL10A1 COMP MATN3

Sources for Metaphyseal Chondrodysplasia, Schmid Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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