MCID: MTP025
MIFTS: 43

Metaphyseal Chondrodysplasia, Schmid Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 53 73
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 73
Schmid Type Metaphyseal Chondrodysplasia 75
Schmid Type Metaphyseal Dysplasia 12
Smcd 75

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:

OMIM 57 156500
Disease Ontology 12 DOID:0080021
Orphanet 59 ORPHA174
UMLS via Orphanet 74 C0265289
MESH via Orphanet 45 C537352
ICD10 via Orphanet 34 Q78.5
MedGen 42 C0265289

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 malonyl-coa decarboxylase deficiency. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and Transcriptional misregulation in cancer. Affiliated tissues include bone, and related phenotypes are micrognathia and hearing impairment

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 : 75 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.

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

Wikipedia : 76 Schmid metaphyseal chondrodysplasia is a type of chondrodysplasia associated with a deficiency of... more...

Related Diseases for Metaphyseal Chondrodysplasia, Schmid Type

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

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

MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 ATF6 CEBPB COL10A1 GADD45B MANF MATN3

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 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:

# Title Authors Year
1
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. ( 3281118 )
1988
2
Metaphyseal chondrodysplasia, Schmid type. A defect of ultrastructural metabolism: case report. ( 7380864 )
1980
3
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:

75 (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
18 COL10A1 p.Ser671Pro VAR_023193 rs111033552

ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

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

Expression for Metaphyseal Chondrodysplasia, Schmid Type

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

Pathways for Metaphyseal Chondrodysplasia, Schmid Type

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 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 extracellular matrix organization GO:0030198 9.54 COL10A1 LOX MATN3
2 cellular response to amino acid stimulus GO:0071230 9.48 CEBPB XBP1
3 positive regulation of fat cell differentiation GO:0045600 9.46 CEBPB XBP1
4 endoplasmic reticulum unfolded protein response GO:0030968 9.43 ATF6 XBP1
5 skeletal system development GO:0001501 9.43 COL10A1 MATN3 RUNX2
6 collagen fibril organization GO:0030199 9.4 LOX SERPINH1
7 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.32 CEBPB XBP1
8 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.16 ATF6 CEBPB
9 ATF6-mediated unfolded protein response GO:0036500 8.96 ATF6 XBP1
10 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 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.33 ATF6 CEBPB RUNX2
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.13 ATF6 CEBPB XBP1
3 protein heterodimerization activity GO:0046982 8.92 ATF6 CEBPB DR1 XBP1

Sources for Metaphyseal Chondrodysplasia, Schmid Type

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17 ExPASy
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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