MCDS
MCID: MTP025
MIFTS: 55

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 58 29 13 54 6
Metaphyseal Chondrodysplasia Schmid Type 74 20 71
Schmid Metaphyseal Chondrodysplasia 12 25 15
Mcds 57 25 20
Spondylometaphyseal Dysplasia, Japanese Type 57
Japanese Type Spondylometaphyseal Dysplasia 12
Chondrodysplasia, Metaphyseal, Schmid Type 39
Corneal Dystrophy, Subepithelial Mucinous 71
Metaphyseal Chondrodysplasia Type Schmid 25
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®:

57 (Updated 05-Mar-2021)
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:

25
Penetrance Penetrance approaches 100%; however, there is wide inter- and intrafamilial phenotypic variation. males and females are equally represented in the case literature. normal stature has been reported, but radiographic features are usually still present. age-dependent phenotypic manifestations are suggested by apparent reduction in hand and spine features with age [savarirayan et al 2000, elliott et al 2005].

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080021
OMIM® 57 156500
MESH via Orphanet 45 C537352
ICD10 via Orphanet 33 Q78.5
UMLS via Orphanet 72 C0265289
Orphanet 58 ORPHA174
MedGen 41 C0265289
UMLS 71 C0265289 C2748503

Summaries for Metaphyseal Chondrodysplasia, Schmid Type

GARD : 20 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 Viral mRNA Translation and Gene Expression. The drugs Copper and Etonogestrel have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and breast, and related phenotypes are waddling gait and coxa vara

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) (Updated 05-Mar-2021)

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

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

GeneReviews: NBK547823

Related Diseases for Metaphyseal Chondrodysplasia, Schmid Type

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 31.7 DR1 CRYAA COL15A1 COL10A1
2 cartilage disease 30.3 MATN1 COL10A1
3 spondylometaphyseal dysplasia, algerian type 11.4
4 metaphyseal dysplasia, spahr type 11.4
5 systemic mastocytosis 11.1
6 skeletal dysplasias 10.4
7 coxa vara 10.4
8 spondyloepimetaphyseal dysplasia, strudwick type 10.4
9 cartilage-hair hypoplasia 10.3
10 factor vii deficiency 10.2
11 scoliosis 10.2
12 rickets 10.2
13 47,xyy 10.2
14 dwarfism 10.2
15 hereditary hypophosphatemic rickets 10.2
16 interstitial keratitis 10.2 CRYAA COL8A2
17 odontochondrodysplasia 10.2
18 lipoid congenital adrenal hyperplasia 10.2
19 metaphyseal dysplasia without hypotrichosis 10.2
20 alacrima, achalasia, and mental retardation syndrome 10.2
21 metaphyseal dysplasia 10.2
22 epithelial and subepithelial dystrophy 10.2 COL8A2 COL10A1
23 ullrich congenital muscular dystrophy 1 10.1 UPF3A SMG8 CRYAA
24 cortical dysplasia, complex, with other brain malformations 10 10.0
25 epilepsy 10.0
26 transient bullous dermolysis of the newborn 10.0 MATN1 DR1
27 stickler syndrome 10.0 CRYAA COL15A1 COL10A1
28 achondrogenesis, type ii 9.9 MATN1 COL10A1
29 thrombocytopenia-absent radius syndrome 9.9 UPF3A UPF2 EIF4A3
30 tuberous sclerosis 1 9.9
31 schizencephaly 9.9
32 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
33 lissencephaly 9.9
34 tuberous sclerosis 9.9
35 polymicrogyria 9.9
36 hemimegalencephaly 9.9
37 pachygyria 9.9
38 seizure disorder 9.9
39 dihydropyrimidine dehydrogenase deficiency 9.9 MAGOHB MAGOH
40 pancreatic adenosquamous carcinoma 9.8 UPF3B UPF3A UPF2 SMG9

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



Diseases related to Metaphyseal Chondrodysplasia, Schmid Type

Symptoms & Phenotypes for Metaphyseal Chondrodysplasia, Schmid Type

Human phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 waddling gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002515
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 thick growth plates 58 31 hallmark (90%) Very frequent (99-80%) HP:0025369
5 distal femoral metaphyseal abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0030299
6 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
7 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
8 disproportionate short-limb short stature 58 31 frequent (33%) Frequent (79-30%) HP:0008873
9 femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002980
10 anterior rib cupping 58 31 frequent (33%) Frequent (79-30%) HP:0000907
11 flared metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0003015
12 proximal femoral metaphyseal irregularity 58 31 frequent (33%) Frequent (79-30%) HP:0003411
13 metaphyseal cupping of metacarpals 58 31 frequent (33%) Frequent (79-30%) HP:0006028
14 short tubular bones of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0001248
15 broad proximal phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009852
16 widened proximal tibial metaphyses 58 31 frequent (33%) Frequent (79-30%) HP:0005028
17 abnormalities of the metaphyses of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0005923
18 metaphyseal cupping of proximal phalanges 58 31 frequent (33%) Frequent (79-30%) HP:0006208
19 osteosclerosis of ribs 58 31 frequent (33%) Frequent (79-30%) HP:0006634
20 distal femoral metaphyseal irregularity 58 31 frequent (33%) Frequent (79-30%) HP:0045079
21 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
22 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
23 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
24 irregular vertebral endplates 58 31 occasional (7.5%) Occasional (29-5%) HP:0003301
25 lumbar hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002938
26 radial metaphyseal irregularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0004019
27 ulnar metaphyseal irregularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0004042
28 proximal femoral metaphyseal abnormality 58 31 Very frequent (99-80%) HP:0006431
29 abnormal vertebral morphology 58 Occasional (29-5%)
30 short distal phalanx of finger 31 HP:0009882
31 short long bone 58 Frequent (79-30%)
32 short middle phalanx of finger 31 HP:0005819
33 mild short stature 31 HP:0003502
34 metaphyseal chondrodysplasia 31 HP:0005871
35 metaphyseal cupping 58 Very frequent (99-80%)
36 metaphyseal irregularity 58 Very frequent (99-80%)
37 bowing of the legs 58 Occasional (29-5%)
38 irregular acetabular roof 31 HP:0008833
39 broad middle phalanx of finger 31 HP:0009844
40 enlargement of the proximal femoral epiphysis 31 HP:0003371
41 distal tibial bowing 31 HP:0006414

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Schmid Type

Drugs for Metaphyseal Chondrodysplasia, Schmid Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved, Investigational Phase 4 7440-50-8 27099
2
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
3
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
4 Nutrients Phase 4
5 Trace Elements Phase 4
6 Contraceptives, Oral Phase 4
7 Contraceptive Agents Phase 4
8 Copper Supplement Phase 4
9 Micronutrients Phase 4
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
11
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
12
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
13
Chlorambucil Approved Phase 3 305-03-3 2708
14
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
15 Anti-Inflammatory Agents Phase 3
16 Hormones Phase 3
17 Alkylating Agents Phase 3
18 Immunosuppressive Agents Phase 3
19 Hormone Antagonists Phase 3
20 Antimetabolites Phase 3
21 glucocorticoids Phase 3
22 Analgesics Phase 3
23 Antineoplastic Agents, Hormonal Phase 3
24 Immunologic Factors Phase 3
25 Antiemetics Phase 3
26 Gastrointestinal Agents Phase 3
27
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
28
tannic acid Approved 1401-55-4
29
Ranolazine Approved, Investigational 95635-55-5, 142387-99-3 56959
30
Technetium tc-99m tetrofosmin Approved 127455-27-0
31 Diuretics, Potassium Sparing
32 Sodium Channel Blockers
33 Radiopharmaceuticals

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acceptability and Continuation Rate of Implanon in a Brazilian Public Sector Completed NCT01392157 Phase 4
2 Randomized Trial of MCD Versus FMD in Untreated Advanced Follicular Lymphoma Unknown status NCT00006250 Phase 3 chlorambucil;dexamethasone;fludarabine phosphate;mitoxantrone hydrochloride
3 Cervical Distraction Minimal Intervention Development: Translating From Basic to Clinical Studies Completed NCT01765751
4 Treatment With Ranolazine in Microvascular Coronary Dysfunction (MCD): Impact on Angina Myocardial Ischemia Completed NCT01342029 Ranolazine;Placebo
5 Mindful Construal Diaries: Can the MCD Increase Mindfulness and Mindful Eating in Bariatric Surgery Patients Completed NCT03822481
6 Nephrotic Syndrome Study Network Under the Rare Diseases Clinical Research Network Recruiting NCT01209000
7 Cardiac Autonomic Function in Women With Microvascular Coronary Dysfunction Active, not recruiting NCT01568177
8 A Study to Characterize the Genetic, Biomarker, and Clinical Profile of Patients With Focal Segmental Glomerulosclerosis (FSGS), Treatment-Resistant Minimal Change Disease (TR-MCD), and Diabetic Nephropathy (DN) Suspended NCT04235621

Search NIH Clinical Center for Metaphyseal Chondrodysplasia, Schmid Type

Genetic Tests for Metaphyseal Chondrodysplasia, Schmid Type

Genetic tests related to Metaphyseal Chondrodysplasia, Schmid Type:

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

Anatomical Context for Metaphyseal Chondrodysplasia, Schmid Type

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

40
Bone, Brain, Breast, Cortex, Bone Marrow, Heart, Kidney

Publications for Metaphyseal Chondrodysplasia, Schmid Type

Articles related to Metaphyseal Chondrodysplasia, Schmid Type:

(show top 50) (show all 344)
# 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. 6 57 61 54
17403716 2007
2
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. 6 25 57
12554676 2003
3
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 6 57 25
9837818 1998
4
Japanese type of spondylo-metaphyseal dysplasia. 25 6 57
7936797 1994
5
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. 25 57 61
16088909 2005
6
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. 6 57
8220429 1993
7
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. 57 25 61
3281118 1988
8
Hand involvement in Schmid metaphyseal chondrodysplasia. 57 25
15578582 2005
9
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. 25 57
10929364 2000
10
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. 25 6
9525992 1998
11
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. 57 61 54
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. 61 6
8304336 1994
14
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. 25 61
28830906 2018
15
Targeted induction of endoplasmic reticulum stress induces cartilage pathology. 25 61
19834559 2009
16
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
17
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 6
9067753 1997
18
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
19
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
20
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 6
7607655 1995
21
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. 6
7749409 1995
22
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. 6
8012364 1994
23
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. 6
8004099 1994
24
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. 57
8361538 1993
25
Metaphyseal dysotosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes. 57
4349945 1973
26
Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect. 57
4265987 1973
27
THE NATURAL HISTORY OF METAPHYSEAL DYSOSTOSIS. 57
14279845 1965
28
ROENTGEN OBSERVATIONS IN FAMILIAL METAPHYSEAL DYSOSTOSIS. 57
14227699 1964
29
METAPHYSIAL DYSOSTOSIS, TYPE SCHMID. 57
14223656 1964
30
Familial bone disease resembling rickets (hereditary metaphysial dysostosis). 57
13917203 1962
31
Metaphyseal dysostosis: questionably a form of vitamin D-resistant rickets. 57
14485788 1962
32
Metaphyseal dysostosis. 57
13719292 1960
33
Familial metaphysial dysplasia. 57
13513655 1958
34
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. 25
30027601 2018
35
A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family. 25
29234170 2018
36
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
37
Timing, rates and spectra of human germline mutation. 25
26656846 2016
38
Nosology and classification of genetic skeletal disorders: 2015 revision. 25
26394607 2015
39
Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene. 25
25678758 2015
40
ClinVar: public archive of relationships among sequence variation and human phenotype. 25
24234437 2014
41
An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. 25
20522742 2010
42
Schmid type metaphyseal chondrodysplasia. 25
16424569 2005
43
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. 25
15880705 2005
44
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. 25
15695517 2005
45
Double heterozygosity in bone growth disorders: four new observations and review. 25
12923858 2003
46
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
47
Effects on the structure and properties of native corn starch modified by enzymatic debranching (ED), microwave assisted esterification with citric acid (MCAE) and by the dual ED/MCAE treatment. 61
33418038 2021
48
Reference jitter values for the sternocleidomastoid muscle with concentric needle electrodes. 61
33067804 2021
49
Study of the effect of band gap and photoluminescence on biological properties of polyaniline/CdS QD nanocomposites based on natural polymer. 61
33479253 2021
50
Sources of cannabis among young adults and associations with cannabis-related outcomes. 61
33038599 2020

Variations for Metaphyseal Chondrodysplasia, Schmid Type

ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

6 (show top 50) (show all 103)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL10A1 COL10A1, 13-BP DEL, NT1856 Deletion Pathogenic 17464
2 NT5DC1 NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp) SNV Pathogenic 17465 rs111033544 6:116441487-116441487 6:116120324-116120324
3 NT5DC1 NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro) SNV Pathogenic 17466 rs111033545 6:116441438-116441438 6:116120275-116120275
4 NT5DC1 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, 1856C Deletion Pathogenic 17468
6 COL10A1 COL10A1, 2-BP DEL, FS665TER Deletion Pathogenic 17469
7 COL10A1 COL10A1, 10-BP DEL, NT1867 Deletion Pathogenic 17470
8 NT5DC1 NM_000493.4(COL10A1):c.1858_1859del (p.Pro620fs) Deletion Pathogenic 17471 rs1562122372 6:116441420-116441421 6:116120257-116120258
9 NT5DC1 NM_000493.4(COL10A1):c.1884C>G (p.Tyr628Ter) SNV Pathogenic 17472 rs111033543 6:116441395-116441395 6:116120232-116120232
10 NT5DC1 NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter) SNV Pathogenic 17473 rs111033547 6:116441326-116441326 6:116120163-116120163
11 NT5DC1 NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg) SNV Pathogenic 17474 rs111033549 6:116441328-116441328 6:116120165-116120165
12 NT5DC1 NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg) SNV Pathogenic 17475 rs111033550 6:116446604-116446604 6:116125441-116125441
13 NT5DC1 NM_000493.4(COL10A1):c.53G>A (p.Gly18Glu) SNV Pathogenic 17476 rs111033551 6:116446603-116446603 6:116125440-116125440
14 NT5DC1 NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter) SNV Pathogenic 17478 rs111033548 6:116441383-116441383 6:116120220-116120220
15 NT5DC1 NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu) SNV Pathogenic 17479 rs111033553 6:116441495-116441495 6:116120332-116120332
16 NT5DC1 NM_000493.4(COL10A1):c.1790A>G (p.Tyr597Cys) SNV Pathogenic 17480 rs111033554 6:116441489-116441489 6:116120326-116120326
17 NT5DC1 NM_000493.4(COL10A1):c.1798T>C (p.Ser600Pro) SNV Pathogenic 17481 rs111033555 6:116441481-116441481 6:116120318-116120318
18 NT5DC1 NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter) SNV Pathogenic 17482 rs111033556 6:116441447-116441447 6:116120284-116120284
19 COL10A1 COL10A1, TYR663TER SNV Pathogenic 29632
20 NT5DC1 NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) SNV Likely pathogenic 17477 rs111033552 6:116441268-116441268 6:116120105-116120105
21 NT5DC1 NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly) SNV Likely pathogenic 800885 rs111033546 6:116441508-116441508 6:116120345-116120345
22 NT5DC1 NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del) Deletion Likely pathogenic 802257 rs1582811858 6:116441326-116441331 6:116120163-116120168
23 NT5DC1 NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs) Duplication Likely pathogenic 976106 6:116441322-116441323 6:116120159-116120160
24 NT5DC1 NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) SNV Conflicting interpretations of pathogenicity 907221 6:116442507-116442507 6:116121344-116121344
25 NT5DC1 NM_000493.4(COL10A1):c.1267C>T (p.Pro423Ser) SNV Uncertain significance 547009 rs759211032 6:116442012-116442012 6:116120849-116120849
26 NT5DC1 NM_000493.4(COL10A1):c.80T>G (p.Met27Arg) SNV Uncertain significance 906276 6:116446576-116446576 6:116125413-116125413
27 NT5DC1 NM_000493.4(COL10A1):c.60T>C (p.Phe20=) SNV Uncertain significance 906277 6:116446596-116446596 6:116125433-116125433
28 NT5DC1 NM_000493.4(COL10A1):c.*428G>A SNV Uncertain significance 907159 6:116440808-116440808 6:116119645-116119645
29 NT5DC1 NM_000493.4(COL10A1):c.*324A>G SNV Uncertain significance 907160 6:116440912-116440912 6:116119749-116119749
30 NT5DC1 NM_000493.4(COL10A1):c.*292A>G SNV Uncertain significance 907161 6:116440944-116440944 6:116119781-116119781
31 NT5DC1 NM_000493.4(COL10A1):c.1016C>T (p.Pro339Leu) SNV Uncertain significance 281436 rs373185008 6:116442263-116442263 6:116121100-116121100
32 NT5DC1 NM_000493.4(COL10A1):c.1705A>G (p.Ile569Val) SNV Uncertain significance 931658 6:116441574-116441574 6:116120411-116120411
33 NT5DC1 NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser) SNV Uncertain significance 730824 rs1247147548 6:116442135-116442135 6:116120972-116120972
34 NT5DC1 NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp) SNV Uncertain significance 548529 rs1403393545 6:116442230-116442230 6:116121067-116121067
35 NT5DC1 NM_000493.4(COL10A1):c.982G>A (p.Ala328Thr) SNV Uncertain significance 355100 rs762743318 6:116442297-116442297 6:116121134-116121134
36 NT5DC1 NM_000493.4(COL10A1):c.*511T>C SNV Uncertain significance 355076 rs886060989 6:116440725-116440725 6:116119562-116119562
37 NT5DC1 NM_000493.4(COL10A1):c.430C>T (p.Pro144Ser) SNV Uncertain significance 355106 rs752540751 6:116442849-116442849 6:116121686-116121686
38 NT5DC1 NM_000493.4(COL10A1):c.71G>A (p.Arg24Gln) SNV Uncertain significance 355114 rs766938257 6:116446585-116446585 6:116125422-116125422
39 NT5DC1 NM_000493.4(COL10A1):c.1328G>A (p.Gly443Asp) SNV Uncertain significance 355095 rs539549311 6:116441951-116441951 6:116120788-116120788
40 NT5DC1 NM_000493.4(COL10A1):c.-16+7G>A SNV Uncertain significance 355116 rs768097903 6:116447209-116447209 6:116126046-116126046
41 NT5DC1 NM_000493.4(COL10A1):c.460G>A (p.Val154Met) SNV Uncertain significance 355104 rs886060993 6:116442819-116442819 6:116121656-116121656
42 NT5DC1 NM_000493.4(COL10A1):c.*318A>T SNV Uncertain significance 355080 rs566235360 6:116440918-116440918 6:116119755-116119755
43 NT5DC1 NM_000493.4(COL10A1):c.212G>A (p.Arg71Gln) SNV Uncertain significance 355110 rs199761751 6:116443067-116443067 6:116121904-116121904
44 NT5DC1 NM_000493.4(COL10A1):c.1073C>T (p.Pro358Leu) SNV Uncertain significance 355099 rs372281591 6:116442206-116442206 6:116121043-116121043
45 NT5DC1 NM_000493.4(COL10A1):c.1255G>A (p.Gly419Ser) SNV Uncertain significance 355096 rs369941065 6:116442024-116442024 6:116120861-116120861
46 NT5DC1 NM_000493.4(COL10A1):c.1420C>T (p.Pro474Ser) SNV Uncertain significance 355093 rs886060991 6:116441859-116441859 6:116120696-116120696
47 NT5DC1 NM_000493.4(COL10A1):c.633A>G (p.Thr211=) SNV Uncertain significance 355102 rs886060992 6:116442646-116442646 6:116121483-116121483
48 NT5DC1 NM_000493.4(COL10A1):c.*674A>G SNV Uncertain significance 355073 rs886060988 6:116440562-116440562 6:116119399-116119399
49 NT5DC1 NM_000493.4(COL10A1):c.*185T>G SNV Uncertain significance 903803 6:116441051-116441051 6:116119888-116119888
50 NT5DC1 NM_000493.4(COL10A1):c.*137C>T SNV Uncertain significance 903805 6:116441099-116441099 6:116119936-116119936

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

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

Expression for Metaphyseal Chondrodysplasia, Schmid Type

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

Pathways for Metaphyseal Chondrodysplasia, Schmid Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 UPF3B UPF3A UPF2 SMG9 SMG8 RNPS1
2
Show member pathways
13.45 UPF3B UPF3A UPF2 SMG9 SMG8 RNPS1
3
Show member pathways
12.36 MATN1 COL8A2 COL15A1 COL10A1
4
Show member pathways
11.97 UPF3B RNPS1 MAGOHB MAGOH EIF4A3
5
Show member pathways
11.77 UPF3B RNPS1 MAGOHB MAGOH EIF4A3
6 11.77 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
7 11.16 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH

GO Terms for Metaphyseal Chondrodysplasia, Schmid Type

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.67 MATN1 COL8A2 COL15A1 COL10A1
2 extracellular matrix GO:0031012 9.62 MATN1 COL8A2 COL15A1 COL10A1
3 spliceosomal complex GO:0005681 9.58 MAGOHB MAGOH EIF4A3
4 collagen trimer GO:0005581 9.43 COL8A2 COL15A1 COL10A1
5 exon-exon junction complex GO:0035145 9.17 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
6 U2-type catalytic step 1 spliceosome GO:0071006 9.16 MAGOHB EIF4A3
7 catalytic step 2 spliceosome GO:0071013 9.13 MAGOHB MAGOH EIF4A3

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.78 RNPS1 MAGOHB MAGOH EIF4A3
2 mRNA splicing, via spliceosome GO:0000398 9.77 UPF3B RNPS1 MAGOHB MAGOH EIF4A3
3 RNA splicing GO:0008380 9.76 RNPS1 MAGOHB MAGOH EIF4A3
4 extracellular matrix organization GO:0030198 9.73 MATN1 COL8A2 COL15A1 COL10A1
5 mRNA transport GO:0051028 9.72 UPF3B UPF3A MAGOHB MAGOH EIF4A3
6 mRNA 3'-end processing GO:0031124 9.65 UPF3B RNPS1 MAGOHB MAGOH EIF4A3
7 positive regulation of translation GO:0045727 9.58 UPF3B UPF3A EIF4A3
8 RNA export from nucleus GO:0006405 9.55 UPF3B RNPS1 MAGOHB MAGOH EIF4A3
9 mRNA export from nucleus GO:0006406 9.43 UPF3B UPF2 RNPS1 MAGOHB MAGOH EIF4A3
10 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.32 UPF3B UPF3A UPF2 SMG9 SMG8 RNPS1

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 9.7 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
2 structural constituent of nuclear pore GO:0017056 9.32 UPF3B UPF3A
3 telomeric DNA binding GO:0042162 9.26 UPF3A UPF2
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL8A2 COL15A1 COL10A1
5 extracellular matrix structural constituent GO:0005201 8.92 MATN1 COL8A2 COL15A1 COL10A1

Sources for Metaphyseal Chondrodysplasia, Schmid Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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