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MCDS
MCID: MTP025
MIFTS: 50

Metaphyseal Chondrodysplasia, Schmid Type (MCDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Metaphyseal Chondrodysplasia, Schmid Type

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MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Schmid Type:

Name: Metaphyseal Chondrodysplasia, Schmid Type 57 58 28 53 5
Metaphyseal Chondrodysplasia Schmid Type 19 75 71
Schmid Metaphyseal Chondrodysplasia 11 24 14
Mcds 57 24 19
Spondylometaphyseal Dysplasia, Japanese Type 57
Japanese Type Spondylometaphyseal Dysplasia 11
Chondrodysplasia, Metaphyseal, Schmid Type 38
Corneal Dystrophy, Subepithelial Mucinous 71
Metaphyseal Chondrodysplasia Type Schmid 24
Schmid Type Metaphyseal Chondrodysplasia 73
Schmid Type Metaphyseal Dysplasia 11
Smcd 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
waddling gait, often presenting sign in second year
leg pain during childhood
hand involvement improves with age
spinal involvement improves with age


GeneReviews:

24
Penetrance Penetrance approaches 100%; however, there is wide inter- and intrafamilial phenotypic variation. males and females are equally represented in the case literature. normal stature has been reported, but radiographic features are usually still present. age-dependent phenotypic manifestations are suggested by apparent reduction in hand and spine features with age [savarirayan et al 2000, elliott et al 2005].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080021
OMIM® 57 156500
MESH via Orphanet 44 C537352
ICD10 via Orphanet 32 Q78.5
UMLS via Orphanet 72 C0265289
Orphanet 58 ORPHA174
MedGen 40 C0265289
UMLS 71 C0265289 C2748503
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Summaries for Metaphyseal Chondrodysplasia, Schmid Type

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GARD: 19 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 genetic change in one of the collagen genes known as COL10A1. The genetic change may be inherited from a parent or may happen for the first time in an affected individual. The MCDS genetic change is passed on in an autosomal dominant manner.

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 Peptide chain elongation and Regulation of expression of SLITs and ROBOs. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are waddling gait and coxa vara

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Orphanet: 58 Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

Disease Ontology: 11 A metaphyseal dysplasia that results in dwarfism and bowed legs.

Wikipedia: 75 Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of... more...

GeneReviews: NBK547823
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Related Diseases for Metaphyseal Chondrodysplasia, Schmid Type

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 32.4 DR1 CRYAA COL10A1
2 cartilage disease 30.4 MATN1 COL10A1
3 spondylometaphyseal dysplasia, algerian type 11.4
4 metaphyseal dysplasia, spahr type 11.4
5 systemic mastocytosis 11.3
6 turner syndrome 10.6
7 osteochondrodysplasia 10.6
8 coxa vara 10.4
9 spondyloepimetaphyseal dysplasia, strudwick type 10.4
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
11 cartilage-hair hypoplasia 10.4
12 factor vii deficiency 10.2
13 hypophosphatemia 10.2
14 scoliosis 10.2
15 rickets 10.2
16 henoch-schoenlein purpura 10.2
17 aortic aneurysm, familial thoracic 4 10.2
18 lipoid congenital adrenal hyperplasia 10.2
19 metaphyseal dysplasia without hypotrichosis 10.2
20 pyle disease 10.2
21 aortic aneurysm, familial thoracic 1 10.2
22 rocky mountain spotted fever 10.2
23 metaphyseal dysplasia 10.2
24 non-syndromic x-linked intellectual disability 82 10.1 UPF3B UPF3A
25 epithelial and subepithelial dystrophy 10.1 DR1 COL8A2 COL10A1
26 corneal dystrophy and perceptive deafness 10.1 CRYAA COL8A2
27 hypochondrogenesis 10.0 MATN1 COL10A1
28 achondrogenesis, type ii 10.0 MATN1 COL10A1
29 transient bullous dermolysis of the newborn 10.0 MATN1 DR1
30 mastocytosis, cutaneous 10.0
31 mastocytosis 10.0
32 tuberous sclerosis 1 9.9
33 schizencephaly 9.9
34 tuberous sclerosis 2 9.9
35 lissencephaly 9.9
36 polymicrogyria 9.9
37 visual epilepsy 9.9
38 tuberous sclerosis 9.9
39 epilepsy 9.9
40 hemimegalencephaly 9.9
41 thrombocytopenia-absent radius syndrome 9.9 UPF2 ESCO2
42 pancreatic adenosquamous carcinoma 9.2 UPF3B UPF3A UPF2 SMG9 SMG8 SMG6

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



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

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Human phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

58 30 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 waddling gait 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0002515
2 coxa vara 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0002812
3 limb undergrowth 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0009826
4 thick growth plates 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0025369
5 distal femoral metaphyseal abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0030299
6 hip dysplasia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001385
7 genu varum 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002970
8 disproportionate short-limb short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008873
9 femoral bowing 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002980
10 anterior rib cupping 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000907
11 flared metaphysis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003015
12 metaphyseal cupping of metacarpals 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006028
13 short tubular bones of the hand 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001248
14 proximal femoral metaphyseal irregularity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003411
15 broad proximal phalanges of the hand 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009852
16 widened proximal tibial metaphyses 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005028
17 metaphyseal cupping of proximal phalanges 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006208
18 osteosclerosis of ribs 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006634
19 distal femoral metaphyseal irregularity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0045079
20 abnormal hand metaphysis morphology 30 Frequent (33%) HP:0005923
21 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001513
22 arthralgia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002829
23 platyspondyly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000926
24 lumbar hyperlordosis 58 30 Very rare (1%) Occasional (29-5%)
 HP:0002938
25 irregular vertebral endplates 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003301
26 radial metaphyseal irregularity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004019
27 ulnar metaphyseal irregularity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004042
28 metaphyseal irregularity 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0003025
29 scoliosis 30 Very rare (1%) HP:0002650
30 genu valgum 30 Very rare (1%) HP:0002857
31 broad femoral neck 30 Very rare (1%) HP:0006429
32 proportionate short stature 30 Very rare (1%) HP:0003508
33 metaphyseal widening 30 Very rare (1%) HP:0003016
34 metaphyseal sclerosis 30 Very rare (1%) HP:0004979
35 enlargement of the proximal femoral epiphysis 30 Very rare (1%) HP:0003371
36 proximal femoral metaphyseal abnormality 58 30 Very frequent (99-80%)
 HP:0006431
37 abnormal vertebral morphology 58 Occasional (29-5%)
38 short distal phalanx of finger 30 HP:0009882
39 short long bone 58 Frequent (79-30%)
40 short middle phalanx of finger 30 HP:0005819
41 mild short stature 30 HP:0003502
42 metaphyseal chondrodysplasia 30 HP:0005871
43 metaphyseal cupping 58 Very frequent (99-80%)
44 bowing of the legs 58 Occasional (29-5%)
45 irregular acetabular roof 30 HP:0008833
46 broad middle phalanx of finger 30 HP:0009844
47 abnormalities of the metaphyses of the hand 58 Frequent (79-30%)
48 distal tibial bowing 30 HP:0006414

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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:
no osteoarthritic symptoms

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

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

Chest Ribs Sternum Clavicles And Scapulae:
lower rib cage flared
anterior cupping and sclerosis of ribs

Clinical features from OMIM®:

156500 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.36 COL10A1 COL8A2 CRYAA ESCO2 GADD45B MAGOH
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Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Schmid Type

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Search Clinical Trials, NIH Clinical Center for Metaphyseal Chondrodysplasia, Schmid Type

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Genetic Tests for Metaphyseal Chondrodysplasia, Schmid Type

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Genetic tests related to Metaphyseal Chondrodysplasia, Schmid Type:

# Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Schmid Type 28 COL10A1
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Anatomical Context for Metaphyseal Chondrodysplasia, Schmid Type

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Organs/tissues related to Metaphyseal Chondrodysplasia, Schmid Type:

MalaCards : Bone, Bone Marrow, Brain, Breast, Lymph Node, Temporal Lobe, Cortex
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Publications for Metaphyseal Chondrodysplasia, Schmid Type

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Articles related to Metaphyseal Chondrodysplasia, Schmid Type:

(show top 50) (show all 522)
# Title Authors PMID Year
1
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. 62 24 57 5
12554676 2003
2
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. 62 24 57 5
9837818 1998
3
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. 53 62 57 5
17403716 2007
4
Japanese type of spondylo-metaphyseal dysplasia. 24 57 5
7936797 1994
5
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. 62 57 5
8220429 1993
6
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. 62 24 57
16088909 2005
7
Hand involvement in Schmid metaphyseal chondrodysplasia. 62 24 57
15578582 2005
8
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. 62 24 57
10929364 2000
9
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. 62 24 5
9525992 1998
10
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. 62 24 57
3281118 1988
11
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. 53 62 5
10991694 2000
12
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. 53 62 57
8782043 1996
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. 62 5
9852679 1998
14
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 62 5
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. 62 5
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. 62 5
8554571 1995
17
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 62 5
7607655 1995
18
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. 62 5
7749409 1995
19
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. 62 5
8012364 1994
20
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. 62 5
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. 62 5
8304336 1994
22
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. 5
30408610 2019
23
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. 62 24
30027601 2018
24
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. 62 24
28830906 2018
25
Targeted induction of endoplasmic reticulum stress induces cartilage pathology. 62 24
19834559 2009
26
Schmid type metaphyseal chondrodysplasia. 62 24
16424569 2005
27
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. 62 24
15880705 2005
28
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. 62 24
15695517 2005
29
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. 57
8361538 1993
30
Metaphyseal dysotosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes. 57
4349945 1973
31
Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect. 57
4265987 1973
32
THE NATURAL HISTORY OF METAPHYSEAL DYSOSTOSIS. 57
14279845 1965
33
ROENTGEN OBSERVATIONS IN FAMILIAL METAPHYSEAL DYSOSTOSIS. 57
14227699 1964
34
METAPHYSIAL DYSOSTOSIS, TYPE SCHMID. 57
14223656 1964
35
Familial bone disease resembling rickets (hereditary metaphysial dysostosis). 57
13917203 1962
36
Metaphyseal dysostosis: questionably a form of vitamin D-resistant rickets. 57
14485788 1962
37
Metaphyseal dysostosis. 57
13719292 1960
38
Familial metaphysial dysplasia. 57
13513655 1958
39
A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family. 24
29234170 2018
40
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
41
Timing, rates and spectra of human germline mutation. 24
26656846 2016
42
Nosology and classification of genetic skeletal disorders: 2015 revision. 24
26394607 2015
43
Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene. 24
25678758 2015
44
ClinVar: public archive of relationships among sequence variation and human phenotype. 24
24234437 2014
45
An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. 24
20522742 2010
46
From collagen chemistry towards cell therapy - a personal journey. 53 62
17696900 2007
47
Double heterozygosity in bone growth disorders: four new observations and review. 24
12923858 2003
48
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. 53 62
9920912 1999
49
Rapamycin Cannot Reduce Seizure Susceptibility in Infantile Rats with Malformations of Cortical Development Lacking mTORC1 Activation. 62
36194361 2022
50
Thermosensitive poly(N-isopropylacrylamide)-grafted magnetic-cored dendrimers for benzene uptake. 62
35964718 2022
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Variations for Metaphyseal Chondrodysplasia, Schmid Type

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ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:

5 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp) SNV Pathogenic
 17465 rs111033544 GRCh37: 6:116441487-116441487
GRCh38: 6:116120324-116120324
2 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro) SNV Pathogenic
 17466 rs111033545 GRCh37: 6:116441438-116441438
GRCh38: 6:116120275-116120275
3 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1858_1859del (p.Pro620fs) DEL Pathogenic
 17471 rs1562122372 GRCh37: 6:116441420-116441421
GRCh38: 6:116120257-116120258
4 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1884C>G (p.Tyr628Ter) SNV Pathogenic
 17472 rs111033543 GRCh37: 6:116441395-116441395
GRCh38: 6:116120232-116120232
5 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter) SNV Pathogenic
 17473 rs111033547 GRCh37: 6:116441326-116441326
GRCh38: 6:116120163-116120163
6 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg) SNV Pathogenic
 17474 rs111033549 GRCh37: 6:116441328-116441328
GRCh38: 6:116120165-116120165
7 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg) SNV Pathogenic
 17475 rs111033550 GRCh37: 6:116446604-116446604
GRCh38: 6:116125441-116125441
8 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter) SNV Pathogenic
 17478 rs111033548 GRCh37: 6:116441383-116441383
GRCh38: 6:116120220-116120220
9 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu) SNV Pathogenic
 17479 rs111033553 GRCh37: 6:116441495-116441495
GRCh38: 6:116120332-116120332
10 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1790A>G (p.Tyr597Cys) SNV Pathogenic
 17480 rs111033554 GRCh37: 6:116441489-116441489
GRCh38: 6:116120326-116120326
11 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter) SNV Pathogenic
 17482 rs111033556 GRCh37: 6:116441447-116441447
GRCh38: 6:116120284-116120284
12 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1989C>G (p.Tyr663Ter) SNV Pathogenic
 29632 GRCh37: 6:116441290-116441290
GRCh38: 6:116120127-116120127
13 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.211C>T (p.Arg71Ter) SNV Pathogenic
 1319412 GRCh37: 6:116443068-116443068
GRCh38: 6:116121905-116121905
14 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1951_1952dup (p.Trp651fs) MICROSAT Pathogenic
 1679893 GRCh37: 6:116441326-116441327
GRCh38: 6:116120163-116120164
15 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.53G>A (p.Gly18Glu) SNV Pathogenic
 17476 rs111033551 GRCh37: 6:116446603-116446603
GRCh38: 6:116125440-116125440
16 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1853_1866del (p.Gly618fs) DEL Pathogenic
 1683460 GRCh37: 6:116441413-116441426
GRCh38: 6:116120250-116120263
17 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1772G>T (p.Cys591Phe) SNV Pathogenic
 1683461 GRCh37: 6:116441507-116441507
GRCh38: 6:116120344-116120344
18 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1859del (p.Pro620fs) DEL Pathogenic
 17468 GRCh37: 6:116441420-116441420
GRCh38: 6:116120257-116120257
19 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1867_1876del (p.Tyr623fs) DEL Pathogenic
 1427331 GRCh37: 6:116441403-116441412
GRCh38: 6:116120240-116120249
20 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1771T>C (p.Cys591Arg) SNV Pathogenic
 17467 rs111033546 GRCh37: 6:116441508-116441508
GRCh38: 6:116120345-116120345
21 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1798T>C (p.Ser600Pro) SNV Pathogenic
 17481 rs111033555 GRCh37: 6:116441481-116441481
GRCh38: 6:116120318-116120318
22 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter) SNV Pathogenic
 1062777 GRCh37: 6:116441290-116441290
GRCh38: 6:116120127-116120127
23 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1994_1995del (p.Ser664_Ser665insTer) MICROSAT Pathogenic
 1047790 rs1779064401 GRCh37: 6:116441284-116441285
GRCh38: 6:116120121-116120122
24 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1900del (p.Asp634fs) DEL Pathogenic
 1704250 GRCh37: 6:116441379-116441379
GRCh38: 6:116120216-116120216
25 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1857_1869del (p.Val621fs) DEL Pathogenic
 17464 GRCh37: 6:116441410-116441422
GRCh38: 6:116120247-116120259
26 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1833G>A (p.Trp611Ter) SNV Pathogenic
 1723872 GRCh37: 6:116441446-116441446
GRCh38: 6:116120283-116120283
27 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg) SNV Likely Pathogenic
 1679882 GRCh37: 6:116441324-116441324
GRCh38: 6:116120161-116120161
28 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr) SNV Likely Pathogenic
 1685266 GRCh37: 6:116441507-116441507
GRCh38: 6:116120344-116120344
29 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) SNV Likely Pathogenic
 17477 rs111033552 GRCh37: 6:116441268-116441268
GRCh38: 6:116120105-116120105
30 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1616_1617del (p.Leu539fs) DEL Likely Pathogenic
 1324095 GRCh37: 6:116441662-116441663
GRCh38: 6:116120499-116120500
31 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1775dup (p.Ile593fs) DUP Likely Pathogenic
 1333730 GRCh37: 6:116441503-116441504
GRCh38: 6:116120340-116120341
32 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs) DUP Likely Pathogenic
 976106 rs1779066131 GRCh37: 6:116441322-116441323
GRCh38: 6:116120159-116120160
33 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp) SNV Likely Pathogenic
 997992 rs1779072705 GRCh37: 6:116441436-116441436
GRCh38: 6:116120273-116120273
34 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly) SNV Likely Pathogenic
 800885 rs111033546 GRCh37: 6:116441508-116441508
GRCh38: 6:116120345-116120345
35 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del) DEL Likely Pathogenic
 802257 rs1582811858 GRCh37: 6:116441326-116441331
GRCh38: 6:116120163-116120168
36 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) SNV Conflicting Interpretations Of Pathogenicity
 907221 rs765628474 GRCh37: 6:116442507-116442507
GRCh38: 6:116121344-116121344
37 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp) SNV Uncertain Significance
 548529 rs1403393545 GRCh37: 6:116442230-116442230
GRCh38: 6:116121067-116121067
38 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter) SNV Uncertain Significance
 988566 rs1779066482 GRCh37: 6:116441327-116441327
GRCh38: 6:116120164-116120164
39 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.80T>G (p.Met27Arg) SNV Uncertain Significance
 906276 rs1064583 GRCh37: 6:116446576-116446576
GRCh38: 6:116125413-116125413
40 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.60T>C (p.Phe20=) SNV Uncertain Significance
 906277 rs777324834 GRCh37: 6:116446596-116446596
GRCh38: 6:116125433-116125433
41 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.*428G>A SNV Uncertain Significance
 907159 rs930178504 GRCh37: 6:116440808-116440808
GRCh38: 6:116119645-116119645
42 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.*324A>G SNV Uncertain Significance
 907160 rs922577505 GRCh37: 6:116440912-116440912
GRCh38: 6:116119749-116119749
43 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.*292A>G SNV Uncertain Significance
 907161 rs1016161969 GRCh37: 6:116440944-116440944
GRCh38: 6:116119781-116119781
44 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1016C>T (p.Pro339Leu) SNV Uncertain Significance
 281436 rs373185008 GRCh37: 6:116442263-116442263
GRCh38: 6:116121100-116121100
45 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.1705A>G (p.Ile569Val) SNV Uncertain Significance
 931658 rs1779078261 GRCh37: 6:116441574-116441574
GRCh38: 6:116120411-116120411
46 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.*185T>G SNV Uncertain Significance
 903803 rs986876434 GRCh37: 6:116441051-116441051
GRCh38: 6:116119888-116119888
47 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.*137C>T SNV Uncertain Significance
 903805 rs746478358 GRCh37: 6:116441099-116441099
GRCh38: 6:116119936-116119936
48 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.*52C>T SNV Uncertain Significance
 903806 rs1326936448 GRCh37: 6:116441184-116441184
GRCh38: 6:116120021-116120021
49 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.567G>A (p.Gly189=) SNV Uncertain Significance
 903875 rs201737018 GRCh37: 6:116442712-116442712
GRCh38: 6:116121549-116121549
50 NT5DC1, COL10A1 NM_000493.4(COL10A1):c.*1145A>G SNV Uncertain Significance
 905642 rs1779023877 GRCh37: 6:116440091-116440091
GRCh38: 6:116118928-116118928

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 rs1271742789
18 COL10A1 p.Ser671Pro VAR_023193 rs111033552

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Expression for Metaphyseal Chondrodysplasia, Schmid Type

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

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

# Super pathways Score Top Affiliating Genes
1
Peptide chain elongation 66
Show member pathways
 13.07 UPF3B UPF3A UPF2 SMG9 SMG8 SMG6
2
Regulation of expression of SLITs and ROBOs 66
Show member pathways
 12.62 UPF3B UPF3A UPF2 RNPS1 MAGOHB MAGOH
3
Processing of Capped Intron-Containing Pre-mRNA 66
Show member pathways
 12.55 UPF3B UPF3A UPF2 SMG9 SMG8 SMG6
4
Processing of Capped Intronless Pre-mRNA 66
Show member pathways
 11.92 UPF3B RNPS1 MAGOHB MAGOH
5
ECM proteoglycans 66
Show member pathways
 11.77 MATN1 COL8A2 COL10A1
6
Transport of Mature Transcript to Cytoplasm 66
Show member pathways
 11.66 UPF3B RNPS1 MAGOHB MAGOH
Sources

GO Terms for Metaphyseal Chondrodysplasia, Schmid Type

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

# Name GO ID Score Top Affiliating Genes
1 exon-exon junction complex GO:0035145 9.4 UPF3B UPF3A UPF2 SMG6 RNPS1 MAGOHB
2 exon-exon junction subcomplex mago-y14 GO:1990501 9.26 MAGOHB MAGOH

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

# Name GO ID Score Top Affiliating Genes
1 regulation of telomere maintenance via telomerase GO:0032210 9.67 SMG6 SMG5
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.66 SMG5 RNPS1 MAGOHB MAGOH DCP1A SMG6
3 mRNA export from nucleus GO:0006406 9.65 UPF2 SMG6 SMG5 MAGOHB MAGOH
4 mRNA transport GO:0051028 9.63 UPF3B UPF3A MAGOHB MAGOH
5 regulation of dephosphorylation GO:0035303 9.62 SMG6 SMG5
6 regulation of mRNA processing GO:0050684 9.58 MAGOHB MAGOH
7 regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:2000622 9.43 MAGOHB MAGOH

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

# Name GO ID Score Top Affiliating Genes
1 telomeric DNA binding GO:0042162 9.23 UPF3A UPF2 SMG6 SMG5
Sources

Sources for Metaphyseal Chondrodysplasia, Schmid Type

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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