MDST
MCID: MTP028
MIFTS: 32

Metaphyseal Dysplasia, Spahr Type (MDST)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Metaphyseal Dysplasia, Spahr Type

MalaCards integrated aliases for Metaphyseal Dysplasia, Spahr Type:

Name: Metaphyseal Dysplasia, Spahr Type 56 73
Metaphyseal Chondrodysplasia, Spahr Type 56 58 73 29 6
Metaphyseal Chondrodysplasia Spahr Type 52 71
Spahr Type Metaphyseal Chondrodysplasia 52 73
Mdst 56 73
Metaphyseal Chondrodysplasia Schmid Type 71
Dysplasia, Metaphyseal, Spahr Type 39
Mcds 52

Characteristics:

Orphanet epidemiological data:

58
metaphyseal chondrodysplasia, spahr type
Inheritance: Autosomal recessive;

OMIM:

56
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

31
metaphyseal dysplasia, spahr type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 250400
MeSH 43 D010009
MESH via Orphanet 44 C537353
ICD10 via Orphanet 33 Q78.5
UMLS via Orphanet 72 C0432225
Orphanet 58 ORPHA2501
MedGen 41 C0432225
UMLS 71 C0265289 C0432225

Summaries for Metaphyseal Dysplasia, Spahr Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2501 Definition A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature , progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis , and delayed motor development may also occasionally be associated. Visit the Orphanet disease page for more resources.

MalaCards based summary : Metaphyseal Dysplasia, Spahr Type, also known as metaphyseal chondrodysplasia, spahr type, is related to macular dystrophy, corneal and metaphyseal chondrodysplasia, schmid type, and has symptoms including waddling gait An important gene associated with Metaphyseal Dysplasia, Spahr Type is MMP13 (Matrix Metallopeptidase 13). Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and hip dysplasia

UniProtKB/Swiss-Prot : 73 Metaphyseal dysplasia, Spahr type: An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets.

More information from OMIM: 250400

Related Diseases for Metaphyseal Dysplasia, Spahr Type

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, corneal 12.4
2 metaphyseal chondrodysplasia, schmid type 12.3
3 multicentric castleman disease 12.3
4 malonyl-coa decarboxylase deficiency 12.2
5 multiple carboxylase deficiency 12.1
6 holocarboxylase synthetase deficiency 12.0
7 biotinidase deficiency 11.8
8 focal segmental glomerulosclerosis 11.6
9 kaposi sarcoma 11.5
10 lipoid nephrosis 11.3
11 c1q nephropathy 11.3
12 corneal dystrophy, meesmann, 1 11.2
13 cortical malformations, occipital 11.2
14 microlissencephaly 11.1
15 metaphyseal dysplasia 10.6
16 non-alcoholic steatohepatitis 10.5
17 rickets 10.5
18 fatty liver disease, nonalcoholic 1 10.4
19 fatty liver disease 10.4
20 non-alcoholic fatty liver disease 10.4
21 cartilage-hair hypoplasia 10.3
22 spondyloepimetaphyseal dysplasia, missouri type 10.3
23 metaphyseal anadysplasia 2 10.3
24 metaphyseal anadysplasia 10.3
25 skeletal dysplasias 10.3
26 castleman disease 10.3
27 liver disease 10.3
28 cortical dysplasia, complex, with other brain malformations 10 10.3
29 lissencephaly 10.2
30 nephrotic syndrome 10.2
31 glomerulonephritis 10.2
32 atrial standstill 1 10.1
33 pertussis 10.1
34 mesangial proliferative glomerulonephritis 10.1
35 cytokine deficiency 10.1
36 kshv inflammatory cytokine syndrome 10.1
37 lymphoma aids related 10.1
38 pachygyria 10.1
39 hypotonia 10.1
40 hepatocellular carcinoma 10.0
41 systemic lupus erythematosus 10.0
42 tuberous sclerosis 1 10.0
43 myeloma, multiple 10.0
44 leigh syndrome 10.0
45 schizencephaly 10.0
46 band heterotopia 10.0
47 nephrotic syndrome, type 2 10.0
48 hypertelorism, preauricular sinus, punctal pits, and deafness 10.0
49 pulmonary hypertension, primary, 4 10.0
50 carbonic anhydrase va deficiency, hyperammonemia due to 10.0

Graphical network of the top 20 diseases related to Metaphyseal Dysplasia, Spahr Type:



Diseases related to Metaphyseal Dysplasia, Spahr Type

Symptoms & Phenotypes for Metaphyseal Dysplasia, Spahr Type

Human phenotypes related to Metaphyseal Dysplasia, Spahr Type:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
5 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
6 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
7 short lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006385
8 disproportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003498
9 metaphyseal chondrodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005871
10 progressive leg bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0006409
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
13 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
14 bowing of the long bones 58 Very frequent (99-80%)
15 abnormality of the dentition 58 Frequent (79-30%)
16 abnormality of the metaphysis 58 Very frequent (99-80%)
17 genu valgum 31 HP:0002857
18 waddling gait 31 HP:0002515
19 motor delay 31 HP:0001270
20 metaphyseal dysplasia 58 Very frequent (99-80%)
21 metaphyseal widening 31 HP:0003016
22 abnormality of the head 31 HP:0000234
23 metaphyseal sclerosis 31 HP:0004979

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
genu valgum
short lower limbs
progressive leg bowing
widened epiphyses
sclerotic, widened metaphyses

Neurologic Central Nervous System:
delayed motor milestones

Skeletal Skull:
normal skull

Skeletal:
metaphyseal dysplasia

Growth Height:
short stature, disproportionate (short lower limbs)

Clinical features from OMIM:

250400

UMLS symptoms related to Metaphyseal Dysplasia, Spahr Type:


waddling gait

Drugs & Therapeutics for Metaphyseal Dysplasia, Spahr Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes Study to Determine the Incidence of Symptomatic DVT/PE in Patients Receiving Aspirin With Mechanical Compression Devices Versus Aspirin Alone Following Knee and Hip Arthroplasty Withdrawn NCT03027167 Phase 4 Aspirin
2 Efficacy of Prolonged Distal Calf Compression as Part of a Multimodal DVT Protocol in Tourniquet-less Total Knee Arthroplasty: a Randomized Clinical Trial in 100 Patients Completed NCT02102828
3 OTIS - Optimized Complementary Feeding Study Completed NCT02634749

Search NIH Clinical Center for Metaphyseal Dysplasia, Spahr Type

Genetic Tests for Metaphyseal Dysplasia, Spahr Type

Genetic tests related to Metaphyseal Dysplasia, Spahr Type:

# Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Spahr Type 29 MMP13

Anatomical Context for Metaphyseal Dysplasia, Spahr Type

MalaCards organs/tissues related to Metaphyseal Dysplasia, Spahr Type:

40
Bone

Publications for Metaphyseal Dysplasia, Spahr Type

Articles related to Metaphyseal Dysplasia, Spahr Type:

# Title Authors PMID Year
1
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 56 6 61
24648384 2014
2
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. 6 56
24781753 2015
3
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 6 56
19615667 2009
4
[Familial metaphysial dysostosis. Study of 4 cases in siblings]. 6 56
13915518 1961
5
A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes. 56
18553549 2008
6
The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed. 56
2225533 1990
7
Metaphyseal dysplasia, Spahr type: a mimicker of rickets. 61
31413057 2019
8
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings. 61
27576021 2017

Variations for Metaphyseal Dysplasia, Spahr Type

ClinVar genetic disease variations for Metaphyseal Dysplasia, Spahr Type:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MMP13 NM_002427.4(MMP13):c.694C>A (p.His232Asn)SNV Pathogenic 9446 rs121909500 11:102822846-102822846 11:102952117-102952117
2 MMP13 NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)SNV Pathogenic 183688 rs369083541 11:102826018-102826018 11:102955289-102955289
3 MMP13 NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)SNV Likely pathogenic 183687 rs140059558 11:102824903-102824903 11:102954174-102954174
4 MMP13 NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys)SNV Conflicting interpretations of pathogenicity 301974 rs142064825 11:102815039-102815039 11:102944310-102944310
5 MMP13 NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?)deletion Uncertain significance 548485 rs781838470 11:102814995-102814996 11:102944266-102944267

UniProtKB/Swiss-Prot genetic disease variations for Metaphyseal Dysplasia, Spahr Type:

73
# Symbol AA change Variation ID SNP ID
1 MMP13 p.Trp207Gly VAR_073418 rs140059558

Expression for Metaphyseal Dysplasia, Spahr Type

Search GEO for disease gene expression data for Metaphyseal Dysplasia, Spahr Type.

Pathways for Metaphyseal Dysplasia, Spahr Type

GO Terms for Metaphyseal Dysplasia, Spahr Type

Sources for Metaphyseal Dysplasia, Spahr Type

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