MCID: MTP028
MIFTS: 28

Metaphyseal Dysplasia, Spahr Type

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

Aliases & Classifications for Metaphyseal Dysplasia, Spahr Type

MalaCards integrated aliases for Metaphyseal Dysplasia, Spahr Type:

Name: Metaphyseal Dysplasia, Spahr Type 57 75
Metaphyseal Chondrodysplasia, Spahr Type 57 59 75 29 6
Metaphyseal Chondrodysplasia Spahr Type 53 73
Spahr Type Metaphyseal Chondrodysplasia 53 75
Mdst 57 75
Metaphyseal Chondrodysplasia Schmid Type 73
Dysplasia, Metaphyseal, Spahr Type 40
Mcds 53

Characteristics:

Orphanet epidemiological data:

59
metaphyseal chondrodysplasia, spahr type
Inheritance: Autosomal recessive;

OMIM:

57
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

32
metaphyseal dysplasia, spahr type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 250400
Orphanet 59 ORPHA2501
MESH via Orphanet 45 C537353
UMLS via Orphanet 74 C0432225
ICD10 via Orphanet 34 Q78.5
MedGen 42 C0432225
MeSH 44 D010009

Summaries for Metaphyseal Dysplasia, Spahr Type

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Metaphyseal Dysplasia, Spahr Type, also known as metaphyseal chondrodysplasia, spahr type, is related to malonyl-coa decarboxylase deficiency and multicentric castleman disease, 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 carious teeth and gait disturbance

Description from OMIM: 250400

Related Diseases for Metaphyseal Dysplasia, Spahr Type

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Metaphyseal Dysplasia, Spahr Type:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
2 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 hip dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001385
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
6 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
7 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
8 disproportionate short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003498
9 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
10 metaphyseal chondrodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005871
11 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
12 short lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006385
13 progressive leg bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0006409
14 abnormality of the dentition 59 Frequent (79-30%)
15 abnormality of the metaphysis 59 Very frequent (99-80%)
16 bowing of the long bones 59 Very frequent (99-80%)
17 metaphyseal dysplasia 59 Very frequent (99-80%)
18 abnormality of the head 32 HP:0000234
19 motor delay 32 HP:0001270
20 waddling gait 32 HP:0002515
21 genu valgum 32 HP:0002857
22 metaphyseal widening 32 HP:0003016
23 metaphyseal sclerosis 32 HP:0004979

UMLS symptoms related to Metaphyseal Dysplasia, Spahr Type:


waddling gait

Drugs & Therapeutics for Metaphyseal Dysplasia, Spahr Type

Search Clinical Trials , 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:

41
Bone

Publications for Metaphyseal Dysplasia, Spahr Type

Articles related to Metaphyseal Dysplasia, Spahr Type:

# Title Authors Year
1
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. ( 24648384 )
2014
2
The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed. ( 2225533 )
1990

Variations for Metaphyseal Dysplasia, Spahr Type

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

75
# Symbol AA change Variation ID SNP ID
1 MMP13 p.Trp207Gly VAR_073418 rs140059558

ClinVar genetic disease variations for Metaphyseal Dysplasia, Spahr Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP13 NM_002427.3(MMP13): c.694C> A (p.His232Asn) single nucleotide variant Pathogenic rs121909500 GRCh37 Chromosome 11, 102822846: 102822846
2 MMP13 NM_002427.3(MMP13): c.694C> A (p.His232Asn) single nucleotide variant Pathogenic rs121909500 GRCh38 Chromosome 11, 102952117: 102952117
3 MMP13 NM_002427.3(MMP13): c.619T> G (p.Trp207Gly) single nucleotide variant Uncertain significance rs140059558 GRCh37 Chromosome 11, 102824903: 102824903
4 MMP13 NM_002427.3(MMP13): c.619T> G (p.Trp207Gly) single nucleotide variant Uncertain significance rs140059558 GRCh38 Chromosome 11, 102954174: 102954174
5 MMP13 NM_002427.3(MMP13): c.325C> T (p.Arg109Ter) single nucleotide variant Pathogenic rs369083541 GRCh38 Chromosome 11, 102955289: 102955289
6 MMP13 NM_002427.3(MMP13): c.325C> T (p.Arg109Ter) single nucleotide variant Pathogenic rs369083541 GRCh37 Chromosome 11, 102826018: 102826018

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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