MDMHB
MCID: MTP023
MIFTS: 20

Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly (MDMHB)

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

Aliases & Classifications for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

MalaCards integrated aliases for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

Name: Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 58 76 13 74
Mdmhb 58 76
Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 156510
MeSH 45 D001848
ICD10 via Orphanet 35 Q77.8
Orphanet 60 ORPHA2504
UMLS 74 C3549874

Summaries for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

OMIM : 58 Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by Moffatt et al., 2013). (156510)

MalaCards based summary : Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly, also known as mdmhb, is related to pyle disease and brachydactyly. An important gene associated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly is RUNX2 (Runt Related Transcription Factor 2). Affiliated tissues include bone and cortex, and related phenotypes are short stature and platyspondyly

UniProtKB/Swiss-Prot : 76 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly: An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth.

Related Diseases for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

Diseases related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyle disease 10.1
2 brachydactyly 10.1

Symptoms & Phenotypes for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

Human phenotypes related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 platyspondyly 33 HP:0000926
3 short 5th metacarpal 33 HP:0010047
4 short philtrum 33 HP:0000322
5 hypoplasia of the maxilla 33 HP:0000327
6 convex nasal ridge 33 HP:0000444
7 thin vermilion border 33 HP:0000233
8 osteoporosis of vertebrae 33 HP:0005625
9 short middle phalanx of the 5th finger 33 HP:0004220
10 metaphyseal dysplasia 33 HP:0100255
11 flared metaphysis 33 HP:0003015
12 premature loss of teeth 33 HP:0006480
13 short middle phalanx of the 2nd finger 33 HP:0009577
14 multiple small vertebral fractures 33 HP:0005877

Symptoms via clinical synopsis from OMIM:

58
Growth:
short stature

Facies:
short philtrum
maxillary hypoplasia

Nose:
beaked nose

Mouth:
thin lips

Radiology:
platyspondyly
osteoporosis of vertebrae
enlarged sternal ends of clavicles
flared metaphyses with thin cortex and osteoporosis, esp
proximal humerus, distal femur and proximal tibia
more
Skel:
metaphyseal dysplasia

Teeth:
early tooth loss
dystrophic yellowish teeth

Limbs:
short fifth metacarpal
short middle phalanx of fingers 2 and 5

Clinical features from OMIM:

156510

Drugs & Therapeutics for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

Search Clinical Trials , NIH Clinical Center for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Genetic Tests for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

Anatomical Context for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

MalaCards organs/tissues related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

42
Bone, Cortex

Publications for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

Variations for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

ClinVar genetic disease variations for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RUNX2 NG_008020.1: g.17867_122832dup duplication Pathogenic GRCh37 Chromosome 6, 45308920: 45413885
2 RUNX2 NG_008020.1: g.17867_122832dup duplication Pathogenic GRCh38 Chromosome 6, 45341183: 45446148
3 RUNX2 NM_001024630.3(RUNX2): c.217delG (p.Ala73Argfs) deletion Conflicting interpretations of pathogenicity rs1554384228 GRCh38 Chromosome 6, 45422751: 45422751
4 RUNX2 NM_001024630.3(RUNX2): c.217delG (p.Ala73Argfs) deletion Conflicting interpretations of pathogenicity rs1554384228 GRCh37 Chromosome 6, 45390488: 45390488
5 RUNX2 NM_001024630.3(RUNX2): c.233_234insAGGA (p.Ala79Glyfs) insertion Uncertain significance rs1338909353 GRCh37 Chromosome 6, 45390504: 45390505
6 RUNX2 NM_001024630.3(RUNX2): c.233_234insAGGA (p.Ala79Glyfs) insertion Uncertain significance rs1338909353 GRCh38 Chromosome 6, 45422767: 45422768

Expression for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

Search GEO for disease gene expression data for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly.

Pathways for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

GO Terms for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

Sources for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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