MCID: MTP023
MIFTS: 20

Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Categories: Genetic diseases, Bone diseases, Fetal 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 57 75 13 73
Mdmhb 57 75
Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 156510
Orphanet 59 ORPHA2504
ICD10 via Orphanet 34 Q77.8
MeSH 44 D001848
UMLS 73 C3549874

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

OMIM : 57 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 thin vermilion border and short philtrum

UniProtKB/Swiss-Prot : 75 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 9.9
2 brachydactyly 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 thin vermilion border 32 HP:0000233
2 short philtrum 32 HP:0000322
3 hypoplasia of the maxilla 32 HP:0000327
4 convex nasal ridge 32 HP:0000444
5 platyspondyly 32 HP:0000926
6 flared metaphysis 32 HP:0003015
7 short middle phalanx of the 5th finger 32 HP:0004220
8 short stature 32 HP:0004322
9 osteoporosis of vertebrae 32 HP:0005625
10 multiple small vertebral fractures 32 HP:0005877
11 premature loss of teeth 32 HP:0006480
12 short middle phalanx of the 2nd finger 32 HP:0009577
13 short 5th metacarpal 32 HP:0010047
14 metaphyseal dysplasia 32 HP:0100255

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:

41
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

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 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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