MCID: SPN357
MIFTS: 14

Spondyloepimetaphyseal Dysplasia, Micromelic

Categories: Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Micromelic

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Micromelic:

Name: Spondyloepimetaphyseal Dysplasia, Micromelic 57
Dwarfism, Micromelic, with Cone Epiphyses, Metaphyseal Dysplasia, and Vertebral Segmentation Defects 57
Micromelic Dwarfism with Cone Epiphyses, Metaphyseal Dysplasia and Vertebral Segmentation Defects 20
Spondyloepimetaphyseal Dysplasia Micromelic 20
Semd, Micromelic 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
?autosomal recessive

Miscellaneous:
based on the report of 1 male child


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Micromelic

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Micromelic, also known as dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects, is related to metaphyseal dysplasia and dwarfism. Related phenotypes are intellectual disability and short neck

More information from OMIM: 601096

Related Diseases for Spondyloepimetaphyseal Dysplasia, Micromelic

Diseases related to Spondyloepimetaphyseal Dysplasia, Micromelic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia 10.7
2 dwarfism 10.7
3 brachydactyly 10.6
4 osteochondrodysplasia 10.6
5 central nervous system malformation 10.6

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Micromelic:



Diseases related to Spondyloepimetaphyseal Dysplasia, Micromelic

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Micromelic

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Micromelic:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 short neck 31 HP:0000470
3 brachydactyly 31 HP:0001156
4 vertebral segmentation defect 31 HP:0003422
5 narrow chest 31 HP:0000774
6 disproportionate short-limb short stature 31 HP:0008873
7 metaphyseal dysplasia 31 HP:0100255
8 spondyloepimetaphyseal dysplasia 31 HP:0002651

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
short neck

Neurologic Central Nervous System:
mental retardation

Chest External Features:
short and narrow upper thorax

Skeletal Limbs:
brachydactyly
metaphyseal skeletal dysplasia, generalized

Growth Height:
micromelic dwarfism, severe

Skeletal Spine:
vertebral segmentation defects, severe

Clinical features from OMIM®:

601096 (Updated 20-May-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Micromelic

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Micromelic

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Micromelic

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Micromelic

Publications for Spondyloepimetaphyseal Dysplasia, Micromelic

Articles related to Spondyloepimetaphyseal Dysplasia, Micromelic:

# Title Authors PMID Year
1
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. 57 61
8669445 1996
2
Major central nervous system malformation in "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects". 61
8986289 1997

Variations for Spondyloepimetaphyseal Dysplasia, Micromelic

Expression for Spondyloepimetaphyseal Dysplasia, Micromelic

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Micromelic.

Pathways for Spondyloepimetaphyseal Dysplasia, Micromelic

GO Terms for Spondyloepimetaphyseal Dysplasia, Micromelic

Sources for Spondyloepimetaphyseal Dysplasia, Micromelic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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