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 56
Dwarfism, Micromelic, with Cone Epiphyses, Metaphyseal Dysplasia, and Vertebral Segmentation Defects 56
Micromelic Dwarfism with Cone Epiphyses, Metaphyseal Dysplasia and Vertebral Segmentation Defects 52
Spondyloepimetaphyseal Dysplasia Micromelic 52
Semd, Micromelic 56

Characteristics:

OMIM:

56
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 pyle disease and dwarfism. Related phenotypes are short neck and intellectual disability

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 pyle disease 10.7
2 dwarfism 10.7
3 brachydactyly 10.6
4 central nervous system malformation 10.6

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Micromelic

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Micromelic:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 intellectual disability 31 HP:0001249
3 brachydactyly 31 HP:0001156
4 narrow chest 31 HP:0000774
5 vertebral segmentation defect 31 HP:0003422
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:

56
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

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. 61 56
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
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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