MCID: SPN357
MIFTS: 13

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 53
Spondyloepimetaphyseal Dysplasia Micromelic 53
Semd, Micromelic 57

Characteristics:

OMIM:

57
Inheritance:
?autosomal recessive

Miscellaneous:
based on the report of 1 male child


Classifications:



External Ids:

OMIM 57 601096
MedGen 42 C1832800

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 intellectual disability 32 HP:0001249
3 narrow chest 32 HP:0000774
4 brachydactyly 32 HP:0001156
5 vertebral segmentation defect 32 HP:0003422
6 disproportionate short-limb short stature 32 HP:0008873
7 metaphyseal dysplasia 32 HP:0100255
8 spondyloepimetaphyseal dysplasia 32 HP:0002651

Symptoms via clinical synopsis from OMIM:

57
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. 38 8
8669445 1996
2
Major central nervous system malformation in "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects". 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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