MCID: SPN406
MIFTS: 9

Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies:

Name: Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spondyloepiphyseal dysplasia tarda with characteristic facies:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 600093
MedGen 42 C1838653

Summaries for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies is related to spondyloepiphyseal dysplasia with congenital joint dislocations and spondyloepiphyseal dysplasia tarda, x-linked. Related phenotypes are global developmental delay and wide nasal bridge

More information from OMIM: 600093

Related Diseases for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Diseases related to Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
2 spondyloepiphyseal dysplasia tarda, x-linked 10.3
3 microcephaly 10.3

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 wide nasal bridge 32 HP:0000431
3 microcephaly 32 HP:0000252
4 broad philtrum 32 HP:0000289
5 short philtrum 32 HP:0000322
6 broad nasal tip 32 HP:0000455
7 thick lower lip vermilion 32 HP:0000179
8 thick upper lip vermilion 32 HP:0000215
9 spondyloepiphyseal dysplasia 32 HP:0002655
10 flattened knee epiphyses 32 HP:0005715

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Nose:
broad nasal tip
broad nasal root

Head And Neck Mouth:
thick lips

Skeletal Spine:
progressive narrowing of lumbar spinal interpedicular distance

Head And Neck Face:
broad philtrum
short philtrum

Skeletal Limbs:
flattened knee epiphyses

Skeletal:
spondyloepiphyseal dysplasia tarda

Neurologic Central Nervous System:
developmental delay, moderate

Clinical features from OMIM:

600093

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Genetic Tests for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Anatomical Context for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Publications for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Articles related to Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies:

# Title Authors PMID Year
1
Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies. 38 8
8298734 1993

Variations for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Expression for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies.

Pathways for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

GO Terms for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

Sources for Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies

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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