MCID: SPN406
MIFTS: 10

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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spondyloepiphyseal dysplasia tarda with characteristic facies:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 600093
MedGen 41 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 wide nasal bridge 31 HP:0000431
3 microcephaly 31 HP:0000252
4 thick lower lip vermilion 31 HP:0000179
5 short philtrum 31 HP:0000322
6 broad philtrum 31 HP:0000289
7 thick upper lip vermilion 31 HP:0000215
8 broad nasal tip 31 HP:0000455
9 spondyloepiphyseal dysplasia 31 HP:0002655
10 flattened knee epiphyses 31 HP:0005715

Symptoms via clinical synopsis from OMIM:

56
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:
short philtrum
broad 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. 56 61
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 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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