MCID: SPN125
MIFTS: 24

Spondyloenchondrodysplasia

Categories: Rare diseases

Aliases & Classifications for Spondyloenchondrodysplasia

MalaCards integrated aliases for Spondyloenchondrodysplasia:

Name: Spondyloenchondrodysplasia 53 73
Spondylometaphyseal Dysplasia with Enchondromatous Changes 53
Spondyloenchondromatosis 53
Spencd 53
Sem 53

Classifications:



External Ids:

UMLS 73 C0432222

Summaries for Spondyloenchondrodysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1855Disease definitionSpondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloenchondrodysplasia, also known as spondylometaphyseal dysplasia with enchondromatous changes, is related to spondyloenchondrodysplasia with immune dysregulation and bone dysplasia azouz type. An important gene associated with Spondyloenchondrodysplasia is ACP5 (Acid Phosphatase 5, Tartrate Resistant). Affiliated tissues include bone, and related phenotypes are delayed eruption of teeth and abnormality of the metaphysis

Related Diseases for Spondyloenchondrodysplasia

Graphical network of the top 20 diseases related to Spondyloenchondrodysplasia:



Diseases related to Spondyloenchondrodysplasia

Symptoms & Phenotypes for Spondyloenchondrodysplasia

Human phenotypes related to Spondyloenchondrodysplasia:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth 32 frequent (33%) HP:0000684
2 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
3 kyphosis 32 hallmark (90%) HP:0002808
4 micromelia 32 hallmark (90%) HP:0002983
5 hyperlordosis 32 hallmark (90%) HP:0003307
6 abnormal form of the vertebral bodies 32 hallmark (90%) HP:0003312
7 abnormality of epiphysis morphology 32 frequent (33%) HP:0005930
8 large iliac wings 32 frequent (33%) HP:0008818
9 rhizomelia 32 hallmark (90%) HP:0008905

Drugs & Therapeutics for Spondyloenchondrodysplasia

Search Clinical Trials , NIH Clinical Center for Spondyloenchondrodysplasia

Genetic Tests for Spondyloenchondrodysplasia

Anatomical Context for Spondyloenchondrodysplasia

MalaCards organs/tissues related to Spondyloenchondrodysplasia:

41
Bone

Publications for Spondyloenchondrodysplasia

Articles related to Spondyloenchondrodysplasia:

(show all 18)
# Title Authors Year
1
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone. ( 28740483 )
2017
2
Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature. ( 26854080 )
2016
3
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. ( 26951490 )
2016
4
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene. ( 26346816 )
2015
5
Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV). ( 23053755 )
2013
6
Spondyloenchondrodysplasia: a rare cause of short stature. ( 21980854 )
2011
7
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation. ( 18924170 )
2008
8
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]. ( 17497723 )
2007
9
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. ( 16470600 )
2006
10
Autosomal dominant inheritance of spondyloenchondrodysplasia. ( 15887273 )
2005
11
Spondyloenchondrodysplasia: clinical variability in three cases. ( 15214014 )
2004
12
Pathological fractures in spondyloenchondrodysplasia: case report. ( 10663524 )
2000
13
Spondyloenchondrodysplasia: several phenotypes--the same syndrome. ( 9716637 )
1998
14
Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome. ( 1882681 )
1991
15
Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. ( 2363422 )
1990
16
Case report 512: Spondyloenchondrodysplasia (SED) in two siblings. ( 2919303 )
1989
17
Spondyloenchondrodysplasia. ( 2918547 )
1989
18
Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers. ( 1244645 )
1976

Variations for Spondyloenchondrodysplasia

Expression for Spondyloenchondrodysplasia

Search GEO for disease gene expression data for Spondyloenchondrodysplasia.

Pathways for Spondyloenchondrodysplasia

GO Terms for Spondyloenchondrodysplasia

Sources for Spondyloenchondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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