SEMDSP
MCID: SPN248
MIFTS: 35

Spondyloepimetaphyseal Dysplasia, Sponastrime Type (SEMDSP)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

Name: Spondyloepimetaphyseal Dysplasia, Sponastrime Type 57 12 58 72 15 70
Sponastrime Dysplasia 57 12 73 20 58 72 29 6
Spondylar and Nasal Alterations with Striated Metaphyses 57 20 72
Semdsp 57 72
Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation 57
Short Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation 20
Short Limb Dwarfism with Saddle Nose, Spinal Alterations and Metaphyseal Striation 72
Spondylar and Nasal Changes with Striations of the Metaphyses Dysplasia 58
Spondylar and Nasal Alterations-Striated Metaphyses Syndrome 12
Dysplasia, Spondyloepimetaphyseal, Sponastrime Type 39
Spondyloepimetaphyseal Dysplasia Sponastrime Type 20

Characteristics:

Orphanet epidemiological data:

58
sponastrime dysplasia
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)


HPO:

31
spondyloepimetaphyseal dysplasia, sponastrime type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

OMIM® : 57 Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019). (271510) (Updated 05-Apr-2021)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Sponastrime Type, also known as sponastrime dysplasia, is related to lubs x-linked mental retardation syndrome and chiari malformation type ii. An important gene associated with Spondyloepimetaphyseal Dysplasia, Sponastrime Type is TONSL (Tonsoku Like, DNA Repair Protein). Affiliated tissues include bone, and related phenotypes are frontal bossing and delayed skeletal maturation

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has material basis in autosomal recessive inheritance.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93357 Definition A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia, sponastrime type: An autosomal recessive bone disease characterized by spine abnormalities, mid-face hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Disease severity and clinical manifestations are variable. Some patients have mental retardation.

Wikipedia : 73 This is a rare condition characterised by facial and skeletal... more...

Related Diseases for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 lubs x-linked mental retardation syndrome 29.7 TONSL-AS1 TONSL
2 chiari malformation type ii 10.5
3 chiari malformation 10.5
4 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.3
5 spondyloepimetaphyseal dysplasia, genevieve type 10.2
6 scoliosis 10.2
7 spondyloepimetaphyseal dysplasia 10.2
8 coxa vara 10.1
9 agammaglobulinemia 10.1
10 cataract 10.1
11 dwarfism 10.1
12 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
13 spondyloepimetaphyseal dysplasia, strudwick type 10.0
14 metaphyseal dysplasia 10.0
15 microcephaly 10.0
16 avascular necrosis 10.0

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:



Diseases related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
8 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
9 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
10 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
11 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
12 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
13 mesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003027
14 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
15 lumbar hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002938
16 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
17 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
18 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
19 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
20 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
21 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
22 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
23 hypotonia 31 frequent (33%) HP:0001252
24 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
25 intellectual disability 31 occasional (7.5%) HP:0001249
26 decreased circulating antibody level 31 occasional (7.5%) HP:0004313
27 arnold-chiari malformation 31 very rare (1%) HP:0002308
28 neutropenia 31 very rare (1%) HP:0001875
29 congenital hypothyroidism 31 very rare (1%) HP:0000851
30 osteopenia 31 HP:0000938
31 muscular hypotonia 58 Frequent (79-30%)
32 hypertelorism 31 HP:0000316
33 mandibular prognathia 31 HP:0000303
34 abnormality of the dentition 31 HP:0000164
35 short stature 58 Very frequent (99-80%)
36 genu valgum 31 HP:0002857
37 decreased antibody level in blood 58 Occasional (29-5%)
38 kyphoscoliosis 31 HP:0002751
39 intellectual disability, progressive 31 HP:0006887
40 bulbous nose 31 HP:0000414
41 genu varum 31 HP:0002970
42 coxa vara 31 HP:0002812
43 midface retrusion 31 HP:0011800
44 disproportionate short-limb short stature 31 HP:0008873
45 relative macrocephaly 31 HP:0004482
46 biconcave vertebral bodies 31 HP:0004586
47 subglottic stenosis 31 HP:0001607
48 decreased circulating igg level 31 HP:0004315
49 laryngotracheomalacia 31 HP:0008755
50 limited elbow extension 31 HP:0001377

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
midface hypoplasia
prognathism

Head And Neck Nose:
depressed nasal bridge
bulbous nose
short, upturned nose

Growth Height:
short stature
short-limb dwarfism

Skeletal Spine:
kyphoscoliosis
thoracic kyphosis
lumbar lordosis, increased
platyspondyly (early childhood)
relative increase in anterior vertebral body height
more
Respiratory Larynx:
subglottic stenosis
laryngotracheomalacia

Neurologic Central Nervous System:
mental retardation (in some patients)
arnold-chiari malformation (rare)

Immunology:
hypogammaglobulinemia
neutropenia (rare)

Endocrine Features:
congenital hypothyroidism (rare)

Skeletal:
osteopenia
delayed bone age

Head And Neck Eyes:
hypertelorism
cataracts, early-onset
aphakia (rare)
absent pupils (rare)

Skeletal Limbs:
genu valgum
genu varum
limited elbow extension
metaphyseal striations
irregular metaphyses
more
Skeletal Pelvis:
coxa vara
flattened capital femoral epiphyses

Head And Neck Teeth:
short dental roots

Head And Neck Head:
macrocephaly, relative

Skeletal Hands:
delayed carpal bone ossification

Clinical features from OMIM®:

271510 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

# Genetic test Affiliating Genes
1 Sponastrime Dysplasia 29 TONSL

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

40
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Articles related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

(show all 20)
# Title Authors PMID Year
1
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 61 6 57
30773277 2019
2
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. 6 61 57
30773278 2019
3
Sponastrime dysplasia: presentation in infancy. 61 6 57
11768397 2001
4
SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature. 6 57 61
10797420 2000
5
A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. 57 6
10319195 1999
6
Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report. 57 61
27149441 2016
7
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts. 57 61
18203204 2008
8
Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness. 57 61
11822706 2002
9
Sponastrime dysplasia: five new cases and review of nine previously published cases. 61 57
8723082 1996
10
Sponastrime dysplasia. A radiologic-pathologic correlation. 57 61
2771481 1989
11
The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings. 57 61
6618893 1983
12
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis. 61
32959051 2020
13
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. 61
18841068 2008
14
[SPONASTRIME dysplasia]. 61
11528960 2001
15
Another observation of Langer-type sponastrime dysplasia variant. 61
9843056 1998
16
Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases. 61
9133352 1997
17
SPONASTRIME dysplasia: report on a female patient with severe skeletal changes. 61
8989461 1996
18
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation. 61
7551156 1995
19
Sponastrime dysplasia: report on a male patient. 61
7824362 1994
20
Sponastrime dysplasia: report on two siblings with metal retardation. 61
8152878 1993

Variations for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TONSL TONSL, EX23 DEL Deletion Pathogenic 638068 GRCh37:
GRCh38:
2 TONSL-AS1 , TONSL NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln) SNV Pathogenic 638069 rs777654833 GRCh37: 8:145662463-145662463
GRCh38: 8:144437080-144437080
3 TONSL NM_013432.5(TONSL):c.866-1G>C SNV Pathogenic 638066 rs1424148372 GRCh37: 8:145666495-145666495
GRCh38: 8:144441112-144441112
4 TONSL NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) SNV Pathogenic 638067 rs1335783881 GRCh37: 8:145667779-145667779
GRCh38: 8:144442396-144442396
5 TONSL-AS1 , TONSL NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) SNV Pathogenic 638059 rs755575416 GRCh37: 8:145660909-145660909
GRCh38: 8:144435526-144435526
6 TONSL NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) SNV Pathogenic 638065 rs775551492 GRCh37: 8:145665404-145665404
GRCh38: 8:144440021-144440021
7 TONSL-AS1 , TONSL NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) SNV Pathogenic/Likely pathogenic 638060 rs769100855 GRCh37: 8:145661409-145661409
GRCh38: 8:144436026-144436026
8 TONSL NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) SNV Pathogenic/Likely pathogenic 638061 rs1586681982 GRCh37: 8:145657814-145657814
GRCh38: 8:144432431-144432431
9 TONSL NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) SNV Pathogenic/Likely pathogenic 638062 rs563710728 GRCh37: 8:145665425-145665425
GRCh38: 8:144440042-144440042
10 TONSL-AS1 , TONSL NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) Deletion Pathogenic/Likely pathogenic 638063 rs1586692058 GRCh37: 8:145663895-145663905
GRCh38: 8:144438512-144438522
11 TONSL-AS1 , TONSL NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) Indel Pathogenic/Likely pathogenic 638064 rs1586687279 GRCh37: 8:145661169-145661178
GRCh38: 8:144435786-144435795
12 TONSL NM_013432.5(TONSL):c.3096dup (p.Gln1033fs) Duplication Likely pathogenic 982172 GRCh37: 8:145659651-145659652
GRCh38: 8:144434268-144434269
13 TONSL NM_013432.5(TONSL):c.460C>T (p.Gln154Ter) SNV Likely pathogenic 982173 GRCh37: 8:145668178-145668178
GRCh38: 8:144442795-144442795
14 TONSL-AS1 , TONSL NM_013432.5(TONSL):c.1864dup (p.Ala622fs) Duplication Likely pathogenic 982174 GRCh37: 8:145662165-145662166
GRCh38: 8:144436782-144436783
15 TONSL NM_013432.5(TONSL):c.122-5C>G SNV Likely pathogenic 982175 GRCh37: 8:145669412-145669412
GRCh38: 8:144444029-144444029
16 TONSL NM_013432.5(TONSL):c.3796dup (p.Arg1266fs) Duplication Likely pathogenic 982176 GRCh37: 8:145656473-145656474
GRCh38: 8:144431090-144431091

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

72
# Symbol AA change Variation ID SNP ID
1 TONSL p.Ser174Asn VAR_083010
2 TONSL p.Glu199Lys VAR_083011 rs133578388
3 TONSL p.Glu539Lys VAR_083016 rs370196996
4 TONSL p.Arg558Gln VAR_083017 rs777654833
5 TONSL p.Thr653Met VAR_083019 rs755055463
6 TONSL p.Arg934Trp VAR_083022 rs755575416
7 TONSL p.Gly973Arg VAR_083024 rs134219819
8 TONSL p.Ser1197Pro VAR_083025

Expression for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Sponastrime Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sources for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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