SPD
MCID: SPN154
MIFTS: 34

Spondyloperipheral Dysplasia (SPD)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloperipheral Dysplasia

MalaCards integrated aliases for Spondyloperipheral Dysplasia:

Name: Spondyloperipheral Dysplasia 57 12 20 43 73 13
Spondyloperipheral Dysplasia-Short Ulna Syndrome 12 58 29 6
Spondyloperipheral Dysplasia with Short Ulna 57 20 43
Spd 43 73
Spondyloperipheral Dysplasia Short Ulna 71
Dysplasia, Spondyloperipheral 39

Characteristics:

Orphanet epidemiological data:

58
spondyloperipheral dysplasia-short ulna syndrome
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
spondyloperipheral dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0112195
OMIM® 57 271700
MESH via Orphanet 45 C535799
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C0796173
Orphanet 58 ORPHA1856
MedGen 41 C0796173
UMLS 71 C0796173

Summaries for Spondyloperipheral Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1856DefinitionSpondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloperipheral Dysplasia, also known as spondyloperipheral dysplasia-short ulna syndrome, is related to synpolydactyly 1 and synpolydactyly. An important gene associated with Spondyloperipheral Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are hearing impairment and cleft palate

Disease Ontology : 12 An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has material basis in heterozygous mutation in COL2A1 on chromosome 12q13.11.

MedlinePlus Genetics : 43 Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.

UniProtKB/Swiss-Prot : 73 Spondyloperipheral dysplasia: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.

Wikipedia : 74 Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is... more...

More information from OMIM: 271700

Related Diseases for Spondyloperipheral Dysplasia

Diseases related to Spondyloperipheral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 synpolydactyly 1 11.4
2 synpolydactyly 11.4
3 subcorneal pustular dermatosis 11.3
4 isolated delta-storage pool disease 11.1
5 synpolydactyly 2 11.0
6 synpolydactyly 3 10.9
7 schizoid personality disorder 10.9
8 brachydactyly 10.4
9 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
10 status epilepticus 10.1
11 hepatocellular carcinoma 10.1
12 platyspondylic lethal skeletal dysplasia, torrance type 10.0
13 chromosome 2q35 duplication syndrome 10.0
14 branchiootic syndrome 1 10.0
15 type ii collagen disorders 10.0
16 skeletal dysplasias 10.0
17 pancreatic cancer 10.0
18 cystic echinococcosis 10.0
19 echinococcosis 10.0
20 hepatitis b 10.0
21 hepatitis 10.0
22 glioma 10.0
23 glial tumor 10.0
24 systemic lupus erythematosus 9.9
25 ovarian cancer 9.9
26 rheumatoid arthritis 9.9
27 neural tube defects 9.9
28 storage pool platelet disease 9.9
29 lung cancer 9.9
30 acute pancreatitis 9.9
31 glioblastoma 9.9
32 pancreatitis 9.9
33 lupus erythematosus 9.9
34 48,xyyy 9.9
35 ovarian epithelial cancer 9.9
36 seizure disorder 9.9
37 fibrosis of extraocular muscles, congenital, 1 9.8
38 renal cell carcinoma, nonpapillary 9.8
39 migraine with or without aura 1 9.8
40 central cloudy dystrophy of francois 9.8
41 jumping frenchmen of maine 9.8
42 stroke, ischemic 9.8
43 yemenite deaf-blind hypopigmentation syndrome 9.8
44 cervical cancer 9.8
45 nasopharyngeal carcinoma 9.8
46 allergic rhinitis 9.8
47 meningioma, familial 9.8
48 major depressive disorder 9.8
49 major affective disorder 8 9.8
50 major affective disorder 9 9.8

Graphical network of the top 20 diseases related to Spondyloperipheral Dysplasia:



Diseases related to Spondyloperipheral Dysplasia

Symptoms & Phenotypes for Spondyloperipheral Dysplasia

Human phenotypes related to Spondyloperipheral Dysplasia:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
2 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
3 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
4 hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0003022
5 disproportionate short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003498
6 flattened epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0003071
7 type e brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0005863
8 irregular epiphyses 58 31 frequent (33%) Frequent (79-30%) HP:0010582
9 abnormality of the vertebral endplates 58 31 frequent (33%) Frequent (79-30%) HP:0005106
10 delayed pubic bone ossification 58 31 frequent (33%) Frequent (79-30%) HP:0008788
11 abnormality of the hip joint 58 31 frequent (33%) Frequent (79-30%) HP:0001384
12 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
14 ovoid vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003300
15 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
16 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
17 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
18 short metatarsal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010743
19 flattened femoral head 58 31 occasional (7.5%) Occasional (29-5%) HP:0008812
20 limited elbow extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001377
21 broad hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0010055
22 arthralgia of the hip 58 31 occasional (7.5%) Occasional (29-5%) HP:0003365
23 kyphosis 31 HP:0002808
24 pectus carinatum 31 HP:0000768
25 sensorineural hearing impairment 31 HP:0000407
26 short stature 31 HP:0004322
27 broad thumb 31 HP:0011304
28 short toe 31 HP:0001831
29 brachydactyly 31 HP:0001156
30 malar flattening 31 HP:0000272
31 short thumb 31 HP:0009778
32 short distal phalanx of finger 31 HP:0009882
33 midface retrusion 31 HP:0011800
34 short metacarpal 31 HP:0010049
35 short foot 31 HP:0001773
36 broad palm 31 HP:0001169
37 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
38 flat acetabular roof 31 HP:0003180
39 shortening of all middle phalanges of the fingers 31 HP:0006110
40 flat capital femoral epiphysis 31 HP:0003370
41 barrel-shaped chest 31 HP:0001552
42 spondyloepiphyseal dysplasia 31 HP:0002655
43 aplasia/hypoplasia involving bones of the extremities 58 Frequent (79-30%)
44 short distal phalanx of the 5th finger 31 HP:0004227
45 shortening of all proximal phalanges of the fingers 31 HP:0006144
46 acetabular spurs 31 HP:0010454
47 pugilistic facies 31 HP:0000339
48 short distal phalanx of the 3rd finger 31 HP:0004180
49 absent styloid process of ulna 31 HP:0005068
50 short distal phalanx of the 4th finger 31 HP:0009290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
kyphosis
platyspondyly, mild
biconcave disc (fish-mouth vertebrae)

Growth Height:
short stature

Skeletal:
spondyloepiphyseal dysplasia

Skeletal Feet:
short phalanges
short feet
short metatarsals (4th)

Skeletal Pelvis:
horizontal acetabulae
flattened capital femoral epiphyses
short ilia
acetabular spurs (infancy)

Chest External Features:
pectus carinatum
barrel-shaped chest

Skeletal Limbs:
limited elbow extension
short ulna
absent styloid processes

Head And Neck Face:
midface hypoplasia
'pugilistic facies'

Skeletal Hands:
cone-shaped epiphyses
short fingers
broad hands
very short distal phalanges (2nd, 3rd, 4th, 5th)
short metacarpals (2nd, 3rd, 4th, 5th)
more
Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM®:

271700 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spondyloperipheral Dysplasia

Search Clinical Trials , NIH Clinical Center for Spondyloperipheral Dysplasia

Genetic Tests for Spondyloperipheral Dysplasia

Genetic tests related to Spondyloperipheral Dysplasia:

# Genetic test Affiliating Genes
1 Spondyloperipheral Dysplasia-Short Ulna Syndrome 29 COL2A1

Anatomical Context for Spondyloperipheral Dysplasia

MalaCards organs/tissues related to Spondyloperipheral Dysplasia:

40
Bone

Publications for Spondyloperipheral Dysplasia

Articles related to Spondyloperipheral Dysplasia:

(show all 18)
# Title Authors PMID Year
1
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 6 61 57
15316962 2004
2
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. 57 6 61
8723097 1996
3
Czech dysplasia metatarsal type: another type II collagen disorder. 61 6
17726487 2007
4
Spondyloperipheral dysplasia. 61 57
8588574 1995
5
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. 57 61
104811 1979
6
Czech dysplasia metatarsal type. 6
15266623 2004
7
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. 6
14729840 2004
8
Unique skeletal dysplasia with absence of the distal ulnae. 57
3425631 1987
9
Spondyloepiphyseal dysplasia. 57
6405037 1983
10
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 61
25604898 2015
11
Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. 61
23545312 2013
12
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. 61
22495950 2012
13
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 61
21356074 2011
14
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. 61
15643621 2005
15
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects. 61
12884428 2003
16
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly. 61
11200993 2001
17
[Spondyloperipheral dysplasia]. 61
11528970 2001
18
An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia". 61
407956 1977

Variations for Spondyloperipheral Dysplasia

ClinVar genetic disease variations for Spondyloperipheral Dysplasia:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) SNV Pathogenic 17389 rs121912889 12:48368017-48368017 12:47974234-47974234
2 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
3 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
4 COL2A1 NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) SNV Pathogenic 195742 rs121912880 12:48380136-48380136 12:47986353-47986353
5 COL2A1 NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter) SNV Pathogenic 17392 rs121912890 12:48367875-48367875 12:47974092-47974092
6 COL2A1 NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) Deletion Pathogenic 17391 rs1565664375 12:48367317-48367317 12:47973534-47973534
7 COL2A1 COL2A1, 5-BP DUP Duplication Pathogenic 17380
8 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
9 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
10 COL2A1 NM_001844.5(COL2A1):c.3436-2A>G SNV Likely pathogenic 829877 rs1592198803 12:48370352-48370352 12:47976569-47976569
11 COL2A1 NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) SNV Likely pathogenic 17385 rs121912886 12:48367873-48367873 12:47974090-47974090
12 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 12:48374344-48374344 12:47980561-47980561
13 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 12:48388220-48388220 12:47994437-47994437

Expression for Spondyloperipheral Dysplasia

Search GEO for disease gene expression data for Spondyloperipheral Dysplasia.

Pathways for Spondyloperipheral Dysplasia

GO Terms for Spondyloperipheral Dysplasia

Sources for Spondyloperipheral Dysplasia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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