SPD
MCID: SPN154
MIFTS: 33

Spondyloperipheral Dysplasia (SPD)

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

Aliases & Classifications for Spondyloperipheral Dysplasia

MalaCards integrated aliases for Spondyloperipheral Dysplasia:

Name: Spondyloperipheral Dysplasia 57 53 25 74 29 13 6
Spondyloperipheral Dysplasia with Short Ulna 57 53 25
Spd 25 74
Spondyloperipheral Dysplasia-Short Ulna Syndrome 59
Spondyloperipheral Dysplasia Short Ulna 72
Dysplasia, Spondyloperipheral 40

Characteristics:

Orphanet epidemiological data:

59
spondyloperipheral dysplasia-short ulna syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondyloperipheral dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 271700
MESH via Orphanet 45 C535799
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 73 C0796173
Orphanet 59 ORPHA1856
MedGen 42 C0796173
UMLS 72 C0796173

Summaries for Spondyloperipheral Dysplasia

NIH Rare Diseases : 53 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 with short ulna, is related to synpolydactyly and synpolydactyly 1. An important gene associated with Spondyloperipheral Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are short stature and abnormality of the metaphysis

Genetics Home Reference : 25 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 : 74 Spondyloperipheral dysplasia: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.

Wikipedia : 75 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 58)
# Related Disease Score Top Affiliating Genes
1 synpolydactyly 12.1
2 synpolydactyly 1 12.0
3 subcorneal pustular dermatosis 11.9
4 synpolydactyly 2 11.5
5 isolated delta-storage pool disease 11.3
6 schizoid personality disorder 11.2
7 synpolydactyly 3 11.2
8 obsolete: platelet storage pool disease 11.2
9 brachydactyly 10.6
10 status epilepticus 10.4
11 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
12 platyspondylic lethal skeletal dysplasia, torrance type 10.2
13 chromosome 2q35 duplication syndrome 10.2
14 branchiootic syndrome 1 10.2
15 type ii collagen disorders 10.2
16 collagenopathy type 2 alpha 1 10.2
17 skeletal dysplasias 10.2
18 neural tube defects 10.2
19 storage pool platelet disease 10.2
20 anxiety 10.2
21 visual epilepsy 10.2
22 seizure disorder 10.2
23 migraine with or without aura 1 10.0
24 prostate cancer 10.0
25 lung cancer 10.0
26 jumping frenchmen of maine 10.0
27 neuroblastoma 1 10.0
28 pancreatic cancer 10.0
29 yemenite deaf-blind hypopigmentation syndrome 10.0
30 kala-azar 1 10.0
31 major depressive disorder 10.0
32 major affective disorder 8 10.0
33 major affective disorder 9 10.0
34 myelomeningocele 10.0
35 hyperekplexia 10.0
36 hypoparathyroidism 10.0
37 cystic echinococcosis 10.0
38 echinococcosis 10.0
39 mental depression 10.0
40 acute pancreatitis 10.0
41 bipolar disorder 10.0
42 hermansky-pudlak syndrome 10.0
43 pancreatitis 10.0
44 peritonitis 10.0
45 night blindness 10.0
46 leishmaniasis 10.0
47 visceral leishmaniasis 10.0
48 waardenburg's syndrome 10.0
49 exencephaly 10.0
50 precocious puberty 10.0

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:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
3 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
4 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
5 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
6 type e brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005863
7 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
8 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
9 abnormality of pelvic girdle bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002644
10 hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0003022
11 abnormality of vertebral epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0100734
12 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
13 brachydactyly 59 32 Very frequent (99-80%) HP:0001156
14 malar flattening 32 HP:0000272
15 kyphosis 32 HP:0002808
16 sensorineural hearing impairment 32 HP:0000407
17 broad thumb 32 HP:0011304
18 short foot 32 HP:0001773
19 short toe 32 HP:0001831
20 short thumb 32 HP:0009778
21 midface retrusion 32 HP:0011800
22 flat acetabular roof 32 HP:0003180
23 short distal phalanx of finger 32 HP:0009882
24 broad palm 32 HP:0001169
25 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
26 barrel-shaped chest 32 HP:0001552
27 limited elbow extension 32 HP:0001377
28 short metatarsal 32 HP:0010743
29 flat capital femoral epiphysis 32 HP:0003370
30 shortening of all middle phalanges of the fingers 32 HP:0006110
31 spondyloepiphyseal dysplasia 32 HP:0002655
32 short distal phalanx of the 5th finger 32 HP:0004227
33 shortening of all proximal phalanges of the fingers 32 HP:0006144
34 acetabular spurs 32 HP:0010454
35 pugilistic facies 32 HP:0000339
36 short distal phalanx of the 3rd finger 32 HP:0004180
37 absent styloid process of ulna 32 HP:0005068
38 short distal phalanx of the 4th finger 32 HP:0009290
39 short distal phalanx of the 2nd finger 32 HP:0009566

Symptoms via clinical synopsis from OMIM:

57
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

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 29 COL2A1

Anatomical Context for Spondyloperipheral Dysplasia

MalaCards organs/tissues related to Spondyloperipheral Dysplasia:

41
Bone

Publications for Spondyloperipheral Dysplasia

Articles related to Spondyloperipheral Dysplasia:

(show all 19)
# Title Authors PMID Year
1
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 38 8 71
15316962 2004
2
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. 38 8 71
8723097 1996
3
Czech dysplasia metatarsal type: another type II collagen disorder. 38 71
17726487 2007
4
Spondyloperipheral dysplasia. 38 8
8588574 1995
5
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. 38 8
104811 1979
6
Type II Collagen Disorders Overview 71
31021589 2019
7
Czech dysplasia metatarsal type. 71
15266623 2004
8
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. 71
14729840 2004
9
Unique skeletal dysplasia with absence of the distal ulnae. 8
3425631 1987
10
Spondyloepiphyseal dysplasia. 8
6405037 1983
11
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. 38
25604898 2015
12
Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. 38
23545312 2013
13
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. 38
22495950 2012
14
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 38
21356074 2011
15
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. 38
15643621 2005
16
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects. 38
12884428 2003
17
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly. 38
11200993 2001
18
[Spondyloperipheral dysplasia]. 38
11528970 2001
19
An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia". 38
407956 1977

Variations for Spondyloperipheral Dysplasia

ClinVar genetic disease variations for Spondyloperipheral Dysplasia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 12:48377504-48377504 12:47983721-47983721
2 COL2A1 NM_001844.5(COL2A1): c.4314C> A (p.Cys1438Ter) single nucleotide variant Pathogenic rs121912890 12:48367875-48367875 12:47974092-47974092
3 COL2A1 NM_001844.5(COL2A1): c.4337del (p.Gly1446fs) deletion Pathogenic 12:48367317-48367317 12:47973534-47973534
4 COL2A1 NM_001844.5(COL2A1): c.4172A> G (p.Tyr1391Cys) single nucleotide variant Pathogenic rs121912889 12:48368017-48368017 12:47974234-47974234
5 COL2A1 NM_001844.5(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 12:48393736-48393736 12:47999953-47999953
6 COL2A1 COL2A1, 5-BP DUP duplication Pathogenic
7 COL2A1 NM_001844.5(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 12:48372112-48372112 12:47978329-47978329
8 COL2A1 NM_001844.5(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912886 12:48367873-48367873 12:47974090-47974090
9 COL2A1 NM_001844.5(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 12:48388220-48388220 12:47994437-47994437
10 COL2A1 NM_001844.5(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 12:48374344-48374344 12:47980561-47980561

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
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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