MCID: SPN154
MIFTS: 31

Spondyloperipheral Dysplasia

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

Aliases & Classifications for Spondyloperipheral Dysplasia

MalaCards integrated aliases for Spondyloperipheral Dysplasia:

Name: Spondyloperipheral Dysplasia 54 50 24 25 71 29 13
Spondyloperipheral Dysplasia with Short Ulna 50 25
Spd 25 71
Spondyloperipheral Dysplasia-Short Ulna Syndrome 56
Spondyloperipheral Dysplasia Short Ulna 69

Characteristics:

Orphanet epidemiological data:

56
spondyloperipheral dysplasia-short ulna syndrome
Inheritance: Autosomal dominant;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
spondyloperipheral dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 271700
Orphanet 56 ORPHA1856
MESH via Orphanet 43 C535799
UMLS via Orphanet 70 C0796173
ICD10 via Orphanet 34 Q77.7
MedGen 40 C0796173

Summaries for Spondyloperipheral Dysplasia

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.

MalaCards based summary : Spondyloperipheral Dysplasia, also known as spondyloperipheral dysplasia with short ulna, is related to synpolydactyly 1 and synpolydactyly, and has symptoms including short stature, platyspondyly and pectus carinatum. An important gene associated with Spondyloperipheral Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 Spondyloperipheral dysplasia: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.

Wikipedia : 72 Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is... more...

Description from OMIM: 271700

Related Diseases for Spondyloperipheral Dysplasia

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

(show all 15)
id Related Disease Score Top Affiliating Genes
1 synpolydactyly 1 11.6
2 synpolydactyly 11.1
3 isolated delta-storage pool disease 10.9
4 schizoid personality disorder 10.8
5 synpolydactyly 3 10.8
6 synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 10.8
7 status epilepticus 10.0
8 brachydactyly 10.0
9 skeletal dysplasias 9.9
10 skeletal dysplasia 9.9
11 pancreatitis 9.7
12 lung cancer 9.7
13 cystic echinococcosis 9.7
14 echinococcosis 9.7
15 hermansky-pudlak syndrome 9.7

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



Diseases related to Spondyloperipheral Dysplasia

Symptoms & Phenotypes for Spondyloperipheral Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Face:
midface hypoplasia
'pugilistic facies'

Chest- External Features:
pectus carinatum
barrel-shaped chest

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

Skeletal:
spondyloepiphyseal dysplasia

Skeletal- Spine:
kyphosis
platyspondyly, mild
biconcave disc (fish-mouth vertebrae)

Head And Neck- Ears:
hearing loss, sensorineural

Skeletal- Hands:
short fingers
cone-shaped epiphyses
broad hands
very short distal phalanges (2nd, 3rd, 4th, 5th)
short metacarpals (2nd, 3rd, 4th, 5th)
more
Skeletal- Limbs:
limited elbow extension
short ulna
absent styloid processes

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


Clinical features from OMIM:

271700

Human phenotypes related to Spondyloperipheral Dysplasia:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000926
3 pectus carinatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000768
4 micromelia 56 32 frequent (33%) Frequent (79-30%) HP:0002983
5 short metacarpal 56 32 hallmark (90%) Very frequent (99-80%) HP:0010049
6 type e brachydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0005863
7 cone-shaped epiphysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0010579
8 limitation of joint mobility 56 32 frequent (33%) Frequent (79-30%) HP:0001376
9 abnormality of pelvic girdle bone morphology 56 32 frequent (33%) Frequent (79-30%) HP:0002644
10 hypoplasia of the ulna 56 32 frequent (33%) Frequent (79-30%) HP:0003022
11 abnormality of vertebral epiphysis morphology 56 32 frequent (33%) Frequent (79-30%) HP:0100734
12 kyphosis 32 HP:0002808
13 midface retrusion 32 HP:0011800
14 flat acetabular roof 32 HP:0003180
15 limited elbow extension 32 HP:0001377
16 barrel-shaped chest 32 HP:0001552
17 spondyloepiphyseal dysplasia 32 HP:0002655
18 short thumb 32 HP:0009778
19 sensorineural hearing impairment 32 HP:0000407
20 malar flattening 32 HP:0000272
21 acetabular spurs 32 HP:0010454
22 broad thumb 32 HP:0011304
23 short metatarsal 32 HP:0010743
24 abnormality of the metaphyses 56 Very frequent (99-80%)
25 short foot 32 HP:0001773
26 short toe 32 HP:0001831
27 brachydactyly syndrome 56 Very frequent (99-80%)
28 short distal phalanx of finger 32 HP:0009882
29 broad palm 32 HP:0001169
30 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
31 flat capital femoral epiphysis 32 HP:0003370
32 shortening of all middle phalanges of the fingers 32 HP:0006110
33 short distal phalanx of the 5th finger 32 HP:0004227
34 shortening of all proximal phalanges of the fingers 32 HP:0006144
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
40 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

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:

id Genetic test Affiliating Genes
1 Spondyloperipheral Dysplasia 29 24 COL2A1

Anatomical Context for Spondyloperipheral Dysplasia

MalaCards organs/tissues related to Spondyloperipheral Dysplasia:

39
Bone

Publications for Spondyloperipheral Dysplasia

Articles related to Spondyloperipheral Dysplasia:

id Title Authors Year
1
Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. ( 23545312 )
2013
2
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. ( 22495950 )
2012
3
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. ( 21356074 )
2011
4
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. ( 15316962 )
2004
5
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly. ( 11200993 )
2001
6
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. ( 8723097 )
1996
7
Spondyloperipheral dysplasia. ( 8588574 )
1995
8
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. ( 104811 )
1979

Variations for Spondyloperipheral Dysplasia

ClinVar genetic disease variations for Spondyloperipheral Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 COL2A1, 5-BP DUP duplication Pathogenic
2 COL2A1 NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Pathogenic/Likely pathogenic rs121912886 GRCh37 Chromosome 12, 48367873: 48367873
3 COL2A1 NM_001844.4(COL2A1): c.4172A> G (p.Tyr1391Cys) single nucleotide variant Pathogenic rs121912889 GRCh37 Chromosome 12, 48368017: 48368017
4 COL2A1 COL2A1, 1-BP DEL, 4337G deletion Pathogenic
5 COL2A1 NM_001844.4(COL2A1): c.4314C> A (p.Cys1438Ter) single nucleotide variant Pathogenic rs121912890 GRCh37 Chromosome 12, 48367875: 48367875
6 COL2A1 NM_001844.4(COL2A1): c.1420-2A> C single nucleotide variant Pathogenic rs794727377 GRCh37 Chromosome 12, 48380228: 48380228
7 COL2A1 NM_001844.4(COL2A1): c.2600G> T (p.Gly867Val) single nucleotide variant Likely pathogenic rs886042849 GRCh37 Chromosome 12, 48374362: 48374362

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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