MCID: SPN154
MIFTS: 30

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 57 53 25 75 29 13 6
Spondyloperipheral Dysplasia with Short Ulna 57 53 25
Spd 25 75
Spondyloperipheral Dysplasia-Short Ulna Syndrome 59
Spondyloperipheral Dysplasia Short Ulna 73
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
Orphanet 59 ORPHA1856
MESH via Orphanet 45 C535799
UMLS via Orphanet 74 C0796173
ICD10 via Orphanet 34 Q77.7
MedGen 42 C0796173
UMLS 73 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 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 pectus carinatum and short stature

UniProtKB/Swiss-Prot : 75 Spondyloperipheral dysplasia: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.

Wikipedia : 76 Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is... more...

Description from OMIM: 271700

Related Diseases for Spondyloperipheral Dysplasia

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:

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

Human phenotypes related to Spondyloperipheral Dysplasia:

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

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:

# 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
(show all 16)
# 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 Likely pathogenic rs121912886 GRCh37 Chromosome 12, 48367873: 48367873
3 COL2A1 NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Likely pathogenic rs121912886 GRCh38 Chromosome 12, 47974090: 47974090
4 COL2A1 NM_001844.4(COL2A1): c.4172A> G (p.Tyr1391Cys) single nucleotide variant Pathogenic rs121912889 GRCh37 Chromosome 12, 48368017: 48368017
5 COL2A1 NM_001844.4(COL2A1): c.4172A> G (p.Tyr1391Cys) single nucleotide variant Pathogenic rs121912889 GRCh38 Chromosome 12, 47974234: 47974234
6 COL2A1 COL2A1, 1-BP DEL, 4337G deletion Pathogenic
7 COL2A1 NM_001844.4(COL2A1): c.4314C> A (p.Cys1438Ter) single nucleotide variant Pathogenic rs121912890 GRCh37 Chromosome 12, 48367875: 48367875
8 COL2A1 NM_001844.4(COL2A1): c.4314C> A (p.Cys1438Ter) single nucleotide variant Pathogenic rs121912890 GRCh38 Chromosome 12, 47974092: 47974092
9 COL2A1 NM_001844.4(COL2A1): c.1420-2A> C single nucleotide variant Pathogenic rs794727377 GRCh37 Chromosome 12, 48380228: 48380228
10 COL2A1 NM_001844.4(COL2A1): c.1420-2A> C single nucleotide variant Pathogenic rs794727377 GRCh38 Chromosome 12, 47986445: 47986445
11 COL2A1 NM_001844.4(COL2A1): c.2600G> T (p.Gly867Val) single nucleotide variant Likely pathogenic rs886042849 GRCh37 Chromosome 12, 48374362: 48374362
12 COL2A1 NM_001844.4(COL2A1): c.2600G> T (p.Gly867Val) single nucleotide variant Likely pathogenic rs886042849 GRCh38 Chromosome 12, 47980579: 47980579
13 COL2A1 NM_001844.4(COL2A1): c.4195_4205delTATCTGGACGAinsAGCATTGCC (p.Tyr1399Serfs) indel Pathogenic GRCh37 Chromosome 12, 48367984: 48367994
14 COL2A1 NM_001844.4(COL2A1): c.4195_4205delTATCTGGACGAinsAGCATTGCC (p.Tyr1399Serfs) indel Pathogenic GRCh38 Chromosome 12, 47974201: 47974211
15 COL2A1 NM_001844.4(COL2A1): c.4328delG (p.Gly1443Valfs) deletion Pathogenic GRCh37 Chromosome 12, 48367326: 48367326
16 COL2A1 NM_001844.4(COL2A1): c.4328delG (p.Gly1443Valfs) deletion Pathogenic GRCh38 Chromosome 12, 47973543: 47973543

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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