PLSDT
MCID: PLT026
MIFTS: 43

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (PLSDT)

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

Aliases & Classifications for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

MalaCards integrated aliases for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

Name: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 57 12 43 58 44 70
Plsd-T 12 43 58 72
Platyspondylic Skeletal Dysplasia, Torrance Type 57 43 13
Platyspondylic Dysplasia, Torrance Type 58 29 6
Plsdt 57 12 20
Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type 57 12
Platyspondylic Lethal Skeletal Dysplasia Torrance Type 20 72
Platyspondylic Dysplasia, Torrance-Luton Type 12 58
Thanatophoric Dysplasia, Torrance Variant 57 12
Torrance Type Platyspondylic Dysplasia 12 15
Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type 20
Platyspondylic Chondrodysplasia, Torrance-Luton Type 43
Dysplasia, Skeletal, Platyspondylic, Torrance Type 39
Thanatophoric Dysplasia Torrance Variant 20
Plsd-Tl 43

Characteristics:

Orphanet epidemiological data:

58
platyspondylic dysplasia, torrance type
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM®:

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

Miscellaneous:
luton and torrance type differentiated based on histologic findings in cartilage


HPO:

31
platyspondylic lethal skeletal dysplasia, torrance type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111508
OMIM® 57 151210
MeSH 44 C563627
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 71 C1835437
Orphanet 58 ORPHA85166
UMLS 70 C1835437

Summaries for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

MedlinePlus Genetics : 43 Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). Infants with this condition are born with a small chest with short ribs that can restrict the growth and expansion of the lungs.As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with platyspondylic lethal skeletal dysplasia, Torrance type usually die at birth or shortly thereafter from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood.

MalaCards based summary : Platyspondylic Lethal Skeletal Dysplasia, Torrance Type, also known as plsd-t, is related to skeletal dysplasias and odontochondrodysplasia. An important gene associated with Platyspondylic Lethal Skeletal Dysplasia, Torrance Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Relaxin signaling pathway and Degradation of the extracellular matrix. Affiliated tissues include bone and endothelial, and related phenotypes are skeletal dysplasia and short thorax

Disease Ontology : 12 An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has material basis in heterozygous mutation in COL2A1 on chromosome 12q13.11.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85166 Definition Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

OMIM® : 57 The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005). (151210) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Platyspondylic lethal skeletal dysplasia Torrance type: Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported.

Wikipedia : 73 Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with... more...

Related Diseases for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Diseases related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 30.6 COMP COL2A1
2 odontochondrodysplasia 29.4 SERPINH1 CREB3L1 COMP COL2A1 COL10A1
3 brachydactyly 10.5
4 spondyloperipheral dysplasia 10.4
5 thanatophoric dysplasia, type i 10.3
6 type ii collagen disorders 10.3
7 metaphyseal dysplasia 10.2 COL2A1 COL10A1
8 coxa vara 10.1 COL2A1 COL10A1
9 progressive pseudorheumatoid dysplasia 10.1 COL2A1 COL10A1
10 metachondromatosis 10.1 COL2A1 COL10A1
11 acromesomelic dysplasia 10.1 COL2A1 COL10A1
12 campomelic dysplasia 10.0 COL2A1 COL10A1
13 achondroplasia 9.9 COMP COL2A1
14 patella, chondromalacia of 9.9 COMP COL2A1
15 osteochondrosis 9.8 COMP COL2A1
16 dentinogenesis imperfecta 9.8 SERPINH1 CREB3L1
17 diastrophic dysplasia 9.8 COMP COL2A1
18 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8 COMP COL2A1
19 spondyloepiphyseal dysplasia congenita 9.7 COMP COL2A1 COL10A1
20 cartilage disease 9.7 COMP COL2A1 COL10A1
21 achondrogenesis, type ii 9.7 COMP COL2A1 COL10A1
22 achondrogenesis 9.7 COMP COL2A1 COL10A1
23 multiple epiphyseal dysplasia 9.7 COMP COL2A1 COL10A1
24 pseudoachondroplasia 9.7 HSP90B1 COMP COL2A1
25 osteogenesis imperfecta, type iii 9.7 SERPINH1 CREB3L1
26 osteoarthritis 9.7 COMP COL2A1 COL10A1
27 bone disease 9.6 COMP COL2A1 COL10A1
28 scoliosis 9.5 COMP COL2A1 COL10A1
29 bone development disease 9.4 SERPINH1 COMP COL2A1 COL10A1
30 spondyloepimetaphyseal dysplasia, strudwick type 9.3 INA CREB3L3 CREB3L1 COL2A1 COL10A1
31 brittle bone disorder 9.2 SERPINH1 CREB3L1 COMP COL2A1 COL10A1

Graphical network of the top 20 diseases related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:



Diseases related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Symptoms & Phenotypes for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Human phenotypes related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
3 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
5 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
7 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
8 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
9 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
10 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
11 abnormality of the carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001191
12 hypoplastic pelvis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008839
13 metaphyseal cupping 58 31 hallmark (90%) Very frequent (99-80%) HP:0003021
14 hypoplasia of the capital femoral epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003090
15 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
16 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
17 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
18 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
19 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
20 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
21 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
22 hypoplastic scapulae 58 31 frequent (33%) Frequent (79-30%) HP:0000882
23 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
24 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
25 macrocephaly 31 HP:0000256
26 short neck 31 HP:0000470
27 coarse facial features 31 HP:0000280
28 bowing of the long bones 58 Very frequent (99-80%)
29 neonatal short-limb short stature 31 HP:0008921
30 hypoplastic pubic bone 31 HP:0003173
31 hypoplastic ischia 31 HP:0003175
32 thin ribs 31 HP:0000883
33 protuberant abdomen 31 HP:0001538
34 short long bone 31 HP:0003026
35 short ribs 31 HP:0000773
36 hypoplastic ilia 31 HP:0000946
37 flat acetabular roof 31 HP:0003180
38 lethal skeletal dysplasia 31 HP:0005716
39 abnormality of the abdominal wall 31 HP:0004298
40 severe platyspondyly 31 HP:0004565
41 disc-like vertebral bodies 31 HP:0004591
42 decreased cranial base ossification 31 HP:0005451
43 severe limb shortening 31 HP:0200083

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Chest External Features:
narrow chest

Abdomen External Features:
protuberant abdomen

Skeletal Spine:
disc-like vertebral bodies
platyspondyly, extreme

Head And Neck Face:
coarse facies

Chest Ribs Sternum Clavicles And Scapulae:
short, thin ribs

Head And Neck Neck:
short neck

Skeletal Limbs:
hypoplastic ischia
hypoplastic ilia
metaphyseal cupping
severe limb shortening
short, tubular long bones
more
Skeletal Pelvis:
flat acetabular roof
hypoplastic, wide sacrosciatic notches

Skeletal Skull:
decreased cranial base ossification

Growth Height:
dwarfism, neonatal short-limbed

Skeletal:
luton type - hypercellular resting cartilage, normal and large cells, normal column formation, focal degenerating chondrocyte incorporation and focal disorganization
torrance type - hypercellular resting cartilage, large cells, normal growth plate

Clinical features from OMIM®:

151210 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 COL10A1 COL2A1 COMP SERPINH1

Drugs & Therapeutics for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Search Clinical Trials , NIH Clinical Center for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Cochrane evidence based reviews: platyspondylic lethal skeletal dysplasia, torrance type

Genetic Tests for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Genetic tests related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

# Genetic test Affiliating Genes
1 Platyspondylic Dysplasia, Torrance Type 29 COL2A1

Anatomical Context for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

MalaCards organs/tissues related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

40
Bone, Endothelial

Publications for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Articles related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

(show all 14)
# Title Authors PMID Year
1
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. 6 57
14729840 2004
2
Czech dysplasia metatarsal type: another type II collagen disorder. 6 61
17726487 2007
3
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 57
15643621 2005
4
Czech dysplasia metatarsal type. 6
15266623 2004
5
Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. 57
12961049 2003
6
Survival and dominant transmission of "lethal" platyspondylic dwarfism of the "West coast" types. 57
10700704 2000
7
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 57
10360402 1999
8
Lethal, neonatal, short-limbed platyspondylic dwarfism. A further variant? 57
7173874 1982
9
Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. 57
448481 1979
10
Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line. 61
26545783 2015
11
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
12
Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents. 61
22711552 2012
13
ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type. 61
21538020 2011
14
Vascular endothelial growth factor in diabetic and nondiabetic canine cataract patients. 61
21366824 2011

Variations for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

ClinVar genetic disease variations for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) SNV Pathogenic 17389 rs121912889 GRCh37: 12:48368017-48368017
GRCh38: 12:47974234-47974234
2 COL2A1 NM_001844.5(COL2A1):c.4413_4416del (p.Gly1472fs) Deletion Pathogenic 17390 rs1592192920 GRCh37: 12:48367238-48367241
GRCh38: 12:47973455-47973458
3 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
4 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
5 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
6 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
7 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437
8 COL2A1 NM_001844.5(COL2A1):c.3943T>G (p.Cys1315Gly) SNV not provided 143247 rs527236144 GRCh37: 12:48368589-48368589
GRCh38: 12:47974806-47974806

UniProtKB/Swiss-Prot genetic disease variations for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

72
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Tyr1391Cys VAR_023935 rs121912889
2 COL2A1 p.Thr1390Asn VAR_024822
3 COL2A1 p.Thr1448Pro VAR_024823
4 COL2A1 p.Asp1469His VAR_024824
5 COL2A1 p.Cys1485Gly VAR_024826

Expression for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Search GEO for disease gene expression data for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type.

Pathways for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

GO Terms for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Cellular components related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.72 SERPINH1 INA COMP COL2A1 COL10A1
2 extracellular matrix GO:0031012 9.43 COMP COL2A1 COL10A1
3 collagen trimer GO:0005581 9.33 SERPINH1 COL2A1 COL10A1
4 endoplasmic reticulum lumen GO:0005788 9.26 SERPINH1 HSP90B1 COL2A1 COL10A1
5 collagen-containing extracellular matrix GO:0062023 9.02 SERPINH1 HSP90B1 COMP COL2A1 COL10A1

Biological processes related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.5 COMP COL2A1 COL10A1
2 skeletal system development GO:0001501 9.43 COMP COL2A1 COL10A1
3 cartilage development GO:0051216 9.4 COMP COL2A1
4 endoplasmic reticulum unfolded protein response GO:0030968 9.37 CREB3L3 CREB3L1
5 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.16 CREB3L3 CREB3L1
6 collagen fibril organization GO:0030199 9.13 SERPINH1 COMP COL2A1
7 response to unfolded protein GO:0006986 8.92 SERPINH1 CREB3L3 CREB3L1 COMP

Molecular functions related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.32 SERPINH1 COMP
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL2A1 COL10A1
3 cAMP response element binding GO:0035497 9.16 CREB3L3 CREB3L1
4 proteoglycan binding GO:0043394 8.96 COMP COL2A1
5 extracellular matrix structural constituent GO:0005201 8.8 COMP COL2A1 COL10A1

Sources for Platyspondylic Lethal Skeletal Dysplasia, Torrance 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
Content
Loading form....