MCID: PLT014
MIFTS: 30

Platyspondylic Skeletal Dysplasia, Torrance Type

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

Aliases & Classifications for Platyspondylic Skeletal Dysplasia, Torrance Type

MalaCards integrated aliases for Platyspondylic Skeletal Dysplasia, Torrance Type:

Name: Platyspondylic Skeletal Dysplasia, Torrance Type 54 25 13
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 24 25 56 69
Platyspondylic Lethal Skeletal Dysplasia Torrance Type 50 71 29
Plsd-T 25 56 71
Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type 50
Platyspondylic Chondrodysplasia, Torrance-Luton Type 25
Platyspondylic Dysplasia, Torrance-Luton Type 56
Thanatophoric Dysplasia, Torrance Variant 24
Thanatophoric Dysplasia Torrance Variant 50
Platyspondylic Dysplasia, Torrance Type 56
Thanatophoric Dysplasia, Luton Variant 29
Thanatophoric Dysplasia, Luton Type 24
Plsd-Tl 25
Plsdt 50

Characteristics:

Orphanet epidemiological data:

56
platyspondylic dysplasia, torrance type
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
platyspondylic skeletal dysplasia, torrance type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Platyspondylic Skeletal Dysplasia, Torrance Type

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 85166disease definitionplatyspondylic 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 dominanttrait 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.visit the orphanet disease page for more resources. last updated: 6/22/2007

MalaCards based summary : Platyspondylic Skeletal Dysplasia, Torrance Type, also known as platyspondylic lethal skeletal dysplasia, torrance type, is related to skeletal dysplasias and skeletal dysplasia, and has symptoms including low-set ears, depressed nasal bridge and prominent forehead. An important gene associated with Platyspondylic Skeletal Dysplasia, Torrance Type is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone and lung.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 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.

Description from OMIM: 151210

Related Diseases for Platyspondylic Skeletal Dysplasia, Torrance Type

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

id Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 10.2
2 skeletal dysplasia 10.2

Symptoms & Phenotypes for Platyspondylic Skeletal Dysplasia, Torrance Type

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
coarse facies

Chest- External Features:
narrow chest

Chest- Ribs Sternum Clavicles And Scapulae:
short, thin ribs

Skeletal- Limbs:
hypoplastic ilia
hypoplastic ischia
metaphyseal cupping
hypoplastic pubis
severe limb shortening
more
Growth- Height:
dwarfism, neonatal short-limbed

Skeletal- Skull:
decreased cranial base ossification

Head And Neck- Neck:
short neck

Head And Neck- Head:
macrocephaly

Abdomen- External Features:
protuberant abdomen

Skeletal- Pelvis:
flat acetabular roof
hypoplastic, wide sacrosciatic notches

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

Skeletal- Spine:
platyspondyly, extreme
disc-like vertebral bodies


Clinical features from OMIM:

151210

Human phenotypes related to Platyspondylic Skeletal Dysplasia, Torrance Type:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
2 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
3 prominent forehead 56 32 frequent (33%) Frequent (79-30%) HP:0011220
4 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000926
5 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 pulmonary hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002089
7 polyhydramnios 56 32 frequent (33%) Frequent (79-30%) HP:0001561
8 genu varum 56 32 frequent (33%) Frequent (79-30%) HP:0002970
9 narrow chest 56 32 hallmark (90%) Very frequent (99-80%) HP:0000774
10 hypoplastic scapulae 56 32 frequent (33%) Frequent (79-30%) HP:0000882
11 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
12 hydrops fetalis 56 32 frequent (33%) Frequent (79-30%) HP:0001789
13 abdominal distention 56 32 hallmark (90%) Very frequent (99-80%) HP:0003270
14 malar flattening 56 32 frequent (33%) Frequent (79-30%) HP:0000272
15 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
16 metaphyseal cupping 56 32 hallmark (90%) Very frequent (99-80%) HP:0003021
17 short thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0010306
18 hypoplastic pelvis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008839
19 short palm 56 32 hallmark (90%) Very frequent (99-80%) HP:0004279
20 short foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001773
21 disproportionate short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008873
22 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
23 abnormality of the carpal bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0001191
24 hypoplasia of the capital femoral epiphysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003090
25 coarse facial features 32 HP:0000280
26 thin ribs 32 HP:0000883
27 short ribs 32 HP:0000773
28 short neck 32 HP:0000470
29 macrocephaly 32 HP:0000256
30 protuberant abdomen 32 HP:0001538
31 hypoplastic ilia 32 HP:0000946
32 hypoplastic ischia 32 HP:0003175
33 hypoplastic pubic bone 32 HP:0003173
34 flat acetabular roof 32 HP:0003180
35 severe platyspondyly 32 HP:0004565
36 bowing of the long bones 56 Very frequent (99-80%)
37 decreased cranial base ossification 32 HP:0005451
38 disc-like vertebral bodies 32 HP:0004591
39 severe limb shortening 32 HP:0200083
40 lethal skeletal dysplasia 32 HP:0005716
41 short long bone 32 HP:0003026
42 neonatal short-limb short stature 32 HP:0008921
43 limb undergrowth 32 HP:0009826
44 abnormality of the abdominal wall 32 HP:0004298

Drugs & Therapeutics for Platyspondylic Skeletal Dysplasia, Torrance Type

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

Genetic Tests for Platyspondylic Skeletal Dysplasia, Torrance Type

Genetic tests related to Platyspondylic Skeletal Dysplasia, Torrance Type:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia, Luton Variant 29
2 Platyspondylic Lethal Skeletal Dysplasia Torrance Type 29
3 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 24 COL2A1

Anatomical Context for Platyspondylic Skeletal Dysplasia, Torrance Type

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

39
Bone, Lung

Publications for Platyspondylic Skeletal Dysplasia, Torrance Type

Articles related to Platyspondylic Skeletal Dysplasia, Torrance Type:

id Title Authors Year
1
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. ( 14729840 )
2004

Variations for Platyspondylic Skeletal Dysplasia, Torrance Type

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

71
id 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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.4172A> G (p.Tyr1391Cys) single nucleotide variant Pathogenic rs121912889 GRCh37 Chromosome 12, 48368017: 48368017
2 COL2A1 COL2A1, 4-BP DEL, 4413AGGG deletion Pathogenic
3 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh37 Chromosome 12, 48378812: 48378812
4 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh37 Chromosome 12, 48367204: 48367207
5 COL2A1 NM_001844.4(COL2A1): c.1340G> A (p.Gly447Asp) single nucleotide variant Likely pathogenic rs886043561 GRCh37 Chromosome 12, 48380886: 48380886

Expression for Platyspondylic Skeletal Dysplasia, Torrance Type

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

Pathways for Platyspondylic Skeletal Dysplasia, Torrance Type

GO Terms for Platyspondylic Skeletal Dysplasia, Torrance Type

Sources for Platyspondylic Skeletal Dysplasia, Torrance Type

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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