MCID: PLT026
MIFTS: 28

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 25 59 73
Platyspondylic Lethal Skeletal Dysplasia Torrance Type 53 75 29 6
Platyspondylic Skeletal Dysplasia, Torrance Type 57 25 13
Plsd-T 25 59 75
Plsdt 57 53
Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type 57
Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type 53
Platyspondylic Chondrodysplasia, Torrance-Luton Type 25
Dysplasia, Skeletal, Platyspondylic, Torrance Type 40
Platyspondylic Dysplasia, Torrance-Luton Type 59
Thanatophoric Dysplasia, Torrance Variant 57
Thanatophoric Dysplasia Torrance Variant 53
Platyspondylic Dysplasia, Torrance Type 59
Plsd-Tl 25

Characteristics:

Orphanet epidemiological data:

59
platyspondylic dysplasia, torrance type
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

NIH Rare Diseases : 53 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.

MalaCards based summary : Platyspondylic Lethal Skeletal Dysplasia, Torrance Type, also known as platyspondylic lethal skeletal dysplasia torrance type, is related to skeletal dysplasias. An important gene associated with Platyspondylic Lethal Skeletal Dysplasia, Torrance Type is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone and lung, and related phenotypes are cleft palate and malar flattening

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with... more...

Description from OMIM: 151210

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:

# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 10.5

Symptoms & Phenotypes for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Chest External Features:
narrow chest

Skeletal Limbs:
hypoplastic ischia
hypoplastic ilia
metaphyseal cupping
severe limb shortening
short, tubular long bones
more
Head And Neck Face:
coarse facies

Chest Ribs Sternum Clavicles And Scapulae:
short, thin ribs

Skeletal Skull:
decreased cranial base ossification

Head And Neck Neck:
short neck

Skeletal Pelvis:
flat acetabular roof
hypoplastic, wide sacrosciatic notches

Abdomen External Features:
protuberant abdomen

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

Skeletal Spine:
platyspondyly, extreme
disc-like vertebral bodies


Clinical features from OMIM:

151210

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

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
5 hypoplastic scapulae 59 32 frequent (33%) Frequent (79-30%) HP:0000882
6 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
7 abnormality of the carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001191
8 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
9 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
10 hydrops fetalis 59 32 frequent (33%) Frequent (79-30%) HP:0001789
11 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002089
12 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
13 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
14 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
15 metaphyseal cupping 59 32 hallmark (90%) Very frequent (99-80%) HP:0003021
16 hypoplasia of the capital femoral epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003090
17 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
18 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
19 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
20 hypoplastic pelvis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008839
21 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
22 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
23 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
24 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
25 bowing of the long bones 59 Very frequent (99-80%)
26 macrocephaly 32 HP:0000256
27 coarse facial features 32 HP:0000280
28 short neck 32 HP:0000470
29 short ribs 32 HP:0000773
30 thin ribs 32 HP:0000883
31 hypoplastic ilia 32 HP:0000946
32 protuberant abdomen 32 HP:0001538
33 short long bone 32 HP:0003026
34 hypoplastic pubic bone 32 HP:0003173
35 hypoplastic ischia 32 HP:0003175
36 flat acetabular roof 32 HP:0003180
37 abnormality of the abdominal wall 32 HP:0004298
38 severe platyspondyly 32 HP:0004565
39 disc-like vertebral bodies 32 HP:0004591
40 decreased cranial base ossification 32 HP:0005451
41 lethal skeletal dysplasia 32 HP:0005716
42 neonatal short-limb short stature 32 HP:0008921
43 severe limb shortening 32 HP:0200083

Drugs & Therapeutics for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Search Clinical Trials , NIH Clinical Center for 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 Lethal Skeletal 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:

41
Bone, Lung

Publications for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Articles related to Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:

# Title Authors Year
1
Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line. ( 26545783 )
2015
2
ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type. ( 21538020 )
2011
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. ( 15643621 )
2005

Variations for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

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

75
# 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 Lethal Skeletal Dysplasia, Torrance Type:

6
# 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 NM_001844.4(COL2A1): c.4172A> G (p.Tyr1391Cys) single nucleotide variant Pathogenic rs121912889 GRCh38 Chromosome 12, 47974234: 47974234
3 COL2A1 COL2A1, 4-BP DEL, 4413AGGG deletion Pathogenic
4 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh37 Chromosome 12, 48378812: 48378812
5 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh38 Chromosome 12, 47985029: 47985029
6 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh37 Chromosome 12, 48367204: 48367207
7 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh38 Chromosome 12, 47973421: 47973424
8 COL2A1 NM_001844.4(COL2A1): c.1340G> A (p.Gly447Asp) single nucleotide variant Likely pathogenic rs886043561 GRCh37 Chromosome 12, 48380886: 48380886
9 COL2A1 NM_001844.4(COL2A1): c.1340G> A (p.Gly447Asp) single nucleotide variant Likely pathogenic rs886043561 GRCh38 Chromosome 12, 47987103: 47987103

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

Sources for Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

3 CDC
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11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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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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