MCID: LTH050
MIFTS: 14

Lethal Chondrodysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Lethal Chondrodysplasia

MalaCards integrated aliases for Lethal Chondrodysplasia:

Name: Lethal Chondrodysplasia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA93465

Summaries for Lethal Chondrodysplasia

MalaCards based summary: Lethal Chondrodysplasia is related to chondrodysplasia, blomstrand type and lethal chondrodysplasia seller type. An important gene associated with Lethal Chondrodysplasia is FLNB (Filamin B). Affiliated tissues include bone and brain.

Related Diseases for Lethal Chondrodysplasia

Diseases in the Lethal Chondrodysplasia family:

Lethal Recessive Chondrodysplasia

Diseases related to Lethal Chondrodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia, blomstrand type 11.6
2 lethal chondrodysplasia seller type 11.3
3 atelosteogenesis, type i 11.2
4 bone dysplasia, lethal, holmgren type 11.1
5 lethal chondrodysplasia moerman type 11.1
6 chondrodysplasia punctata syndrome 10.2
7 cleft palate, isolated 10.0
8 simpson-golabi-behmel syndrome, type 1 10.0
9 type ii collagen disorders 10.0
10 spondylocostal dysostosis 5 9.9
11 rhizomelic chondrodysplasia punctata, type 1 9.9
12 conotruncal heart malformations 9.9
13 dandy-walker syndrome 9.9
14 smith-lemli-opitz syndrome 9.9
15 opitz gbbb syndrome 9.9
16 chondrodysplasia punctata 2, x-linked dominant 9.9
17 chondrodysplasia, lethal, with long bone angulation and mixed bone density 9.9
18 polydactyly 9.9
19 atrioventricular septal defect 9.9
20 spondylocostal dysostosis 9.9
21 achondrogenesis 9.9
22 x-linked chondrodysplasia punctata 2 9.9
23 respiratory failure 9.9
24 laryngostenosis 9.9
25 telangiectasis 9.9
26 tracheal calcification 9.9
27 ichthyosis 9.9
28 dysostosis 9.9
29 osteochondrodysplasia 9.9
30 rhizomelic chondrodysplasia punctata 9.9
31 situs inversus 9.9
32 akaba hayasaka syndrome 9.9
33 dextrocardia with situs inversus 9.9
34 neuronal migration disorders 9.9
35 short rib-polydactyly syndrome 9.9
36 vaginal atresia 9.9
37 cleft hard palate 9.9

Graphical network of the top 20 diseases related to Lethal Chondrodysplasia:



Diseases related to Lethal Chondrodysplasia

Symptoms & Phenotypes for Lethal Chondrodysplasia

Drugs & Therapeutics for Lethal Chondrodysplasia

Search Clinical Trials, NIH Clinical Center for Lethal Chondrodysplasia

Genetic Tests for Lethal Chondrodysplasia

Anatomical Context for Lethal Chondrodysplasia

Organs/tissues related to Lethal Chondrodysplasia:

MalaCards : Bone, Brain

Publications for Lethal Chondrodysplasia

Articles related to Lethal Chondrodysplasia:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias. 62
36007841 2022
2
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. 62
34057271 2021
3
The master developmental regulator Jab1/Cops5/Csn5 is essential for proper bone growth and survival in mice. 62
33157284 2021
4
Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report. 62
32748967 2020
5
The TGFβ type I receptor TGFβRI functions as an inhibitor of BMP signaling in cartilage. 62
31311865 2019
6
A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan. 62
30305023 2018
7
Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family. 62
29017490 2017
8
Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1. 62
27296271 2016
9
[Pathophysiology of Hypoparathyroidism]. 62
27230838 2016
10
The type I BMP receptor ACVR1/ALK2 is required for chondrogenesis during development. 62
25413979 2015
11
A second family with autosomal recessive spondylometaphyseal dysplasia and early death. 62
24458487 2014
12
The transcriptional co-regulator Jab1 is crucial for chondrocyte differentiation in vivo. 62
23203803 2013
13
Perlecan modulates VEGF signaling and is essential for vascularization in endochondral bone formation. 62
22421594 2012
14
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. 62
20949533 2010
15
[Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia]. 62
20890029 2010
16
In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome. 62
19603067 2010
17
Thanatophoric dysplasia caused by double missense FGFR3 mutations. 62
19449430 2009
18
Rat wild-type parathyroid hormone receptor (PTH-R) and mutant PTH-R(P132L) show the different intracellular localization in vitro. 62
18480546 2008
19
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. 62
17638425 2007
20
Chondroitin sulfate perlecan enhances collagen fibril formation. Implications for perlecan chondrodysplasias. 62
16956876 2006
21
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. 62
16719409 2006
22
PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development. 62
14745975 2003
23
Role of collagen type II and perlecan in skeletal development. 62
12814946 2003
24
Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice. 62
12527136 2003
25
Lethal non-rhizomelic dysplasia epiphysealis punctata. 62
12072802 2002
26
Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development. 62
10912527 2000
27
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. 62
10096601 1999
28
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. 62
9779808 1998
29
Variability of platyspondylic lethal chondrodysplasia: another case report. 62
9689993 1998
30
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis. 62
9759906 1998
31
Chondrodysplasia in Australian Dexter cattle. 62
9578757 1998
32
Atelosteogenesis type 2. 62
9475095 1998
33
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. 62
9399356 1997
34
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 62
9342225 1997
35
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. 62
9268097 1997
36
New form of platyspondylic lethal chondrodysplasia. 62
8989469 1996
37
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. 62
8702490 1996
38
A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density. 62
8818449 1996
39
A new case of fibrochondrogenesis from Spain. 62
8733059 1996
40
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 62
8571951 1996
41
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia. 62
7606319 1995
42
Three-dimensional ultrasound in prenatal diagnosis of skeletal dysplasia. 62
7617580 1995
43
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. 62
8160740 1994
44
Atelosteogenesis type II: sonographic and radiological correlation. 62
1279661 1992
45
[Achondrogenesis. Ultrasonic diagnosis and clinical and anatomopathologic comparison]. 62
1871502 1991
46
Fibrochondrogenesis in male twins at 24 weeks gestation. 62
2012139 1991
47
Ultrastructural abnormalities in bone and calcifying cartilage in two siblings with a newly described recessive lethal chondrodysplasia. 62
2382311 1990
48
Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type". 62
3396596 1988
49
Lethal chondrodysplasia punctata in two siblings. 62
3451425 1987
50
Lethal chondrodysplasia punctata, Conradi Hünermann subtype A, one case. 62
3588407 1987

Variations for Lethal Chondrodysplasia

Expression for Lethal Chondrodysplasia

Search GEO for disease gene expression data for Lethal Chondrodysplasia.

Pathways for Lethal Chondrodysplasia

GO Terms for Lethal Chondrodysplasia

Sources for Lethal Chondrodysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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