Thanatophoric Dysplasia (Dwarfism, Thanatophoric)

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75 relevant articles (0 outcomes, 4 trials/studies) found for this Disease

Description: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.

Also Known As:

Dwarfism, Thanatophoric; Thanatophoric Dwarfism; Dwarfisms, Thanatophoric; Dysplasia, Thanatophoric; Dysplasias, Thanatophoric; Thanatophoric Dwarfisms; Thanatophoric Dysplasias

Disease Context: Research Results

Musculoskeletal Diseases: 83

Bone Diseases: 2383

Developmental Bone Diseases: 63

Dwarfism: 681

Thanatophoric Dysplasia: 75

Osteochondrodysplasias: 374

Thanatophoric Dysplasia: 75

Musculoskeletal Abnormalities: 17

Congenital Limb Deformities: 4

Thanatophoric Dysplasia: 75

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 422

Congenital Abnormalities: 9332

Musculoskeletal Abnormalities: 17

Congenital Limb Deformities: 4

Thanatophoric Dysplasia: 75

Diseases Newborn Infant

Thanatophoric Dysplasia: 75

Related Diseases

1.	Achondroplasia
2.	Syndrome
3.	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
4.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
5.	Chondrodysplasia Punctata (Stippled Epiphyses)

Experts

1.	Kawai, Toshiaki: 1 article (04/2004)
2.	Nakanishi, Kuniaki: 1 article (04/2004)
3.	Morita, Mitsuhiro: 1 article (04/2004)
4.	Fujikawa, Kyosuke: 1 article (04/2004)
5.	Liboi, Elio: 1 article (05/2003)
6.	Lievens, Patricia M-J: 1 article (05/2003)
7.	Chern, Schu-Rern: 1 article (08/2002)
8.	Chen, Chih-Ping: 1 article (08/2002)
9.	Tzen, Chin-Yuan: 1 article (08/2002)
10.	Wang, Wayseen: 1 article (08/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Thanatophoric Dysplasia:

1.	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 06/01/2007 - "Recurrent missense fibroblast growth factor receptor 3 (FGFR3) mutations have been ascribed to skeletal dysplasias of variable severity including the lethal neonatal thanatophoric dysplasia types I (TDI) and II (TDII)" 11/01/2003 - "Recently, mutations in the fibroblast growth factor receptor 3 gene, located on the short arm of chromosome 4 have been identified as a cause of thanatophoric dysplasia" 11/15/2001 - "BACKGROUND: The point mutations of fibroblast growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal disorders such as thanatophoric dysplasia (TD)" 01/01/2001 - "There are two major subtypes: a short, curved femur characterizes type I, and a straighter femur with cloverleaf skull characterizes type II. Recently, mutations in the fibroblast growth factor receptor 3 (FGFR-3) gene have been identified in both subtypes, which suggest that thanatophoric dysplasia is a genetically homogenous skeletal disorder" 03/01/1999 - "We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1)" Order ALL the reference details at left...
2.	Messenger RNA (mRNA)IBA 01/01/1999 - "In vivo, we found that E6-AChE mRNA levels rose following midgestation in normally differentiating, postproliferative fetal chondrocytes but not in the osteogenically impaired chondrocytes of dwarf fetuses with thanatophoric dysplasia" 01/01/2003 - "In the present study, we analyzed apoptosis using a chondrogenic cell line, ATDC5, expressing the FGFR3 mutants causing ACH and thanatophoric dysplasia, which is a more severe neonatal lethal form comprising type I and type II. We found that the introduction of these mutated FGFR3s into ATDC5 cells decreased mRNA expression of parathyroid hormone-related peptide (PTHrP) and induced apoptosis" 04/01/2004 - "In thanatophoric dysplasia, telomere length and telomerase activity were short and low, respectively, compared with those of normal growth plates at an equivalent age, and expression of hTERT mRNA was negative or weakly positive in all 4 zones within growth plates" 04/01/2004 - "Telomere length, telomerase activity, and expression of human telomerase reverse transcriptase mRNA in growth plate of epiphyseal articular cartilage in femoral head during normal human development and in thanatophoric dysplasia." Order ALL the reference details at left...
3.	Proteoglycans (Proteoglycan)IBA 01/01/1991 - "Reactivity is seen with proteoglycans extracted from human articular cartilage of various ages (fetal, newborn, young and aged) and with proteoglycans extracted from cartilage of thanatophoric dysplasia and homozygous achondroplasia" 08/01/1994 - "Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrome, dyssegmental dysplasia, Ehlers-Danlos syndrome types I and III, Ellis van Creveld syndrome and thanatophoric dysplasia, though no additional sequence variations were detected." Order ALL the reference details at left...
4.	Fibroblast Growth Factor 3IBA 01/01/2000 - "Recent studies have found that mutations in the receptor for fibroblast growth factor 3 (FGFR3) cause achondroplasia, hypochondroplasia and thanatophoric dysplasia" Order ALL the reference details at left...
5.	Parathyroid Hormone-Related ProteinIBA 01/01/2003 - "In the present study, we analyzed apoptosis using a chondrogenic cell line, ATDC5, expressing the FGFR3 mutants causing ACH and thanatophoric dysplasia, which is a more severe neonatal lethal form comprising type I and type II. We found that the introduction of these mutated FGFR3s into ATDC5 cells decreased mRNA expression of parathyroid hormone-related peptide (PTHrP) and induced apoptosis" Order ALL the reference details at left...
6.	Phosphotransferases (Kinase)IBA 01/01/2008 - "We have previously shown that the increased kinase activity associated with FGFR3 bearing the thanatophoric dysplasia type II (TDII) mutation hampers its maturation, enabling the receptor to signal from the endoplasmic reticulum" 10/01/1997 - "We have previously determined that the Lys650-->Glu mutation in the activation loop of the kinase domain of FGFR3, which is responsible for the lethal skeletal dysplasia thanatophoric dyplasia type II (TDII), greatly enhances the ligand-independent kinase activity of the receptor" 07/06/2000 - "Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas" 08/01/1996 - "Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3)" 08/01/1996 - "Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II." Order ALL the reference details at left...
7.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 06/01/1998 - "Similarly, activating FGF receptor 3 mutations impair growth in achondroplasia and thanatophoric dysplasia" 05/01/1997 - "Mutations in the fibroblast growth factor receptor (FGFR) gene family recently have been shown to underlie several hereditary disorders of bone development, with specific FGFR3 mutations causing achondroplasia (Ach) and thanatophoric dysplasia (TD)" 03/20/1997 - "Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism." 08/01/2006 - "Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin" 03/20/1997 - "The achondroplasia class of chondrodysplasias comprises the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), which are caused by different mutations in a fibroblast growth-factor receptor FGFR3 (ref" Order ALL the reference details at left...
8.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 05/03/1996 - "In thanatophoric dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor was originally detected in 100% of TD II cases, our series seven distinct mutations in three different protein domains were identified in 25 of 26 TD I patients, suggesting that TD, like achondroplasia, is a genetically homogenous skeletal disorder." 05/09/2003 - "The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII)" 01/01/1998 - "Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199" 07/02/1999 - "Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis." 12/01/2000 - "Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met])" Order ALL the reference details at left...
9.	Codon (Codons)IBA 12/01/2002 - "The K650/652T mutation has not previously been detected in patients with skeletal disorders, but affects a codon that has been shown to be affected in some cases of thanatophoric dysplasia, SADDAN and hypochondroplasia" 08/01/2002 - "Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings." 05/01/1995 - "Stop codon FGFR3 mutations in thanatophoric dwarfism type 1." 07/02/1999 - "Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis." 12/01/2000 - "Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met])" Order ALL the reference details at left...
10.	Cysteine (L-Cysteine)FDA Link 04/01/1996 - "Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)." 11/01/1995 - "Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I." 05/01/2002 - "One such disorder, thanatophoric dysplasia, the most common form of sporadic, lethal dwarfism, is associated frequently with cysteine substitutions (G370C, S371C, and Y373C) in the extracellular juxtamembrane region of the receptor" Order ALL the reference details at left...

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