DisGeNET - a database of gene-disease associations

THANATOPHORIC DYSPLASIA, TYPE I (disorder), C1868678

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

BEFREE

We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene.

27214123

2016

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

BEFREE

We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN.

25119967

2015

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

BEFREE

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]).

11055896

2000

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

UNIPROT

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

10360402

1999

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

BEFREE

The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approach and overlap those observed in thanatophoric dysplasia, type I.

10377013

1999

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

UNIPROT

Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.

10671061

1998

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

UNIPROT

G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.

9790257

1998

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

UNIPROT

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

8845844

1996

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

UNIPROT

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

8589699

1995

dbSNP:

rs121913105

FGFR3

0.840

GeneticVariation

UNIPROT

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

7773297

1995

dbSNP:

rs121913105

FGFR3

0.840

CausalMutation

CLINVAR

dbSNP:

rs121913105

FGFR3

0.840

CausalMutation

CLINVAR

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

BEFREE

We highlight the theoretical risk of the patient having an offspring with thanatophoric dysplasia as gonadal mosaicism for the R248C mutation cannot be excluded.

21639936

2011

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

BEFREE

Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI).

12833394

2003

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

UNIPROT

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

10360402

1999

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

UNIPROT

Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.

10671061

1998

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

UNIPROT

G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.

9790257

1998

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

UNIPROT

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

8845844

1996

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

BEFREE

In every case, nucleotide sequence analysis of cDNA revealed a C to T transition at nucleotide 742 (C742T) in one allele of the FGFR3 gene, suggesting that type I TD is a rather homogeneous genetic condition, irrespective of clinical course.

8858131

1996

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

UNIPROT

Of 39 individuals with a second type of TD, 22 had a mutation causing an Arg248Cys change and one had a Ser371Cys substitution, both in the extracellular region of the protein.

7773297

1995

dbSNP:

rs121913482

FGFR3

0.830

GeneticVariation

UNIPROT

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

8589699

1995

dbSNP:

rs121913482

FGFR3

0.830

CausalMutation

CLINVAR

dbSNP:

rs121913485

FGFR3

0.820

GeneticVariation

BEFREE

A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I.

18987480

2008

dbSNP:

rs121913485

FGFR3

0.820

GeneticVariation

UNIPROT

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

10360402

1999

dbSNP:

rs121913485

FGFR3

0.820

GeneticVariation

BEFREE

We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes.

9843049

1998