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TD1
MCID: THN009
MIFTS: 62
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Thanatophoric Dysplasia, Type I (TD1)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Thanatophoric Dysplasia, Type I:
Characteristics:Orphanet epidemiological data:58
thanatophoric dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;
thanatophoric dysplasia type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: stillbirth; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
death in majority of infants soon after birth HPO:31
thanatophoric dysplasia, type i:
Clinical modifier neonatal death Inheritance autosomal dominant inheritance GeneReviews:24
Penetrance The penetrance of fgfr3 pathogenic variants is 100%.
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Skin diseases Respiratory diseases Neuronal diseases
ICD10:
32
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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NIH Rare Diseases :
52
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by mutations in the FGFR3 gene . While this condition is considered to be autosomal dominant , virtually all cases have occurred in people with no history of the disorder in their family. Two major forms of thanatophoric dysplasia have been described, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.
MalaCards based summary : Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to thanatophoric dysplasia, type ii and nevus, epidermal. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. Affiliated tissues include bone, skin and lung, and related phenotypes are macrocephaly and muscular hypotonia Disease Ontology : 12 An osteochondrodysplasia that results in short arms and legs with excess folds of skin. Genetics Home Reference : 25 Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull. The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help. OMIM : 56 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987). (187600) KEGG : 36 Thanatophoric dysplasia (TD) is a congenital skeletal dysplasia characterized by marked underdevelopment of the skeletal system and short-limb dwarfism. It is the most common form of lethal skeletal dysplasia syndromes. Two types of TD have been described. Type I TD (TDI) is associated with curved and short femurs. The shortness of the bones in type II TD (TDII) is not as significant as in TDI. TDII is characterized by straight femurs and cloverleaf skull deformity. Other features common to type I and type II include short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Both TDI and TDII are caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Its incidence is 1 in 20 000 to 50 000 births and it is an autosomal dominant condition. The mutation in most TD cases is de novo. UniProtKB/Swiss-Prot : 73 Thanatophoric dysplasia 1: A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs. Wikipedia : 74 Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a... more...
GeneReviews:
NBK1366
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Human phenotypes related to Thanatophoric Dysplasia, Type I:58 31 (show top 50) (show all 64)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:187600GenomeRNAi Phenotypes related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:26 (show all 11)
MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:45 (show all 22)
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Cochrane evidence based reviews: thanatophoric dysplasia |
MalaCards organs/tissues related to Thanatophoric Dysplasia, Type I:40
Bone,
Skin,
Lung,
Eye,
Heart,
Temporal Lobe,
Brain
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Articles related to Thanatophoric Dysplasia, Type I:(show top 50) (show all 438)
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Genes related to Thanatophoric Dysplasia, Type I (1 elite genes):(show all 19) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Thanatophoric Dysplasia, Type I:6 (show all 24)
UniProtKB/Swiss-Prot genetic disease variations for Thanatophoric Dysplasia, Type I:73
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Search
GEO
for disease gene expression data for Thanatophoric Dysplasia, Type I.
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Pathways related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:(show top 50) (show all 59)
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Cellular components related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:
Biological processes related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:(show top 50) (show all 60)
Molecular functions related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:
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