Details of Disease

General Information of Disease (ID: DISLE7J4)

Disease Name Thanatophoric dysplasia type 1
Synonyms
thanatophoric dwarfism; thanatophoric dwarfism 1; lethal short-limbed Platyspondylic dwarfism, San Diego type; thanatophoric dysplasia; thanatophoric dysplasia type I; thanatophoric dysplasia, type I; PLSD San Diego type; Platyspondylic lethal skeletal dysplasia, San Diego type; thanatophoric dysplasia, type 1; TD1; thanatophoric dwarfism type 1; type 1 thanatophoric dysplasia
Definition Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Disease Hierarchy
DIS3HIWD: Autosomal dominant disease
DIS3S10R: Thanatophoric dysplasia
DISLE7J4: Thanatophoric dysplasia type 1
Disease Identifiers
MONDO ID
MONDO_0008546
MESH ID
C566844
UMLS CUI
C1868678
OMIM ID
187600
MedGen ID
358383
Orphanet ID
1860
SNOMED CT ID
389157002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR3 TTST7KB Limited Genetic Variation [1]
NPR2 TTNB7IF Strong Biomarker [2]
TNFRSF18 TTG6LA7 Strong Altered Expression [3]
FGFR3 TTST7KB Definitive Autosomal dominant [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTRH1 OTOAOS93 Strong Biomarker [5]
FGFR3 OTSAXDIL Definitive Autosomal dominant [4]
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References

1 Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.Congenit Anom (Kyoto). 2019 Jan;59(1):4-10. doi: 10.1111/cga.12278. Epub 2018 Apr 15.
2 C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.PLoS One. 2018 Jul 26;13(7):e0201492. doi: 10.1371/journal.pone.0201492. eCollection 2018.
3 Involvement of regulatory T cells in the immunosuppression characteristic of patients with paracoccidioidomycosis.Infect Immun. 2010 Oct;78(10):4392-401. doi: 10.1128/IAI.00487-10. Epub 2010 Jul 19.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5 Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia.Hum Mol Genet. 2012 Sep 15;21(18):3941-55. doi: 10.1093/hmg/dds181. Epub 2012 May 24.