Details of Disease

General Information of Disease (ID: DIS3S10R)

Disease Name Thanatophoric dysplasia
Synonyms dwarfism thanatophoric; thanatophoric dwarfism; Td
Definition
Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DIS18AKT: FGFR3-related chondrodysplasia
DIS3S10R: Thanatophoric dysplasia
Disease Identifiers
MONDO ID
MONDO_0017042
MESH ID
D013796
UMLS CUI
C0039743
MedGen ID
21124
Orphanet ID
2655
SNOMED CT ID
29352008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR3 TTST7KB Strong Genetic Variation [1]
HSPG2 TT5UM29 Strong Biomarker [2]
NPR2 TTNB7IF Strong Biomarker [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTRH1 OTOAOS93 Strong Biomarker [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 Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice.Nat Neurosci. 2002 Feb;5(2):119-23. doi: 10.1038/nn801.
3 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.
4 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.