Details of Disease | DrugMAP

General Information of Disease (ID: DISW4YZ1)

Disease Name	Trichorhinophalangeal syndrome type II
Synonyms	TRPS 2; chromosome 8Q24.1 deletion syndrome; trichorhinophalangeal syndrome, type II; TRPS2; trichorhinophalangeal syndrome, type 2; Giedion-Langer syndrome; Langer Giedion syndrome; monosomy 8q24.1; Langer-Giedion syndrome; deletion 8q24.1; trichorhinophalangeal dysplasia type II; trichorhinophalangeal syndrome type 2
Definition	Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
Disease Hierarchy	DISB3PDJ: Partial deletion of the long arm of chromosome 8 DISO1AEK: Trichorhinophalangeal syndrome DIS3HIWD: Autosomal dominant disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISW4YZ1: Trichorhinophalangeal syndrome type II
Disease Identifiers	MONDO ID MONDO_0007874 MESH ID D015826 UMLS CUI C0023003 OMIM ID 150230 MedGen ID 6009 Orphanet ID 502 SNOMED CT ID 41069008

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
BMP1	TT0L58T	Limited	Biomarker	[1]
MAPK10	TT056SO	Limited	Biomarker	[2]
GABRA1	TT1MPAY	Definitive	Genetic Variation	[3]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TG	OT3ELHIJ	Limited	Genetic Variation	[4]
DCT	OTYVNTBG	Strong	Biomarker	[5]
RANBP2	OTFG5CVF	Strong	Biomarker	[5]
TRPS1	OT7XPPEL	Strong	Genetic Variation	[6]
BCL9	OTRBIPR4	Definitive	Genetic Variation	[3]
EXT1	OTRPALJK	Definitive	Autosomal dominant	[7]
LGSN	OTQG5Z82	Definitive	Genetic Variation	[3]
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⏷ Show the Full List of 7 DOT(s)

References

1	BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications.Clin Orthop Relat Res. 1995 Feb;(311):199-209.
2	Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.Hum Genet. 2013 Apr;132(4):461-71. doi: 10.1007/s00439-012-1260-5. Epub 2013 Jan 18.
3	Association of GABAA Receptor Gene with Epilepsy Syndromes.J Mol Neurosci. 2018 Jun;65(2):141-153. doi: 10.1007/s12031-018-1081-7. Epub 2018 May 21.
4	Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.Am J Hum Genet. 1991 Dec;49(6):1197-206.
5	A final word on the tricho-rhino-phalangeal syndromes.Clin Genet. 1987 Apr;31(4):273-5. doi: 10.1111/j.1399-0004.1987.tb02806.x.
6	Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].Am J Med Genet A. 2015 Jun;167(6):1426-7. doi: 10.1002/ajmg.a.36974. Epub 2015 Apr 21.
7	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.