Details of Disease | DrugMAP

General Information of Disease (ID: DISMTBDA)

Disease Name	Coffin-Lowry syndrome
Synonyms	lean spastic dwarfism; intellectual disability with osteocartilaginous abnormalities; Coffin syndrome; COFFIN-Lowry syndrome; mental retardation with osteocartilaginous abnormalities; Coffin syndrome 1; dwarfism, lean spastic type; CLS; Coffin-Lowry syndrome; Coffin-Lowry syndrome, X-linked dominant; Coffin Lowry Syndrome
Definition	A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISMTBDA: Coffin-Lowry syndrome
Disease Identifiers	MONDO ID MONDO_0010561 MESH ID D038921 UMLS CUI C0265252 OMIM ID 303600 MedGen ID 75556 Orphanet ID 192 SNOMED CT ID 15182000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAPKAP1	TTWDKCL	Strong	Genetic Variation	[1]
RPS6KA3	TTUM2ZR	Definitive	X-linked	[2]
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This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRP4	OTO4M459	Limited	Genetic Variation	[3]
RPS6	OTT4D1LN	Limited	Genetic Variation	[4]
AFF2	OTMF1PZW	Strong	Genetic Variation	[5]
ARX	OTBGYH25	Strong	Genetic Variation	[5]
CRLS1	OT7XNL0K	Strong	Biomarker	[6]
HSD17B6	OTSB55D2	Strong	Altered Expression	[7]
IL1RAPL1	OTW3T4B2	Strong	Genetic Variation	[5]
MBTPS2	OT67CC7W	Strong	Biomarker	[8]
PDHA1	OTGEU8IK	Strong	Genetic Variation	[9]
PQBP1	OTXCBEAH	Strong	Genetic Variation	[5]
RPS6KA3	OTYJNNMD	Definitive	X-linked	[2]
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⏷ Show the Full List of 11 DOT(s)

References

1	X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).Eur J Hum Genet. 2002 Jan;10(1):2-5. doi: 10.1038/sj.ejhg.5200738.
2	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.
3	Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.BMC Med Genet. 2018 Jul 24;19(1):125. doi: 10.1186/s12881-018-0646-1.
4	Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.Gene. 2016 Jan 1;575(1):42-7. doi: 10.1016/j.gene.2015.08.032. Epub 2015 Aug 20.
5	Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).Am J Med Genet. 1996 Jul 12;64(1):89-96. doi: 10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O.
6	Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.Am J Med Genet. 2000 Nov 13;95(2):93-8. doi: 10.1002/1096-8628(20001113)95:2<93::aid-ajmg1>3.0.co;2-b.
7	RSK2 represses HSF1 activation during heat shock.Cell Stress Chaperones. 2000 Nov;5(5):432-7. doi: 10.1379/1466-1268(2000)005<0432:rrhadh>2.0.co;2.
8	High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.Mamm Genome. 1997 Jul;8(7):497-501. doi: 10.1007/s003359900483.
9	Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis.Hum Mol Genet. 1998 Mar;7(3):549-55. doi: 10.1093/hmg/7.3.549.