Details of Disease | DrugMAP

General Information of Disease (ID: DIS8C4CT)

Disease Name	Nail-patella syndrome
Synonyms	NPS; arthro-onychodysplasia; NPS1; Turner-Kiser syndrome; Turner-Kieser syndrome; osteo-onychodysplasia; iliac horn syndrome; Nail Patella Syndrome; hereditary onychoostedysplasia; nail patella syndrome; Fong disease; onychoosteodysplasia; hereditary Osteo-onychodysplasia; nail-patella syndrome; NPS 1
Definition	A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
Disease Hierarchy	DISB52BH: Eye disorder DIS6SVEE: Syndromic disease DISHPNVX: Dysplasia DIS3HIWD: Autosomal dominant disease DIS8C4CT: Nail-patella syndrome
Disease Identifiers	MONDO ID MONDO_0008061 MESH ID D009261 UMLS CUI C0027341 OMIM ID 161200 MedGen ID 10257 Orphanet ID 2614 SNOMED CT ID 22199006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NPSR1	TTV1C0Z	Definitive	Altered Expression	[1]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS2	OTTK22NO	Strong	Biomarker	[2]
AK1	OT614AR3	Strong	Genetic Variation	[3]
COL5A1	OT24078H	Strong	Biomarker	[4]
LDB1	OT20EAPR	Strong	Biomarker	[5]
MCIDAS	OTK1JVAH	Strong	Biomarker	[2]
PAX2	OTKP1N8F	Strong	Biomarker	[6]
PDLIM5	OTLQVV22	Strong	Genetic Variation	[7]
SMOC1	OTJG2JQY	Strong	Biomarker	[8]
LMX1B	OTM8145D	Definitive	Autosomal dominant	[9]
NPS	OTEG25A2	Definitive	Genetic Variation	[10]
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⏷ Show the Full List of 10 DOT(s)

References

1	Neuropeptide S reduces propofol- or ketamine-induced slow wave states through activation of cognate receptors in the rat.Neuropeptides. 2017 Jun;63:59-66. doi: 10.1016/j.npep.2017.02.081. Epub 2017 Feb 14.
2	Neuropsychiatric symptoms as predictors of conversion from MCI to dementia: a machine learning approach.Int Psychogeriatr. 2020 Mar;32(3):381-392. doi: 10.1017/S1041610219001030.
3	Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.Eur J Hum Genet. 1998 Jul-Aug;6(4):345-9. doi: 10.1038/sj.ejhg.5200191.
4	COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d.
5	The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.Dev Biol. 2007 Apr 15;304(2):701-12. doi: 10.1016/j.ydbio.2007.01.020. Epub 2007 Jan 18.
6	Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?.Eur J Hum Genet. 2018 Nov;26(11):1708-1712. doi: 10.1038/s41431-018-0213-4. Epub 2018 Jul 4.
7	A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.J Dermatol Sci. 2018 Apr;90(1):90-93. doi: 10.1016/j.jdermsci.2017.12.010. Epub 2017 Dec 19.
8	SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30.
9	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.
10	Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.Nat Genet. 1998 May;19(1):51-5. doi: 10.1038/ng0598-51.