NPS 1
MCID: NLP001
MIFTS: 69

Nail-Patella Syndrome (NPS 1) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Nail-Patella Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Nail patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. other areas of the body may also be affected, particularly the eyes and kidneys. the features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. this condition is transmitted in an autosomal dominant fashion and results from mutations in the lmx1b gene. treatment is symptomatic and supportive. last updated: 7/18/2011

MalaCards: Nail-Patella Syndrome, also known as nail patella syndrome, is related to nephrotic syndrome and renal dysplasia, and has symptoms including glaucoma, absent/small fingernails/anonychia of hands and joint dislocation/subluxation. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM homeobox transcription factor 1, beta), and among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Degradation of the extracellular matrix. The compounds puromycin aminonucleoside and steroid have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are hearing/vestibular/ear and cellular.

Genetics Home Reference:22 Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.

Wikipedia:66 Nail?patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM:48 161200

GeneReviews summary for nail-ps

Aliases & Classifications for Nail-Patella Syndrome

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9Disease Ontology, 10diseasecard, 20GeneReviews, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
nail-patella syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

nail-patella syndrome 9 10 20 22 48 11 46 50 63
nail patella syndrome 9 44 21 23
fong disease 9 20 44 22
turner-kieser syndrome 44 22 50
hereditary osteo-onychodysplasia 20 22
onychoosteodysplasia 44 50
hereditary onycho-osteodysplasia 22
hereditary onychoostedysplasia 9
arthro-onychodysplasia 44
osteo-onychodysplasia 44
turner-kiser syndrome 9
osterreicher syndrome 22
pelvic horn syndrome 22
iliac horn syndrome 9
nps 1 44


External Ids:

Disease Ontology9 DOID:9467
OMIM48 161200
NCIt41 C75120
SNOMED-CT59 22199006
MESH via Orphanet37 D009261
ICD10 via Orphanet27 Q87.2
SNOMED-CT via Orphanet60 22199006
UMLS via Orphanet64 C0027341

Related Diseases for Nail-Patella Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Nail-Patella Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome30.7PAX2, LMX1B, NPHS2, CD2AP, COL4A4
2renal dysplasia30.4PAX2, LMX1B
3glomerulonephritis30.3COL4A4, NPHS2, CD2AP
4ehlers-danlos syndrome30.3COL5A2, COL5A1
5glaucoma10.5
6antecubital pterygium10.4
7open-angle glaucoma10.3
8pterygium10.3
9small patella syndrome10.3
10attention deficit hyperactivity disorder10.2
11neurofibromatosis10.2
12major depressive disorder10.2
13familial mediterranean fever10.2
14hereditary hemorrhagic telangiectasia10.2
15cleft lip10.2
16osteoarthritis10.2
17paget's disease of bone10.2
18imperforate anus10.2
19hemolytic-uremic syndrome10.2
20sensorineural hearing loss10.2
21tuberous sclerosis10.2
22eclampsia10.2
23achondroplasia10.2
24crescentic glomerulonephritis10.2
25arthropathy10.2
26dermatitis10.2
27diarrhea10.2
28kidney disease10.2
29myopathy10.2
30pre-eclampsia10.2
31sarcoma10.2
32thyrotoxicosis10.2
33vasculitis10.2
34absent patella10.2
35omphalocele exstrophy imperforate anus10.2
36pectus carinatum10.2
37salcedo syndrome10.2
38short stature10.2
39glaucoma 1, open angle, e10.2
40nephrosis10.2
41omphalocele10.2
42denys-drash syndrome10.1PAX2
43diffuse mesangial sclerosis10.1NPHS2, PAX2
44congenital nephrotic syndrome finnish type10.1NPHS2, CD2AP
45nephritis10.1NPHS2, COL4A4
46lipoid nephrosis10.0NPHS2, CD2AP
47focal segmental glomerulosclerosis10.0NPHS2, CD2AP, PAX2
48membranous glomerulonephritis10.0NPHS2, CD2AP
49ehlers–danlos syndrome classical type10.0COL5A1, COL5A2
50iga glomerulonephritis10.0MEFV, NPHS2, CD2AP

Graphical network of the top 20 diseases related to Nail-Patella Syndrome:



Diseases related to nail-patella syndrome

Symptoms for Nail-Patella Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

161200

Clinical features from OMIM:

161200

Symptoms:

50 (show all 32)
  • glaucoma
  • absent/small fingernails/anonychia of hands
  • joint dislocation/subluxation
  • vascularitis/vasculitides/arteritis
  • elbow anomalies(excluding luxation)
  • upper limb segmental anomalies
  • dysplastic/thick/grooved fingernails
  • patella absent/abnormal (excluding luxation)
  • absent/small toenails/anonychia of feet
  • dysplastic/thick/grooved toenails
  • lower limb segmental anomalies
  • nephrotic syndrome
  • renal glomerular defect/glomerulopathy
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • autosomal dominant inheritance
  • chronic arterial hypertension
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • restricted joint mobility/joint stiffness/ankylosis
  • renal disease/nephropathy
  • proteinuria
  • renal failure
  • hydrarthrosis/articular/joint effusion
  • exostoses
  • hyperextensible joints/articular hyperlaxity
  • hematuria/microhematuria
  • cubitus valgus
  • thin/hypoplastic/hyperconvex fingernails
  • thin/hypoplastic toenails
  • osteoarthritis

Drugs & Therapeutics for Nail-Patella Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Nail-Patella Syndrome

Drug clinical trials:

Search ClinicalTrials for Nail-Patella Syndrome

Search NIH Clinical Center for Nail-Patella Syndrome

Search CenterWatch for Nail-Patella Syndrome

Genetic Tests for Nail-Patella Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Nail-Patella Syndrome:

id Genetic test Affiliating Genes
1 Nail-Patella Syndrome21 23 LMX1B

Anatomical Context for Nail-Patella Syndrome

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34MalaCards
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MalaCards organs/tissues related to Nail-Patella Syndrome:

34
Kidney, Eye, Bone, Skin, Colon, Lymph node, Heart

Animal Models for Nail-Patella Syndrome or affiliated genes

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38MGI
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Publications for Nail-Patella Syndrome

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53PubMed
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Articles related to Nail-Patella Syndrome:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Intercondylar synovial septum in two patients with nail-patella syndrome. (23288746)
2013
2
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function. (21184584)
2011
3
Nail-patella syndrome. (21952482)
2011
4
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
5
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. (21510571)
2010
6
Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome. (18186852)
2008
7
A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. (18595794)
2008
8
Nail patella syndrome. (18085198)
2007
9
Nail-Patella syndrome: a case report and anesthetic implications. (17934166)
2007
10
Nail-patella syndrome and its association with glaucoma: a review of eight families. (16825280)
2006
11
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. (15638822)
2005
12
Nail patella syndrome revisited: 50 years after linkage. (15996164)
2005
13
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. (15562281)
2005
14
Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability. (15483536)
2004
15
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. (14699618)
2004
16
Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome. (12650329)
2003
17
The course of pregnancy in a patient with nail-patella syndrome. (12061296)
2002
18
Nail patella syndrome. A 55-year follow-up of the original description. (12370586)
2002
19
IgA nephropathy associated with Nail-Patella syndrome in a 7-year-old girl. (11472596)
2001
20
Surgical management of congenital permanent dislocation of the patella in nail patella syndrome by Stanisavljevic procedure. (10664428)
1999
21
Early prenatal diagnosis of nail-patella syndrome by ultrasonography. (10327020)
1999
22
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma. (10488864)
1999
23
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. (9590288)
1998
24
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome. (9781042)
1998
25
Cosegregation of open-angle glaucoma and the nail-patella syndrome. (9323941)
1997
26
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. (7759113)
1995
27
Sensorineural hearing loss and nail patella syndrome. (8198793)
1994
28
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. (8403448)
1993
29
Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy. (8368242)
1993
30
Clinical quiz. Nail-patella syndrome (NPS) (hereditary osteo-onychodysplasia). (1616848)
1992
31
Nail-patella syndrome associated with mixed crystal deposition arthropathy. (1333935)
1992
32
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. (2012138)
1991
33
Nail-patella syndrome: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan. (2306900)
1990
34
Nail-patella syndrome with some unusual features. (2079475)
1990
35
The nail-patella syndrome. (3394605)
1988
36
Renal histopathology of the nail-patella syndrome in a two-year-old boy. (3365866)
1988
37
Vasculitis and renal disease in nail-patella syndrome: case report and literature review. (3662646)
1987
38
Triangular lunulae. A clue to nail-patella syndrome. (7369778)
1980
39
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. (961703)
1976
40
An Indian family with the nail-patella syndrome. (4452599)
1974
41
The nail-patella syndrome. A report of three families. (4693887)
1973
42
Nail-Patella syndrome. Light and electron microscopic studies of the kidney. (4682988)
1973
43
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. (5423458)
1970
44
Nail-Patella syndrome. Study of an affected family. (5436203)
1970
45
Linkage of the loci for the nail-patella syndrome and adenylate kinase. (5365763)
1969
46
Onycho-osteodysplasia (the nail-patella syndrome) with pectus carinatum--report of a family. (6079099)
1967
47
Determination of acidic glycosaminoglycans (mucopolysaccharides) in urine by an ion exchange method. Application to "collagenoses", gargoylism, the nail-patella syndrome and Farber's disease. (4226725)
1967
48
Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection. (6019383)
1967
49
The nail-patella syndrome. (5926437)
1966
50
The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome. (5945537)
1966

Variations for Nail-Patella Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Nail-Patella Syndrome:

65 (show all 30)
id Symbol AA change Variation ID SNP ID
1LMX1Bp.Cys118PheVAR_004198
2LMX1Bp.Cys165TrpVAR_004199
3LMX1Bp.Arg223GlnVAR_004200rs28939692
4LMX1Bp.Ala236ProVAR_004201
5LMX1Bp.Ser241ProVAR_004202
6LMX1Bp.Arg249ProVAR_004203
7LMX1Bp.Ala253ValVAR_004204
8LMX1Bp.Asn269LysVAR_004205
9LMX1Bp.His77AsnVAR_015190
10LMX1Bp.Leu81TrpVAR_015191
11LMX1Bp.Cys83PheVAR_015192
12LMX1Bp.Cys83TrpVAR_015193
13LMX1Bp.Cys103TrpVAR_015194
14LMX1Bp.Cys118TyrVAR_015195
15LMX1Bp.His137TyrVAR_015196
16LMX1Bp.Cys140TyrVAR_015197
17LMX1Bp.Trp266CysVAR_015198
18LMX1Bp.Cys59ArgVAR_015201
19LMX1Bp.Cys59SerVAR_015202
20LMX1Bp.His77GlnVAR_015203
21LMX1Bp.His77TyrVAR_015204
22LMX1Bp.Cys80ArgVAR_015205
23LMX1Bp.Cys83GlyVAR_015206
24LMX1Bp.Cys83TyrVAR_015207
25LMX1Bp.Cys86ArgVAR_015208
26LMX1Bp.Asp106GlyVAR_015209
27LMX1Bp.Cys143SerVAR_015210
28LMX1Bp.Cys146PheVAR_015211
29LMX1Bp.Cys146TyrVAR_015212
30LMX1Bp.Leu252ProVAR_015213

Clinvar genetic disease variations for Nail-Patella Syndrome:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1LMX1BNM_002316.3(LMX1B): c.807C> A (p.Asn269Lys)single nucleotide variantPathogenicrs121909486GRCh37Chr 9, 129455868: 129455868
2LMX1BNM_002316.3(LMX1B): c.661C> T (p.Arg221Ter)single nucleotide variantPathogenicrs121909487GRCh37Chr 9, 129455522: 129455522
3LMX1BLMX1B, 1-BP INS, 713AinsertionPathogenic
4LMX1BNM_002316.3(LMX1B): c.353G> T (p.Cys118Phe)single nucleotide variantPathogenicrs121909488GRCh37Chr 9, 129453141: 129453141
5LMX1BLMX1B, 2-BP DEL, 233TGdeletionPathogenic
6LMX1BNM_002316.3(LMX1B): c.244C> T (p.Gln82Ter)single nucleotide variantPathogenicrs121909489GRCh37Chr 9, 129377766: 129377766
7LMX1BNM_002316.3(LMX1B): c.691C> T (p.Arg231Ter)single nucleotide variantPathogenicrs121909490GRCh37Chr 9, 129455552: 129455552
8LMX1BNM_002316.3(LMX1B): c.668G> A (p.Arg223Gln)single nucleotide variantPathogenicrs121909491GRCh37Chr 9, 129455529: 129455529
9LMX1BLMX1B, 672, G-A, +1single nucleotide variantPathogenic
10LMX1BLMX1B, 672, G-T, +1single nucleotide variantPathogenic
11LMX1BNM_002316.3(LMX1B): c.745C> T (p.Arg249Ter)single nucleotide variantPathogenicrs121909492GRCh37Chr 9, 129455806: 129455806
12LMX1BLMX1B, 17-BP DELdeletionPathogenic
13LMX1BLMX1B, DELdeletionPathogenic

Expression for genes affiliated with Nail-Patella Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nail-Patella Syndrome

Search GEO for disease gene expression data for Nail-Patella Syndrome.

Pathways for genes affiliated with Nail-Patella Syndrome

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 54QIAGEN, 55R&D Systems
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Compounds for genes affiliated with Nail-Patella Syndrome

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46Novoseek
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Compounds related to Nail-Patella Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside469.8NPHS2, CD2AP
2steroid468.8NPHS2, WNT7A, LMX1B, CD2AP
3tyrosine468.2NPHS2, PTCH1, LMX1B, PAX2, MEFV, PDLIM5

GO Terms for genes affiliated with Nail-Patella Syndrome

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17Gene Ontology
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Cellular components related to Nail-Patella Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VGO:0055889.6COL5A1, COL5A2
2protein complexGO:0432349.2LDB1, NPHS2, PAX2
3endoplasmic reticulum lumenGO:0057888.6COL4A4, WNT7A, COL5A2, COL5A1
4extracellular regionGO:0055768.1RSPO4, WNT7A, COL5A2, COL5A1, COL4A4

Biological processes related to Nail-Patella Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1eye morphogenesisGO:0485929.9COL5A1, COL5A2
2skin developmentGO:0435889.8COL5A1, COL5A2
3limb morphogenesisGO:0351089.8LMX1B, PTCH1
4collagen fibril organizationGO:0301999.7COL5A1, COL5A2, LMX1B
5heart morphogenesisGO:0030079.7PTCH1, COL5A1
6collagen catabolic processGO:0305749.6COL4A4, COL5A2, COL5A1
7branching involved in ureteric bud morphogenesisGO:0016589.6PTCH1, PAX2
8neural tube closureGO:0018439.6PTCH1, PAX2
9extracellular matrix disassemblyGO:0226179.6COL5A1, COL4A4, COL5A2
10extracellular matrix organizationGO:0301989.3COL5A2, COL4A4, COL5A1
11neuron differentiationGO:0301829.1WNT7A, LDB1, LMX1B
12axon guidanceGO:0074119.1COL5A1, COL5A2, COL4A4
13dorsal/ventral pattern formationGO:0099539.1LMX1B, WNT7A, PTCH1
14positive regulation of transcription from RNA polymerase II promoterGO:0459448.7WNT7A, LDB1, PAX2, LMX1B

Molecular functions related to Nail-Patella Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1COL5A1, PTCH1, RSPO4
2extracellular matrix structural constituentGO:0052019.1COL4A4, COL5A1, COL5A2

Products for genes affiliated with Nail-Patella Syndrome

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Sources for Nail-Patella Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet