NPS 1
MCID: NLP001
MIFTS: 70

Nail-Patella Syndrome (NPS 1) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Nail-Patella Syndrome

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NIH Rare Diseases:42 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 based summary: Nail-Patella Syndrome, also known as turner-kieser syndrome, is related to renal dysplasia and nephrotic syndrome, and has symptoms including pelvis anomaly/narrow/broad iliac wings/pubis abnormality, scapula structural/position anomaly/congenital elevation/sprengel anomaly and elbow anomalies(excluding luxation). 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:21 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:65 Nail?patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM:46 161200

GeneReviews summary for nail-ps

Aliases & Classifications for Nail-Patella Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Nail-Patella Syndrome, Aliases & Descriptions:

Name: Nail-Patella Syndrome 8 9 19 21 46 10 44 48 62
Turner-Kieser Syndrome 42 21 48 62
Nail Patella Syndrome 8 42 20 22
Fong Disease 8 19 42 21
Hereditary Onycho-Osteodysplasia 21 62
Hereditary Osteo-Onychodysplasia 19 21
Onychoosteodysplasia 42 48
Osteo-Onychodysplasia, Hereditary 62
 
Hereditary Onychoostedysplasia 8
Arthro-Onychodysplasia 42
Osterreicher Syndrome 21
Osteo-Onychodysplasia 42
Turner-Kiser Syndrome 8
Pelvic Horn Syndrome 21
Iliac Horn Syndrome 8
Nps 1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
nail-patella syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:9467
NCIt39 C75120
OMIM46 161200
SNOMED-CT57 22199006
MESH via Orphanet35 D009261
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet63 C0027341

Related Diseases for Nail-Patella Syndrome

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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 53)
idRelated DiseaseScoreTop Affiliating Genes
1renal dysplasia30.8PAX2, LMX1B
2nephrotic syndrome30.7PAX2, LMX1B, NPHS2, CD2AP, COL4A4
3proteinuria30.6PAX2, CD2AP, NPHS2, COL4A4
4glomerulonephritis30.5COL4A4, NPHS2, CD2AP
5ehlers-danlos syndrome30.3COL5A2, COL5A1
6antecubital pterygium10.4
7denys-drash syndrome10.4PAX2
8diffuse mesangial sclerosis10.4NPHS2, PAX2
9arthropathy10.3
10open-angle glaucoma10.3
11pterygium10.3
12small patella syndrome10.3
13congenital nephrotic syndrome finnish type10.3NPHS2, CD2AP
14nephritis10.2NPHS2, COL4A4
15lipoid nephrosis10.2NPHS2, CD2AP
16focal segmental glomerulosclerosis10.2NPHS2, CD2AP, PAX2
17attention deficit hyperactivity disorder10.2
18hereditary hemorrhagic telangiectasia10.2
19major depressive disorder10.2
20osteoarthritis10.2
21familial mediterranean fever10.2
22tuberous sclerosis10.2
23eclampsia10.2
24crescentic glomerulonephritis10.2
25cleft lip10.2
26paget's disease of bone10.2
27hemolytic-uremic syndrome10.2
28sensorineural hearing loss10.2
29achondroplasia10.2
30neurofibromatosis10.2
31imperforate anus10.2
32dermatitis10.2
33diarrhea10.2
34kidney disease10.2
35myopathy10.2
36pre-eclampsia10.2
37sarcoma10.2
38thyrotoxicosis10.2
39vasculitis10.2
40absent patella10.2
41omphalocele exstrophy imperforate anus10.2
42pectus carinatum10.2
43salcedo syndrome10.2
44short stature10.2
45glaucoma 1, open angle, e10.2
46nephrosis10.2
47omphalocele10.2
48membranous glomerulonephritis10.2NPHS2, CD2AP
49ehlers–danlos syndrome classical type10.2COL5A1, COL5A2
50berger disease10.1MEFV, 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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Symptoms by clinical synopsis from OMIM:

161200

Clinical features from OMIM:

161200

Symptoms:

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

HPO human phenotypes related to Nail-Patella Syndrome:

(show all 68)
id Description Frequency HPO Source Accession
1 sprengel anomaly hallmark (90%) HP:0000912
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 limitation of joint mobility hallmark (90%) HP:0001376
4 joint hypermobility hallmark (90%) HP:0001382
5 anonychia hallmark (90%) HP:0001798
6 hypoplastic toenails hallmark (90%) HP:0001800
7 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
8 skeletal dysplasia hallmark (90%) HP:0002652
9 cubitus valgus hallmark (90%) HP:0002967
10 patellar aplasia hallmark (90%) HP:0006443
11 exostoses hallmark (90%) HP:0100777
12 patellar aplasia common (75%) HP:0006443
13 proteinuria typical (50%) HP:0000093
14 nephrotic syndrome typical (50%) HP:0000100
15 joint dislocation typical (50%) HP:0001373
16 joint swelling typical (50%) HP:0001386
17 osteoarthritis typical (50%) HP:0002758
18 renal insufficiency occasional (7.5%) HP:0000083
19 nephropathy occasional (7.5%) HP:0000112
20 hearing impairment occasional (7.5%) HP:0000365
21 glaucoma occasional (7.5%) HP:0000501
22 cataract occasional (7.5%) HP:0000518
23 hematuria occasional (7.5%) HP:0000790
24 hypertension occasional (7.5%) HP:0000822
25 vasculitis occasional (7.5%) HP:0002633
26 glomerulopathy occasional (7.5%) HP:0100820
27 autosomal dominant inheritance HP:0000006
28 renal insufficiency HP:0000083
29 proteinuria HP:0000093
30 glomerulonephritis HP:0000099
31 nephrotic syndrome HP:0000100
32 cleft palate HP:0000175
33 cleft upper lip HP:0000204
34 sensorineural hearing impairment HP:0000407
35 microcornea HP:0000482
36 glaucoma HP:0000501
37 ptosis HP:0000508
38 cataract HP:0000518
39 keratoconus HP:0000563
40 pectus excavatum HP:0000767
41 hematuria HP:0000790
42 absent distal interphalangeal creases HP:0001032
43 limited elbow extension HP:0001377
44 concave nail HP:0001598
45 talipes equinovarus HP:0001762
46 pes planus HP:0001763
47 anonychia HP:0001798
48 ridged nail HP:0001807
49 spina bifida HP:0002414
50 scoliosis HP:0002650
51 lumbar hyperlordosis HP:0002938
52 patellar dislocation HP:0002999
53 hypoplastic radial head HP:0003997
54 clinodactyly of the 5th finger HP:0004209
55 short stature HP:0004322
56 absence of pectoralis minor muscle HP:0005255
57 elongated radius HP:0006424
58 disproportionate prominence of the femoral medial condyle HP:0006437
59 glenoid fossa hypoplasia HP:0006633
60 thickening of the lateral border of the scapula HP:0006650
61 hypoplasia of first ribs HP:0006657
62 antecubital pterygium HP:0009760
63 iliac horns HP:0009780
64 lester's sign HP:0009781
65 biceps aplasia HP:0009783
66 triceps aplasia HP:0009785
67 quadriceps aplasia HP:0009788
68 microphakia HP:0012376

Drugs & Therapeutics for Nail-Patella Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Nail-Patella Syndrome

Genetic Tests for Nail-Patella Syndrome

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Genetic tests related to Nail-Patella Syndrome:

id Genetic test Affiliating Genes
1 Nail-Patella Syndrome20 22 LMX1B

Anatomical Context for Nail-Patella Syndrome

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MalaCards organs/tissues related to Nail-Patella Syndrome:

32
Kidney, Eye, Bone, Skin, Lymph node, Heart, Colon

Animal Models for Nail-Patella Syndrome or affiliated genes

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Publications for Nail-Patella Syndrome

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Articles related to Nail-Patella Syndrome:

(show top 50)    (show all 213)
idTitleAuthorsYear
1
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome. (24720768)
2014
2
Arthropathy and proteinuria: nail-patella syndrome revisited. (25408626)
2014
3
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. (25380522)
2014
4
Intercondylar synovial septum in two patients with nail-patella syndrome. (23288746)
2013
5
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
6
Nail-patella syndrome. (21952482)
2011
7
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
8
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. (21510571)
2010
9
Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome. (18186852)
2008
10
A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. (18595794)
2008
11
Nail patella syndrome. (18085198)
2007
12
Nail-patella syndrome and its association with glaucoma: a review of eight families. (16825280)
2006
13
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. (15638822)
2005
14
Nail patella syndrome revisited: 50 years after linkage. (15996164)
2005
15
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. (15562281)
2005
16
Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability. (15483536)
2004
17
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
18
Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome. (12650329)
2003
19
The course of pregnancy in a patient with nail-patella syndrome. (12061296)
2002
20
Nail patella syndrome. A 55-year follow-up of the original description. (12370586)
2002
21
IgA nephropathy associated with Nail-Patella syndrome in a 7-year-old girl. (11472596)
2001
22
Surgical management of congenital permanent dislocation of the patella in nail patella syndrome by Stanisavljevic procedure. (10664428)
1999
23
Early prenatal diagnosis of nail-patella syndrome by ultrasonography. (10327020)
1999
24
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma. (10488864)
1999
25
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. (9590288)
1998
26
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome. (9781042)
1998
27
Cosegregation of open-angle glaucoma and the nail-patella syndrome. (9323941)
1997
28
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
29
Sensorineural hearing loss and nail patella syndrome. (8198793)
1994
30
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. (8403448)
1993
31
Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy. (8368242)
1993
32
Clinical quiz. Nail-patella syndrome (NPS) (hereditary osteo-onychodysplasia). (1616848)
1992
33
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. (2012138)
1991
34
Nail-patella syndrome: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan. (2306900)
1990
35
Nail-patella syndrome with some unusual features. (2079475)
1990
36
The nail-patella syndrome. (3394605)
1988
37
Renal histopathology of the nail-patella syndrome in a two-year-old boy. (3365866)
1988
38
Vasculitis and renal disease in nail-patella syndrome: case report and literature review. (3662646)
1987
39
Triangular lunulae. A clue to nail-patella syndrome. (7369778)
1980
40
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. (961703)
1976
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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UniProtKB/Swiss-Prot genetic disease variations for Nail-Patella Syndrome:

64 (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:

6 (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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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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Compounds for genes affiliated with Nail-Patella Syndrome

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Sources:
44Novoseek
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Compounds related to Nail-Patella Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside449.8CD2AP, NPHS2
2steroid448.8CD2AP, NPHS2, WNT7A, LMX1B
3tyrosine448.2PTCH1, LMX1B, PAX2, MEFV, PDLIM5, NPHS2

GO Terms for genes affiliated with Nail-Patella Syndrome

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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:0432349.2PAX2, LDB1, NPHS2
3endoplasmic reticulum lumenGO:0057888.6COL4A4, COL5A1, COL5A2, WNT7A
4extracellular regionGO:0055768.1COL4A4, COL5A1, COL5A2, WNT7A, RSPO4

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet