NPS 1
MCID: NLP001
MIFTS: 70

Nail-Patella Syndrome (NPS 1) malady

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

Summaries for Nail-Patella Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Nail-Patella Syndrome, also known as nail patella syndrome, is related to nephrotic syndrome and proteinuria, and has symptoms including joint dislocation/subluxation, autosomal dominant inheritance and glaucoma. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM homeobox transcription factor 1, beta), and among its related pathways are Non-integrin membrane-ECM interactions and Nephrin interactions. The compound puromycin aminonucleoside have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are renal/urinary system and vision/eye.

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:63 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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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

nail-patella syndrome 8 9 19 21 46 10 44 48 60
nail patella syndrome 8 42 20 22
fong disease 8 19 42 21
hereditary osteo-onychodysplasia 19 21
turner-kieser syndrome 21 48
onychoosteodysplasia 42 48
hereditary onycho-osteodysplasia 21
hereditary onychoostedysplasia 8
arthro-onychodysplasia 42
osteo-onychodysplasia 42
osterreicher syndrome 21
turner-kiser syndrome 8
pelvic horn syndrome 21
iliac horn syndrome 8
nps 1 42


External Ids:

Disease Ontology8 DOID:9467
OMIM46 161200
NCIt39 C75120
SNOMED-CT56 22199006
MESH via Orphanet35 D009261
ICD10 via Orphanet26 Q87.2
SNOMED-CT via Orphanet57 22199006
UMLS via Orphanet61 C0027341

Related Diseases for Nail-Patella Syndrome

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17GeneCards, 18GeneDecks
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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 52)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome30.6COL4A4, NPHS2, CD2AP, LMX1B, PAX2
2proteinuria30.2PAX2, CD2AP, COL4A4, NPHS2
3glomerulonephritis30.2CD2AP, NPHS2, COL4A4
4nail disease10.7
5glaucoma10.5
6image syndrome10.4
7open-angle glaucoma10.3
8pterygium10.3
9attention deficit hyperactivity disorder10.1
10syndromic diarrhea10.1
11crescentic glomerulonephritis10.1
12neurofibromatosis10.1
13hereditary hemorrhagic telangiectasia10.1
14familial mediterranean fever10.1
15major depressive disorder10.1
16sensorineural hearing loss10.1
17tuberous sclerosis10.1
18eclampsia10.1
19achondroplasia10.1
20osteoarthritis10.1
21cleft lip10.1
22cleft palate10.1
23paget's disease of bone10.1
24imperforate anus10.1
25adult syndrome10.1
26hemolytic-uremic syndrome10.1
27arthropathy10.1
28collagen disease10.1
29dermatitis10.1
30diarrhea10.1
31ehlers-danlos syndrome10.1
32kidney disease10.1
33myopathy10.1
34pre-eclampsia10.1
35sarcoma10.1
36thyrotoxicosis10.1
37turner syndrome10.1
38vasculitis10.1
39absent patella10.1
40antecubital pterygium10.1
41salcedo syndrome10.1
42glaucoma 1, open angle, e10.1
43denys-drash syndrome10.0PAX2
44dystonia musculorum deformans10.0AK1
45diffuse mesangial sclerosis10.0PAX2, NPHS2
46primary hyperoxaluria10.0PAX2
47nevoid basal cell carcinoma syndrome10.0PTCH1
48lipoid nephrosis10.0NPHS2, CD2AP
49focal segmental glomerulosclerosis10.0NPHS2, CD2AP, PAX2
50ehlers-danlos syndrome, classic type10.0COL5A1, COL5A2

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



Diseases related to nail-patella syndrome

Clinical Features for Nail-Patella Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

161200

Clinical synopsis from OMIM:

161200

Symptoms:

48 (show all 32)
  • 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
  • osteoarthritis
  • hydrarthrosis/articular/joint effusion
  • proteinuria
  • 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
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality

Drugs & Therapeutics for Nail-Patella Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Nail-Patella Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7COL4A4, NPHS2, CD2AP, LMX1B, PAX2, PTCH1
2MP:00053918.6ASS1, PTCH1, PAX2, LMX1B, WNT7A, COL5A2
3MP:00107718.3COL5A1, COL5A2, MEFV, WNT7A, LMX1B, PTCH1
4MP:00053908.1COL5A2, MEFV, NR6A1, TBX4, WNT7A, LMX1B
5MP:00053807.9COL5A1, NR6A1, TBX4, WNT7A, LMX1B, PAX2
6MP:00053897.7PDLIM5, MEFV, NR6A1, WNT7A, PAX2, PTCH1
7MP:00053767.5COL4A4, NPHS2, MEFV, AK1, NR6A1, TBX4
8MP:00053857.1COL5A1, PDLIM5, NPHS2, AK1, NR6A1, TBX4
9MP:00107685.3LDB1, COL5A1, COL4A4, COL5A2, PDLIM5, NPHS2

Publications for Nail-Patella Syndrome

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50PubMed
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Articles related to Nail-Patella Syndrome:

(show top 50)    (show all 213)
idTitleAuthorsYear
1
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. (24029584)
2013
2
A hypoplastic patella fracture in nail patella syndrome: a case report. (22800460)
2012
3
The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree. (21920246)
2011
4
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. (19222527)
2009
5
Nail patella syndrome. (19907953)
2009
6
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. (18414507)
2008
7
Nail patella syndrome. (18543759)
2008
8
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma. (17515884)
2007
9
Multiple triangular lunula unguis: a specific finding for the nail-patella syndrome. (18210914)
2007
10
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. (15638822)
2005
11
Arthroscopic findings in the knee in nail-patella syndrome: a case report. (15650657)
2005
12
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. (15785774)
2005
13
Functional characterization of LMX1B mutations associated with nail-patella syndrome. (15774843)
2005
14
Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]. (16085960)
2005
15
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. (15928687)
2005
16
Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability. (15483536)
2004
17
Nail-patella syndrome. (14639389)
2003
18
In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. (12819019)
2003
19
What syndrome is this? Nail-patella syndrome. (12383107)
2002
20
Musculoskeletal case 22. Nail patella syndrome. (12067176)
2002
21
Nail-patella syndrome--renal and musculo-skeletal features. (11773489)
2002
22
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma. (10488864)
1999
23
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. (10571942)
1999
24
Nail-patella syndrome and IgA nephropathy in a Chinese woman. (10643004)
1999
25
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome. (9781042)
1998
26
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier. (9781017)
1998
27
Treatment of antecubital pterygium in the nail-patella syndrome. (9481653)
1998
28
Ultrasound prenatal diagnosis of the Nail-Patella syndrome. (9742578)
1998
29
Renal transplantation from a donor with a nail-patella syndrome. (9269666)
1997
30
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
31
Diarrhea-associated hemolytic-uremic syndrome in a child with nail-patella syndrome. (7597489)
1995
32
Sensorineural hearing loss and nail patella syndrome. (8198793)
1994
33
Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy. (8368242)
1993
34
Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. (1572660)
1992
35
Nail-patella syndrome: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan. (2306900)
1990
36
Bilateral first-rib hypoplasia: a new feature of the nail-patella syndrome. (3732578)
1986
37
Membranous nephropathy in a patient with nail-patella syndrome nephropathy. (3983624)
1985
38
Nail patella syndrome. (4030686)
1985
39
Long-term follow-up of the treatment of a family with nail-patella syndrome. (6874935)
1983
40
Triangular lunulae. A clue to nail-patella syndrome. (7369778)
1980
41
Nail-patella syndrome. (7418282)
1980
42
Nail-patella syndrome. A distinctive clinical and electron microscopic presentation. (7451692)
1980
43
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. (961703)
1976
44
Familial colon carcinoma in nail-patella syndrome. (1147145)
1975
45
Nail-Patella syndrome. Light and electron microscopic studies of the kidney. (4682988)
1973
46
Nail-Patella syndrome. Study of an affected family. (5436203)
1970
47
Heredity osteo-onycho-dysplasia (Nail-Patella syndrome). Report of an affected family and two severely disabled sporadic cases. (4915921)
1970
48
Nail-patella syndrome. (5362299)
1969
49
Nail-patella syndrome in an Indian family: clinical and linkage data. (5970338)
1966
50
NAIL-PATELLA SYNDROME (ONYCHO-OSTEODYSPLASIA) WITH ASSOCIATED BOWEN'S DISEASE AND PAGET'S DISEASE OF BONE. (14068148)
1963

Genetic Variations for Nail-Patella Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Nail-Patella Syndrome:

62 (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

Expression for genes affiliated with Nail-Patella Syndrome

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1BioGPS, 15Gene 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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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Nail-Patella Syndrome

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

idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside4410.0CD2AP, NPHS2

GO Terms for genes affiliated with Nail-Patella Syndrome

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16Gene Ontology
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Cellular components related to Nail-Patella Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VGO:0055889.6COL5A2, COL5A1
2endoplasmic reticulum lumenGO:0057889.3WNT7A, COL5A2, COL4A4, COL5A1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1eye morphogenesisGO:04859210.0COL5A2, COL5A1
2skin developmentGO:0435889.9COL5A2, COL5A1
3limb morphogenesisGO:0351089.9PTCH1, LMX1B, TBX4
4collagen fibril organizationGO:0301999.8COL5A1, COL5A2, LMX1B
5dorsal/ventral pattern formationGO:0099539.7PTCH1, LMX1B, WNT7A
6collagen catabolic processGO:0305749.7COL5A1, COL4A4, COL5A2
7extracellular matrix disassemblyGO:0226179.6COL5A2, COL4A4, COL5A1
8neuron differentiationGO:0301829.1LDB1, LMX1B, WNT7A

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.6RSPO4, PTCH1, COL5A1
2extracellular matrix structural constituentGO:0052019.6COL5A2, COL4A4, COL5A1
3adenylate kinase activityGO:0040179.3AK1, AK3

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet