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

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 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 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

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

161200

Clinical synopsis from OMIM:

161200

Symptoms:

48 (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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Nail-Patella Syndrome:

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

Anatomical Context for Nail-Patella Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Nail-Patella Syndrome:

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

Animal Models for Nail-Patella Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7PTCH1, LDB1, PAX2, LMX1B, CD2AP, NPHS2
2MP:00053918.6WNT7A, LMX1B, PAX2, PTCH1, ASS1, COL5A2
3MP:00107718.3COL5A1, MEFV, ASS1, LMX1B, WNT7A, COL5A2
4MP:00053908.1NR6A1, TBX4, WNT7A, LMX1B, COL5A2, PTCH1
5MP:00053807.9COL5A1, NR6A1, TBX4, WNT7A, LMX1B, PAX2
6MP:00053897.7PTCH1, LDB1, PDLIM5, MEFV, NR6A1, WNT7A
7MP:00053767.5COL4A4, NPHS2, MEFV, AK1, NR6A1, TBX4
8MP:00053857.1AK1, NPHS2, PDLIM5, COL5A1, TBX4, CD2AP
9MP:00107685.3ASS1, PTCH1, PAX2, LMX1B, GPR107, WNT7A

Publications for Nail-Patella Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Nail-Patella Syndrome:

(show top 50)    (show all 213)
idTitleAuthorsYear
1
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. (23897191)
2013
2
A case of nail-patella syndrome associated with thyrotoxicosis. (22574102)
2012
3
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. (20199424)
2010
4
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. (20531206)
2010
5
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. (19147669)
2009
6
Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome. (18186852)
2008
7
Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl. (18533963)
2008
8
A novel LMX1B nonsense mutation in a family with nail-patella syndrome. (18562181)
2008
9
Nail-patella syndrome and renal involvement. Description of three cases and literature review. (18538102)
2008
10
Nail patella syndrome. (18085198)
2007
11
Nail-patella syndrome associated with Ewing sarcoma. (17696103)
2007
12
Nail-patella syndrome and its association with glaucoma: a review of eight families. (16825280)
2006
13
Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. (16902295)
2006
14
Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome. (16807765)
2006
15
Nail patella syndrome revisited: 50 years after linkage. (15996164)
2005
16
Imaging of nail-patella syndrome. (15815066)
2005
17
Nail-patella syndrome in Saudi Arabia with new features and surgical procedures: the first described study. (15266233)
2004
18
Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome. (12650329)
2003
19
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. (12792813)
2003
20
Nail patella syndrome. A 55-year follow-up of the original description. (12370586)
2002
21
Nail-patella syndrome. Overview on clinical and molecular findings. (12215822)
2002
22
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. (11303519)
2001
23
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. (11668639)
2001
24
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. (10854116)
2000
25
Prenatal diagnosis of nail-patella syndrome. (10210133)
1999
26
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. (10094193)
1999
27
Fine mapping of the nail-patella syndrome locus at 9q34. (8981956)
1997
28
Linkage analysis of the nail-patella syndrome. (7825584)
1995
29
Clavicular horn: another bony projection in nail-patella syndrome. (8545188)
1995
30
Nail-patella syndrome. (8083552)
1994
31
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. (8403448)
1993
32
Nail-Patella Syndrome (20301311)
1993
33
Nail-patella syndrome and pre-eclampsia. (8163040)
1993
34
Nail-patella syndrome. Image correlation. (1464182)
1992
35
Variability of the antigenicity of the glomerular basement membrane in nail-patella syndrome. (2474137)
1989
36
Nail-patella syndrome (hereditary osteo-onychodysplasia). A case report. (3793464)
1986
37
An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. (6507504)
1984
38
Nail-patella syndrome: report of three cases in the same family. (4496823)
1974
39
The nail-patella syndrome. A report of three families. (4693887)
1973
40
Renal disease in nail-patella syndrome: clinical and morphologic studies. (4571998)
1972
41
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. (5423458)
1970
42
Linkage of the loci for the nail-patella syndrome and adenylate kinase. (5365763)
1969
43
Onycho-osteodysplasia (the nail-patella syndrome) with pectus carinatum--report of a family. (6079099)
1967
44
Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection. (6019383)
1967
45
Hereditary onycho osteodysplasia (nail-patella syndrome) masquerading as arthrogryposis. (6029327)
1967
46
The Nail-Patella syndrome. Clinical findings and ultrastructural observations in the kidney. (6028699)
1967
47
NAIL-PATELLA SYNDROME AND PREGNANCY. (14218024)
1964
48
Autosomal linkage in man: the nail-patella syndrome. (5889017)
1964
49
The Blood Groups of a Further Family with Nail-Patella Syndrome. (17948484)
1963
50
Nail-patella syndrome: clinical and linkage data on family G. (13314404)
1956

Genetic Variations for Nail-Patella Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Nail-Patella Syndrome

About this section
Sources:
44Novoseek
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nail-Patella Syndrome

About this section
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