NPS 1
MCID: NLP001
MIFTS: 58

Nail-Patella Syndrome (NPS 1) malady

Eye, Nephrological, Bone, Skin, Fetal categories

Summaries for Nail-Patella Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 n syndrome and kid syndrome, and has symptoms including osteoarthritis, autosomal dominant inheritance and chronic arterial hypertension. 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, lymph node and heart, 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:64 Nail–patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM:47 161200

GeneReviews summary for nail-ps

Aliases & Classifications for Nail-Patella Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Nephrological, Bone, Skin


Characteristics (Orphanet epidemiological data):

49
nail-patella syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

nail-patella syndrome 8 9 19 21 47 10 45 49 61
nail patella syndrome 8 43 20 22
fong disease 8 19 43 21
hereditary osteo-onychodysplasia 19 21
turner-kieser syndrome 21 49
onychoosteodysplasia 43 49
hereditary onycho-osteodysplasia 21
hereditary onychoostedysplasia 8
arthro-onychodysplasia 43
osteo-onychodysplasia 43
osterreicher syndrome 21
turner-kiser syndrome 8
pelvic horn syndrome 21
iliac horn syndrome 8
nps 1 43


External Ids:

Disease Ontology8 DOID:9467
OMIM47 161200
NCIt40 C75120
SNOMED-CT57 22199006
MESH via Orphanet36 D009261
ICD10 via Orphanet26 Q87.2
SNOMED-CT via Orphanet58 22199006
UMLS via Orphanet62 C0027341

Related Diseases for Nail-Patella Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to nail-patella syndrome

Clinical Features for Nail-Patella Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

161200

Clinical synopsis from OMIM:

161200

Symptoms:

49 (show all 32)
  • osteoarthritis
  • 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
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • 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

Drugs & Therapeutics for Nail-Patella Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Nail-Patella Syndrome:

33
Kidney, Lymph node, Heart, Colon

Animal Models for Nail-Patella Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Nail-Patella Syndrome

Sources:
51PubMed
See all sources

Articles related to Nail-Patella Syndrome:

(show top 50)    (show all 214)
idTitleAuthorsYear
1
Intercondylar synovial septum in two patients with nail-patella syndrome. (23288746)
2013
2
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). (24267390)
2013
3
A case of ectopic cilia in nail-patella syndrome. (22441588)
2012
4
Nail-patella syndrome. (21952482)
2011
5
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
6
Kidney disease in nail-patella syndrome. (18535845)
2009
7
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. (19541663)
2009
8
A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. (19721866)
2009
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
Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. (16902295)
2006
13
Quiz page. Nail-patella syndrome. (16933400)
2006
14
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
15
Noncompaction on cardiac MRI in a patient with nail-patella syndrome and mitochondriopathy. (12975547)
2003
16
Nail patella syndrome: a review of the phenotype aided by developmental biology. (12624132)
2003
17
The association of Buschke-Ollendorf syndrome and nail-patella syndrome. (11907523)
2002
18
Nail-patella syndrome with renal involvement and antecubital pterygia. (12645195)
2002
19
Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. (11978876)
2002
20
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. (11175791)
2001
21
What is your diagnosis? Nail-patella syndrome. (10916696)
2000
22
LMX1B transactivation and expression in nail-patella syndrome. (10767331)
2000
23
Early prenatal diagnosis of nail-patella syndrome by ultrasonography. (10327020)
1999
24
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome. (10425280)
1999
25
Nail-patella syndrome: an incidental finding from abdominal discomfort. (10624918)
1999
26
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. (9590288)
1998
27
Mutation analysis of LMX1B gene in nail-patella syndrome patients. (9837817)
1998
28
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. (9590287)
1998
29
Linkage analysis of the nail-patella syndrome. (7825584)
1995
30
Medial Flatness of the Femoral Trochlea in the Nail Patella Syndrome. (20470500)
1995
31
Quiz. Osteo-onychodysplasia (nail-patella syndrome). (7587527)
1995
32
Pathognomonic sign of triangular lunulae in the nail-patella syndrome. (7753476)
1995
33
Nail-patella syndrome. (8083552)
1994
34
Bilateral renal stones associated with nail-patella syndrome. (7870239)
1994
35
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. (2012138)
1991
36
Nail patella syndrome: a review of 44 orthopaedic patients. (1960197)
1991
37
Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review. (2642772)
1989
38
Living-related renal transplantation in a patient with nail-patella syndrome. (3065663)
1988
39
Vasculitis and renal disease in nail-patella syndrome: case report and literature review. (3662646)
1987
40
The nail-patella syndrome--a report of two cases and a literature review. (6824825)
1983
41
Cystic adventitial degeneration of the popliteal artery. Its occurrence in a patient with the nail-patella syndrome. (6687538)
1983
42
Electron microscope study of renal lesions in nail-patella syndrome. (6804325)
1981
43
Nail-patella syndrome. (612684)
1977
44
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. (5423458)
1970
45
The nail-patella syndrome. (5427659)
1970
46
Hereditary osteo-onycho-dysplasia (nail-patella syndrome). (5779212)
1969
47
Hereditary osteo-onycho-dysplasia. The nail-patella syndrome. (6073380)
1967
48
The nail-patella syndrome. A study of a Caernarvon family. (5863840)
1965
49
Nail-patella syndrome coupled with blood group B in a New Zealand family. (13949059)
1963
50
Nail-patella Syndrome. (19994290)
1963

Genetic Variations for Nail-Patella Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Nail-Patella Syndrome:

63 (show all 30)
id Symbol AA change Variation 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

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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Nail-Patella Syndrome

Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside4510.0CD2AP, NPHS2

GO Terms for genes affiliated with Nail-Patella Syndrome

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nail-Patella Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet