MCID: NLP001
MIFTS: 59

Nail-Patella Syndrome malady

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

Aliases & Classifications for Nail-Patella Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 22GeneTests, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 49 10 11 21 23 47 12 51 65 36 67
Fong Disease 10 21 45 22 23
Nail Patella Syndrome 10 45 22 24
Hereditary Osteo-Onychodysplasia 21 22 23
Turner-Kieser Syndrome 45 23 51
Onychoosteodysplasia 45 51 67
Hereditary Onycho-Osteodysplasia 23
Hereditary Onychoostedysplasia 10
 
Arthro-Onychodysplasia 45
Turner-Kiser Syndrome 10
Osteo-Onychodysplasia 45
Osterreicher Syndrome 23
Pelvic Horn Syndrome 23
Iliac Horn Syndrome 10
Nps 1 45
Nps 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
nail-patella syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal


External Ids:

OMIM49 161200
Disease Ontology10 DOID:9467
NCIt42 C75120
Orphanet51 2614
SNOMED-CT59 22199006
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 D009261
UMLS via Orphanet66 C0027341
MedGen34 C0027341

Summaries for Nail-Patella Syndrome

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NIH Rare Diseases:45 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 fong disease, is related to membranous nephropathy and nephrotic syndrome, and has symptoms including sprengel anomaly, abnormality of the fingernails and limitation of joint mobility. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1, Beta), and among its related pathways are Protein digestion and absorption and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are renal/urinary system and cardiovascular system.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Wikipedia:68 Nail–patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM:49 161200

GeneReviews summary for nail-ps

Related Diseases for Nail-Patella Syndrome

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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:

 51 (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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Heritable Connective Tissue DisordersCompletedNCT00001641

Search NIH Clinical Center for Nail-Patella Syndrome


Cochrane evidence based reviews: 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 Syndrome22 24 LMX1B

Anatomical Context for Nail-Patella Syndrome

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MalaCards organs/tissues related to Nail-Patella Syndrome:

33
Kidney, Eye, Bone, Skin, Heart, Lymph node, Colon

Animal Models for Nail-Patella Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Nail-Patella Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.8CD2AP, COL4A4, LMX1B, NPHS2, PAX2
2MP:00053856.9AK1, CD2AP, COL5A1, LMX1B, NPHS2, PAX2
3MP:00107686.5ASS1, CD2AP, COL4A4, COL5A1, LMX1B, NPHS2

Publications for Nail-Patella Syndrome

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Articles related to Nail-Patella Syndrome:

(show top 50)    (show all 222)
idTitleAuthorsYear
1
Radiographic findings in the nail-patella syndrome. (26130880)
2015
2
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. (26025008)
2015
3
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome. (24720768)
2014
4
Arthropathy and proteinuria: nail-patella syndrome revisited. (25408626)
2014
5
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. (25380522)
2014
6
Intercondylar synovial septum in two patients with nail-patella syndrome. (23288746)
2013
7
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
8
Nail-patella syndrome. (21952482)
2011
9
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
10
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. (21510571)
2010
11
Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome. (18186852)
2008
12
A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. (18595794)
2008
13
Nail patella syndrome. (18085198)
2007
14
Nail-patella syndrome and its association with glaucoma: a review of eight families. (16825280)
2006
15
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. (15638822)
2005
16
Nail patella syndrome revisited: 50 years after linkage. (15996164)
2005
17
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. (15562281)
2005
18
Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability. (15483536)
2004
19
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
20
Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome. (12650329)
2003
21
The course of pregnancy in a patient with nail-patella syndrome. (12061296)
2002
22
Nail patella syndrome. A 55-year follow-up of the original description. (12370586)
2002
23
IgA nephropathy associated with Nail-Patella syndrome in a 7-year-old girl. (11472596)
2001
24
Surgical management of congenital permanent dislocation of the patella in nail patella syndrome by Stanisavljevic procedure. (10664428)
1999
25
Early prenatal diagnosis of nail-patella syndrome by ultrasonography. (10327020)
1999
26
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma. (10488864)
1999
27
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. (9590288)
1998
28
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome. (9781042)
1998
29
Cosegregation of open-angle glaucoma and the nail-patella syndrome. (9323941)
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
Sensorineural hearing loss and nail patella syndrome. (8198793)
1994
32
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. (8403448)
1993
33
Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy. (8368242)
1993
34
Clinical quiz. Nail-patella syndrome (NPS) (hereditary osteo-onychodysplasia). (1616848)
1992
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: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan. (2306900)
1990
37
Nail-patella syndrome with some unusual features. (2079475)
1990
38
The nail-patella syndrome. (3394605)
1988
39
Renal histopathology of the nail-patella syndrome in a two-year-old boy. (3365866)
1988
40
Vasculitis and renal disease in nail-patella syndrome: case report and literature review. (3662646)
1987
41
Triangular lunulae. A clue to nail-patella syndrome. (7369778)
1980
42
The nail-patella syndrome. A report of three families. (4693887)
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:

67 (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:

5 (show all 13)
id Gene Variation 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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Search GEO for disease gene expression data for Nail-Patella Syndrome.

Pathways for genes affiliated with Nail-Patella Syndrome

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Pathways related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5COL4A4, COL5A1
29.3CD2AP, NPHS2

GO Terms for genes affiliated with Nail-Patella Syndrome

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Cellular components related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.5COL4A4, COL5A1
2collagen trimerGO:00055819.2COL4A4, COL5A1

Biological processes related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.5COL4A4, COL5A1

Molecular functions related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.5COL4A4, COL5A1

Sources for Nail-Patella Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet