MCID: NLP001
MIFTS: 54

Nail-Patella Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Nail-Patella Syndrome

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 50 11 22 46 23 24 13 52 68 12 48 37 66
Fong Disease 11 22 46 23 24
Hereditary Osteo-Onychodysplasia 22 23 24
Turner-Kieser Syndrome 46 24 52
Onychoosteodysplasia 46 52 68
Nail Patella Syndrome 11 25
Hereditary Onycho-Osteodysplasia 24
Hereditary Onychoostedysplasia 11
 
Arthro-Onychodysplasia 46
Turner-Kiser Syndrome 11
Osterreicher Syndrome 24
Osteo-Onychodysplasia 46
Pelvic Horn Syndrome 24
Iliac Horn Syndrome 11
Nps 1 46
Nps 68

Characteristics:

Orphanet epidemiological data:

52
nail-patella syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal

HPO:

62
nail-patella syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 161200
Disease Ontology11 DOID:9467
ICD1028 Q87.2
MeSH37 D009261
NCIt43 C75120
SNOMED-CT60 22199006
Orphanet52 ORPHA2614
ICD10 via Orphanet29 Q87.2
MESH via Orphanet38 D009261
UMLS via Orphanet67 C0027341
MedGen35 C0027341

Summaries for Nail-Patella Syndrome

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NIH Rare Diseases:46 Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. some affected people may also experience problems in other areas of the body such as the kidneys and eyes. the severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. nail-patella syndrome is caused by changes (mutations) in the lmx1b gene and is inherited in an autosomal dominant manner. treatment is supportive and based on the signs and symptoms present in each person. last updated: 2/2/2016

MalaCards based summary: Nail-Patella Syndrome, also known as fong disease, is related to salcedo syndrome and migraine with or without aura 1, 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 vision/eye and renal/urinary system.

UniProtKB/Swiss-Prot:68 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Genetics Home Reference:24 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:69 Nail–patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM:50 161200

GeneReviews summary for NBK1132

Related Diseases for Nail-Patella Syndrome

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Diseases related to Nail-Patella Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1salcedo syndrome11.2
2migraine with or without aura 110.9
3spinocerebellar ataxia 2310.9
4adiposis dolorosa10.9
5reflex sympathetic dystrophy10.9
6adrenal gland pheochromocytoma10.9
7neuronal intestinal dysplasia10.9
8dissociative amnesia10.9
9autonomic nervous system disease10.9
10indeterminate leprosy10.9
11epicondylitis10.9
12nasal cavity disease10.9
13alcohol-induced mental disorder10.9
14alcoholic psychosis10.9
15causalgia10.9
16neurodermatitis10.9
17vasomotor rhinitis10.9
18dental pulp disease10.9
19sleep disorder10.9
20amphetamine abuse10.9
21cloacogenic carcinoma10.9
22sebaceous gland disease10.9
23disease of mental health10.8
24narcolepsy10.8
25niemann-pick disease10.6
26nephrotic syndrome10.3
27familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.2CD2AP, NPHS2
28influenza10.2
29small patella syndrome10.2
30open-angle glaucoma10.2
31arthropathy10.2
32glaucoma 1, open angle, e10.1
33buschke-ollendorff syndrome10.1
34pterygium, antecubital10.1
35suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.1CD2AP, NPHS2
36female stress incontinence10.0CD2AP, NPHS2
37avian influenza10.0
38achondroplasia10.0
39attention deficit-hyperactivity disorder10.0
40membranous nephropathy10.0
41ewing sarcoma10.0
42patella aplasia-hypoplasia10.0
43oeis complex10.0
44glomerulonephritis10.0
45hereditary hemorrhagic telangiectasia10.0
46osteoarthritis10.0
47omphalocele10.0
48sensorineural hearing loss10.0
49imperforate anus10.0
50pre-eclampsia10.0

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:

 52 (show all 32)
  • renal insufficiency
  • proteinuria
  • nephrotic syndrome
  • nephropathy
  • hearing impairment
  • glaucoma
  • cataract
  • hematuria
  • hypertension
  • abnormality of the fingernails
  • joint dislocation
  • joint swelling
  • joint stiffness
  • concave nail
  • hypoplastic toenails
  • ridged nail
  • vasculitis
  • skeletal dysplasia
  • osteoarthritis
  • abnormality of the lower limb
  • abnormality of the upper limb
  • cubitus valgus
  • patellar dislocation
  • joint hyperflexibility
  • aplasia/hypoplasia of the patella
  • thickening of the lateral border of the scapula
  • abnormality of the toenails
  • iliac horns
  • abnormality of the elbow
  • aplastic/hypoplastic toenail
  • exostoses
  • glomerulopathy

HPO human phenotypes related to Nail-Patella Syndrome:

(show all 67)
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 renal insufficiency HP:0000083
28 proteinuria HP:0000093
29 glomerulonephritis HP:0000099
30 nephrotic syndrome HP:0000100
31 cleft palate HP:0000175
32 cleft upper lip HP:0000204
33 sensorineural hearing impairment HP:0000407
34 microcornea HP:0000482
35 glaucoma HP:0000501
36 ptosis HP:0000508
37 cataract HP:0000518
38 keratoconus HP:0000563
39 pectus excavatum HP:0000767
40 hematuria HP:0000790
41 absent distal interphalangeal creases HP:0001032
42 limited elbow extension HP:0001377
43 concave nail HP:0001598
44 talipes equinovarus HP:0001762
45 pes planus HP:0001763
46 anonychia HP:0001798
47 ridged nail HP:0001807
48 spina bifida HP:0002414
49 scoliosis HP:0002650
50 lumbar hyperlordosis HP:0002938
51 patellar dislocation HP:0002999
52 hypoplastic radial head HP:0003997
53 clinodactyly of the 5th finger HP:0004209
54 short stature HP:0004322
55 absence of pectoralis minor muscle HP:0005255
56 elongated radius HP:0006424
57 disproportionate prominence of the femoral medial condyle HP:0006437
58 glenoid fossa hypoplasia HP:0006633
59 thickening of the lateral border of the scapula HP:0006650
60 hypoplasia of first ribs HP:0006657
61 antecubital pterygium HP:0009760
62 iliac horns HP:0009780
63 lester's sign HP:0009781
64 biceps aplasia HP:0009783
65 triceps aplasia HP:0009785
66 quadriceps aplasia HP:0009788
67 microphakia HP:0012376

UMLS symptoms related to Nail-Patella Syndrome:


arthralgia, metatarsalgia, koilonychia, onychomadesis, nail discomfort, nail bed hemorrhage, nail bed tenderness, abnormal nail growth

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 Syndrome25 23 LMX1B

Anatomical Context for Nail-Patella Syndrome

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MalaCards organs/tissues related to Nail-Patella Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.0ASS1, COL4A4, COL5A1, LMX1B, PAX2
2MP:00053677.9CD2AP, COL4A4, LMX1B, NPHS2, PAX2
3MP:00053857.1AK1, CD2AP, COL5A1, LMX1B, NPHS2, PAX2
4MP: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 231)
idTitleAuthorsYear
1
Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. (27284321)
2016
2
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. (27450397)
2016
3
Radiographic findings in the nail-patella syndrome. (26130880)
2015
4
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. (26025008)
2015
5
Arthropathy and proteinuria: nail-patella syndrome revisited. (25408626)
2014
6
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
7
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. (21510571)
2010
8
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. (20199424)
2010
9
Renal involvement in nail-patella syndrome: report of three cases. (19296234)
2010
10
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. (19222527)
2009
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 and its association with glaucoma: a review of eight families. (16825280)
2006
14
Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. (16902295)
2006
15
The nail-patella syndrome: rare genetically determined cause of proteinuria]. (18634531)
2006
16
Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome. (12650329)
2003
17
The course of pregnancy in a patient with nail-patella syndrome. (12061296)
2002
18
The association of Buschke-Ollendorf syndrome and nail-patella syndrome. (11907523)
2002
19
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
20
What is your diagnosis? Nail-patella syndrome. (10916696)
2000
21
Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. (10836702)
2000
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
Prenatal diagnosis of nail-patella syndrome. (10210133)
1999
26
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. (9590288)
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
Linkage analysis of the nail-patella syndrome. (7825584)
1995
30
Medial Flatness of the Femoral Trochlea in the Nail Patella Syndrome. (20470500)
1995
31
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. (8403448)
1993
32
Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy. (8368242)
1993
33
Nail-patella syndrome and pre-eclampsia. (8163040)
1993
34
A case report of an Irish family displaying nail-patella syndrome. (8473128)
1993
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
Nail-patella syndrome: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan. (2306900)
1990
38
Nail-patella syndrome with some unusual features. (2079475)
1990
39
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. (3225824)
1988
40
Vasculitis and renal disease in nail-patella syndrome: case report and literature review. (3662646)
1987
41
Nail-patella syndrome (hereditary osteo-onychodysplasia). A case report. (3793464)
1986
42
Palmar-plantar hyperhidrosis occurring in a kindred with nail-patella syndrome. (7204680)
1980
43
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. (961703)
1976
44
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. (5423458)
1970
45
Ultrastructure of the kidney in the nephropathy of the nail--patella syndrome. (5484038)
1970
46
Onycho-osteodysplasia (the nail-patella syndrome) with pectus carinatum--report of a family. (6079099)
1967
47
Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection. (6019383)
1967
48
Nail-patella syndrome coupled with blood group B in a New Zealand family. (13949059)
1963
49
The Blood Groups of a Further Family with Nail-Patella Syndrome. (17948484)
1963
50
NAIL-PATELLA SYNDROME (ONYCHO-OSTEODYSPLASIA) WITH ASSOCIATED BOWEN'S DISEASE AND PAGET'S DISEASE OF BONE. (14068148)
1963

Variations for Nail-Patella Syndrome

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

68 (show all 30)
id Symbol AA change Variation ID SNP ID
1LMX1Bp.Cys118PheVAR_004198rs121909488
2LMX1Bp.Cys165TrpVAR_004199
3LMX1Bp.Arg223GlnVAR_004200rs28939692
4LMX1Bp.Ala236ProVAR_004201
5LMX1Bp.Ser241ProVAR_004202
6LMX1Bp.Arg249ProVAR_004203
7LMX1Bp.Ala253ValVAR_004204
8LMX1Bp.Asn269LysVAR_004205rs121909486
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 14)
id Gene Variation Type Significance SNP ID Assembly Location
1LMX1BNM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter)single nucleotide variantPathogenicrs864621969GRCh38Chr 9, 126615549: 126615549
2LMX1BNM_002316.3(LMX1B): c.807C> A (p.Asn269Lys)single nucleotide variantPathogenicrs121909486GRCh37Chr 9, 129455868: 129455868
3LMX1BNM_002316.3(LMX1B): c.661C> T (p.Arg221Ter)single nucleotide variantPathogenicrs121909487GRCh37Chr 9, 129455522: 129455522
4LMX1BLMX1B, 1-BP INS, 713AinsertionPathogenic
5LMX1BNM_002316.3(LMX1B): c.353G> T (p.Cys118Phe)single nucleotide variantPathogenicrs121909488GRCh37Chr 9, 129453141: 129453141
6LMX1BLMX1B, 2-BP DEL, 233TGdeletionPathogenic
7LMX1BNM_002316.3(LMX1B): c.244C> T (p.Gln82Ter)single nucleotide variantPathogenicrs121909489GRCh37Chr 9, 129377766: 129377766
8LMX1BNM_002316.3(LMX1B): c.691C> T (p.Arg231Ter)single nucleotide variantPathogenicrs121909490GRCh37Chr 9, 129455552: 129455552
9LMX1BNM_002316.3(LMX1B): c.668G> A (p.Arg223Gln)single nucleotide variantPathogenicrs121909491GRCh37Chr 9, 129455529: 129455529
10LMX1BLMX1B, 672, G-A, +1single nucleotide variantPathogenic
11LMX1BLMX1B, 672, G-T, +1single nucleotide variantPathogenic
12LMX1BNM_002316.3(LMX1B): c.745C> T (p.Arg249Ter)single nucleotide variantPathogenicrs121909492GRCh37Chr 9, 129455806: 129455806
13LMX1BLMX1B, 17-BP DELdeletionPathogenic
14LMX1BLMX1B, 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 pathwaysScoreTop 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

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet