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:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 51 11 23 47 24 25 53 69 12 49 38 13 67
Fong Disease 11 23 47 24 25
Hereditary Osteo-Onychodysplasia 23 24 25
Turner-Kieser Syndrome 47 25 53
Onychoosteodysplasia 47 53 69
Nail Patella Syndrome 11 26
Hereditary Onycho-Osteodysplasia 25
Hereditary Onychoostedysplasia 11
 
Arthro-Onychodysplasia 47
Turner-Kiser Syndrome 11
Osterreicher Syndrome 25
Osteo-Onychodysplasia 47
Pelvic Horn Syndrome 25
Iliac Horn Syndrome 11
Nps 1 47
Nps 69

Characteristics:

Orphanet epidemiological data:

53
nail-patella syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal

HPO:

63
nail-patella syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: nps is fully penetrant, although the range and severity of symptoms may be extremely variable...


Classifications:



External Ids:

OMIM51 161200
Disease Ontology11 DOID:9467
ICD1029 Q87.2
MeSH38 D009261
NCIt44 C75120
SNOMED-CT61 22199006
Orphanet53 ORPHA2614
ICD10 via Orphanet30 Q87.2
MESH via Orphanet39 D009261
UMLS via Orphanet68 C0027341
MedGen36 C0027341

Summaries for Nail-Patella Syndrome

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NIH Rare Diseases:47 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 niemann-pick disease and salcedo 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 vision/eye.

UniProtKB/Swiss-Prot:69 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Genetics Home Reference:25 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:70 Nail–patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM:51 161200

GeneReviews 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 66)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease11.1
2salcedo syndrome11.0
3glaucoma 1, open angle, e11.0
4buschke-ollendorff syndrome11.0
5pterygium, antecubital11.0
6migraine with or without aura 110.8
7spinocerebellar ataxia 2310.8
8reflex sympathetic dystrophy10.8
9adrenal gland pheochromocytoma10.8
10dissociative amnesia10.8
11autonomic nervous system disease10.8
12indeterminate leprosy10.8
13epicondylitis10.8
14nasal cavity disease10.8
15alcohol-induced mental disorder10.8
16alcoholic psychosis10.8
17neurodermatitis10.8
18vasomotor rhinitis10.8
19dental pulp disease10.8
20sleep disorder10.8
21amphetamine abuse10.8
22cloacogenic carcinoma10.8
23familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.1CD2AP, NPHS2
24suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.0CD2AP, NPHS2
25small patella syndrome10.0
26open-angle glaucoma10.0
27arthropathy10.0
28female stress incontinence10.0CD2AP, NPHS2
29leber congenital amaurosis9.9COL4A4, COL5A1
30achondroplasia9.9
31attention deficit-hyperactivity disorder9.9
32membranous nephropathy9.9
33ewing sarcoma9.9
34patella aplasia-hypoplasia9.9
35oeis complex9.9
36glomerulonephritis9.9
37hereditary hemorrhagic telangiectasia9.9
38osteoarthritis9.9
39omphalocele9.9
40sensorineural hearing loss9.9
41imperforate anus9.9
42sarcoma9.9
43hemolytic-uremic syndrome9.9
44crescentic glomerulonephritis9.9
45diarrhea9.9
46ehlers-danlos syndrome9.9
47eclampsia9.9
48dermatitis9.9
49myopathy9.9
50paget's disease of bone9.9

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

Human phenotypes related to Nail-Patella Syndrome:

 63 53 (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sprengel anomaly63 hallmark (90%) HP:0000912
2 abnormality of the fingernails63 53 hallmark (90%) Very frequent (99-80%) HP:0001231
3 limitation of joint mobility63 hallmark (90%) HP:0001376
4 joint hypermobility63 hallmark (90%) HP:0001382
5 anonychia63 hallmark (90%) HP:0001798
6 hypoplastic toenails63 53 hallmark (90%) Very frequent (99-80%) HP:0001800
7 abnormality of pelvic girdle bone morphology63 hallmark (90%) HP:0002644
8 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
9 cubitus valgus63 53 hallmark (90%) Very frequent (99-80%) HP:0002967
10 patellar aplasia63 hallmark (90%) HP:0006443
11 exostoses63 53 hallmark (90%) Very frequent (99-80%) HP:0100777
12 proteinuria63 53 typical (50%) Frequent (79-30%) HP:0000093
13 nephrotic syndrome63 53 typical (50%) Frequent (79-30%) HP:0000100
14 joint dislocation63 53 typical (50%) Frequent (79-30%) HP:0001373
15 joint swelling63 53 typical (50%) Frequent (79-30%) HP:0001386
16 osteoarthritis63 53 typical (50%) Frequent (79-30%) HP:0002758
17 renal insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0000083
18 nephropathy63 53 occasional (7.5%) Occasional (29-5%) HP:0000112
19 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
20 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
21 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
22 hematuria63 53 occasional (7.5%) Occasional (29-5%) HP:0000790
23 hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0000822
24 vasculitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002633
25 glomerulopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0100820
26 glomerulonephritis63 HP:0000099
27 cleft palate63 HP:0000175
28 cleft upper lip63 HP:0000204
29 sensorineural hearing impairment63 HP:0000407
30 microcornea63 HP:0000482
31 ptosis63 HP:0000508
32 keratoconus63 HP:0000563
33 pectus excavatum63 HP:0000767
34 absent distal interphalangeal creases63 HP:0001032
35 limited elbow extension63 HP:0001377
36 concave nail63 53 Very frequent (99-80%) HP:0001598
37 talipes equinovarus63 HP:0001762
38 pes planus63 HP:0001763
39 ridged nail63 53 Very frequent (99-80%) HP:0001807
40 spina bifida63 HP:0002414
41 scoliosis63 HP:0002650
42 lumbar hyperlordosis63 HP:0002938
43 patellar dislocation63 53 Very frequent (99-80%) HP:0002999
44 hypoplastic radial head63 HP:0003997
45 clinodactyly of the 5th finger63 HP:0004209
46 short stature63 HP:0004322
47 absence of pectoralis minor muscle63 HP:0005255
48 elongated radius63 HP:0006424
49 disproportionate prominence of the femoral medial condyle63 HP:0006437
50 glenoid fossa hypoplasia63 HP:0006633
51 thickening of the lateral border of the scapula63 53 Very frequent (99-80%) HP:0006650
52 hypoplasia of first ribs63 HP:0006657
53 antecubital pterygium63 HP:0009760
54 iliac horns63 53 Very frequent (99-80%) HP:0009780
55 lester's sign63 HP:0009781
56 biceps aplasia63 HP:0009783
57 triceps aplasia63 HP:0009785
58 quadriceps aplasia63 HP:0009788
59 microphakia63 HP:0012376
60 joint stiffness53 Very frequent (99-80%)
61 abnormality of the lower limb53 Frequent (79-30%)
62 abnormality of the upper limb53 Frequent (79-30%)
63 joint hyperflexibility53 Very frequent (99-80%)
64 aplasia/hypoplasia of the patella53 Very frequent (99-80%)
65 abnormality of the toenails53 Very frequent (99-80%)
66 abnormality of the elbow53 Very frequent (99-80%)
67 aplastic/hypoplastic toenail53 Very frequent (99-80%)

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 Syndrome26 24 LMX1B

Anatomical Context for Nail-Patella Syndrome

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MalaCards organs/tissues related to Nail-Patella Syndrome:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7CD2AP, COL4A4, LMX1B, NPHS2, PAX2
2MP:00053918.3ASS1, COL4A4, COL5A1, LMX1B, PAX2
3MP:00053858.0AK1, CD2AP, COL5A1, LMX1B, NPHS2, PAX2
4MP:00107687.4ASS1, 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:

69 (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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1LMX1BNM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter)SNVPathogenicrs864621969GRCh38Chr 9, 126615549: 126615549
2LMX1BNM_002316.3(LMX1B): c.192dupC (p.Asp65Argfs)duplicationLikely pathogenicGRCh38Chr 9, 126615435: 126615435
3LMX1BNM_002316.3(LMX1B): c.807C> A (p.Asn269Lys)SNVPathogenicrs121909486GRCh37Chr 9, 129455868: 129455868
4LMX1BNM_002316.3(LMX1B): c.661C> T (p.Arg221Ter)SNVPathogenicrs121909487GRCh37Chr 9, 129455522: 129455522
5LMX1BLMX1B, 1-BP INS, 713AinsertionPathogenicChr na, -1: -1
6LMX1BNM_002316.3(LMX1B): c.353G> T (p.Cys118Phe)SNVPathogenicrs121909488GRCh37Chr 9, 129453141: 129453141
7LMX1BLMX1B, 2-BP DEL, 233TGdeletionPathogenicChr na, -1: -1
8LMX1BNM_002316.3(LMX1B): c.244C> T (p.Gln82Ter)SNVPathogenicrs121909489GRCh37Chr 9, 129377766: 129377766
9LMX1BNM_002316.3(LMX1B): c.691C> T (p.Arg231Ter)SNVPathogenicrs121909490GRCh37Chr 9, 129455552: 129455552
10LMX1BNM_002316.3(LMX1B): c.668G> A (p.Arg223Gln)SNVPathogenicrs121909491GRCh37Chr 9, 129455529: 129455529
11LMX1BLMX1B, 672, G-A, +1SNVPathogenicChr na, -1: -1
12LMX1BLMX1B, 672, G-T, +1SNVPathogenicChr na, -1: -1
13LMX1BNM_002316.3(LMX1B): c.745C> T (p.Arg249Ter)SNVPathogenicrs121909492GRCh37Chr 9, 129455806: 129455806
14LMX1BLMX1B, 17-BP DELdeletionPathogenicChr na, -1: -1
15LMX1BLMX1B, DELdeletionPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet