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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 52 11 23 48 24 25 54 70 12 50 39 13 68
Fong Disease 11 23 48 24 25
Hereditary Osteo-Onychodysplasia 23 24 25
Turner-Kieser Syndrome 48 25 54
Onychoosteodysplasia 48 54 70
Nail Patella Syndrome 11 27
Hereditary Onycho-Osteodysplasia 25
Hereditary Onychoostedysplasia 11
 
Arthro-Onychodysplasia 48
Turner-Kiser Syndrome 11
Osterreicher Syndrome 25
Osteo-Onychodysplasia 48
Pelvic Horn Syndrome 25
Iliac Horn Syndrome 11
Nps 1 48
Nps 70

Characteristics:

Orphanet epidemiological data:

54
nail-patella syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal

HPO:

64
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:

OMIM52 161200
Disease Ontology11 DOID:9467
ICD1030 Q87.2
MeSH39 D009261
NCIt45 C75120
SNOMED-CT62 22199006
Orphanet54 ORPHA2614
ICD10 via Orphanet31 Q87.2
MESH via Orphanet40 D009261
UMLS via Orphanet69 C0027341
MedGen37 C0027341

Summaries for Nail-Patella Syndrome

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NIH Rare Diseases:48 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.

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.

UniProtKB/Swiss-Prot:70 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Wikipedia:71 Nail–patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM:52 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 & Phenotypes 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:

 64 54 (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sprengel anomaly64 hallmark (90%) HP:0000912
2 abnormality of the fingernails64 54 hallmark (90%) Very frequent (99-80%) HP:0001231
3 limitation of joint mobility64 hallmark (90%) HP:0001376
4 joint hypermobility64 hallmark (90%) HP:0001382
5 anonychia64 hallmark (90%) HP:0001798
6 hypoplastic toenails64 54 hallmark (90%) Very frequent (99-80%) HP:0001800
7 abnormality of pelvic girdle bone morphology64 hallmark (90%) HP:0002644
8 skeletal dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002652
9 cubitus valgus64 54 hallmark (90%) Very frequent (99-80%) HP:0002967
10 patellar aplasia64 hallmark (90%) HP:0006443
11 exostoses64 54 hallmark (90%) Very frequent (99-80%) HP:0100777
12 proteinuria64 54 typical (50%) Frequent (79-30%) HP:0000093
13 nephrotic syndrome64 54 typical (50%) Frequent (79-30%) HP:0000100
14 joint dislocation64 54 typical (50%) Frequent (79-30%) HP:0001373
15 joint swelling64 54 typical (50%) Frequent (79-30%) HP:0001386
16 osteoarthritis64 54 typical (50%) Frequent (79-30%) HP:0002758
17 renal insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0000083
18 nephropathy64 54 occasional (7.5%) Occasional (29-5%) HP:0000112
19 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
20 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
21 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
22 hematuria64 54 occasional (7.5%) Occasional (29-5%) HP:0000790
23 hypertension64 54 occasional (7.5%) Occasional (29-5%) HP:0000822
24 vasculitis64 54 occasional (7.5%) Occasional (29-5%) HP:0002633
25 glomerulopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0100820
26 glomerulonephritis64 HP:0000099
27 cleft palate64 HP:0000175
28 cleft upper lip64 HP:0000204
29 sensorineural hearing impairment64 HP:0000407
30 microcornea64 HP:0000482
31 ptosis64 HP:0000508
32 keratoconus64 HP:0000563
33 pectus excavatum64 HP:0000767
34 absent distal interphalangeal creases64 HP:0001032
35 limited elbow extension64 HP:0001377
36 concave nail64 54 Very frequent (99-80%) HP:0001598
37 talipes equinovarus64 HP:0001762
38 pes planus64 HP:0001763
39 ridged nail64 54 Very frequent (99-80%) HP:0001807
40 spina bifida64 HP:0002414
41 scoliosis64 HP:0002650
42 lumbar hyperlordosis64 HP:0002938
43 patellar dislocation64 54 Very frequent (99-80%) HP:0002999
44 hypoplastic radial head64 HP:0003997
45 clinodactyly of the 5th finger64 HP:0004209
46 short stature64 HP:0004322
47 absence of pectoralis minor muscle64 HP:0005255
48 elongated radius64 HP:0006424
49 disproportionate prominence of the femoral medial condyle64 HP:0006437
50 glenoid fossa hypoplasia64 HP:0006633
51 thickening of the lateral border of the scapula64 54 Very frequent (99-80%) HP:0006650
52 hypoplasia of first ribs64 HP:0006657
53 antecubital pterygium64 HP:0009760
54 iliac horns64 54 Very frequent (99-80%) HP:0009780
55 lester's sign64 HP:0009781
56 biceps aplasia64 HP:0009783
57 triceps aplasia64 HP:0009785
58 quadriceps aplasia64 HP:0009788
59 microphakia64 HP:0012376
60 joint stiffness54 Very frequent (99-80%)
61 abnormality of the lower limb54 Frequent (79-30%)
62 abnormality of the upper limb54 Frequent (79-30%)
63 joint hyperflexibility54 Very frequent (99-80%)
64 aplasia/hypoplasia of the patella54 Very frequent (99-80%)
65 abnormality of the toenails54 Very frequent (99-80%)
66 abnormality of the elbow54 Very frequent (99-80%)
67 aplastic/hypoplastic toenail54 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

MGI Mouse Phenotypes related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

41
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

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 Syndrome27 24 LMX1B

Anatomical Context for Nail-Patella Syndrome

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MalaCards organs/tissues related to Nail-Patella Syndrome:

36
Kidney, Eye, Bone, Skin, Heart, Lymph node, Colon

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
50 Years Ago in The Journal of Pediatrics: The Nail-Patella Syndrome: Clinical and Genetic Aspects of 5 Kindreds with 38 Affected Family Members. (26810100)
2016
4
Radiological characteristics of the knee joint in nail patella syndrome. (27037430)
2016
5
Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. (27247258)
2016
6
Management of patellar problems in skeletally mature patients with nail-patella syndrome. (26872454)
2016
7
Nail-patella syndrome: report of 11 pediatric cases. (27109743)
2016
8
Radiographic findings in the nail-patella syndrome. (26130880)
2015
9
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. (26025008)
2015
10
Median nail damage in nail-patella syndrome associated with triangular lunulae. (26042812)
2015
11
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. (25898926)
2015
12
Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. (26596417)
2015
13
Spontaneous coronary artery dissection in a parturient with Nail-Patella syndrome. (25433575)
2015
14
Nail-patella syndrome. (25763426)
2015
15
Arthropathy and proteinuria: nail-patella syndrome revisited. (25408626)
2014
16
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome. (24720768)
2014
17
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. (25380522)
2014
18
Intercondylar synovial septum in two patients with nail-patella syndrome. (23288746)
2013
19
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. (24029584)
2013
20
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. (23897191)
2013
21
Nail-patella syndrome-a novel mutation in the LMX1B gene. (26064490)
2013
22
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). (24267390)
2013
23
A case of nail-patella syndrome associated with thyrotoxicosis. (22574102)
2012
24
A hypoplastic patella fracture in nail patella syndrome: a case report. (22800460)
2012
25
A case of ectopic cilia in nail-patella syndrome. (22441588)
2012
26
The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree. (21920246)
2011
27
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
28
Nail-patella syndrome. (21952482)
2011
29
Nail patella syndrome: a rare cause of renal failure in a young adult. (22145064)
2011
30
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. (21850167)
2011
31
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
32
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. (21510571)
2010
33
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. (20199424)
2010
34
Renal involvement in nail-patella syndrome: report of three cases. (19296234)
2010
35
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. (20531206)
2010
36
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome. (20880310)
2010
37
Nail-patella syndrome (Fong disease). (20143059)
2010
38
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. (19222527)
2009
39
Kidney disease in nail-patella syndrome. (18535845)
2009
40
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. (19541663)
2009
41
A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. (19721866)
2009
42
Nail patella syndrome. (19907953)
2009
43
Clinico-genetic study of nail-patella syndrome. (19194568)
2009
44
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. (19147669)
2009
45
Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome. (18186852)
2008
46
A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. (18595794)
2008
47
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. (18414507)
2008
48
How are podocytes affected in nail-patella syndrome? (18253764)
2008
49
Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl. (18533963)
2008
50
Nail-patella syndrome and renal involvement. Description of three cases and literature review. (18538102)
2008

Variations for Nail-Patella Syndrome

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

70 (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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet