MCID: NLP001
MIFTS: 56

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:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Nail-Patella Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
nail-patella syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 161200
Disease Ontology10 DOID:9467
ICD1027 Q87.2
MeSH36 D009261
NCIt42 C75120
SNOMED-CT59 22199006
Orphanet51 2614
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 D009261
UMLS via Orphanet66 C0027341
MedGen34 C0027341
UMLS65 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. 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 exostoses, patellar aplasia and cubitus valgus. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta), and among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Degradation of the extracellular matrix. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are renal/urinary system and cardiovascular system.

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

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.

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 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1salcedo syndrome11.2
2migraine with or without aura 110.9
3major depressive disorder and accelerated response to antidepressant drug treatment10.9
4adrenal gland pheochromocytoma10.9
5neuronal intestinal dysplasia10.9
6dissociative amnesia10.9
7autonomic nervous system disease10.9
8indeterminate leprosy10.9
9epicondylitis10.9
10reflex sympathetic dystrophy10.9
11alcohol-induced mental disorder10.9
12alcoholic psychosis10.9
13causalgia10.9
14neurodermatitis10.9
15adiposis dolorosa10.9
16vasomotor rhinitis10.9
17dental pulp disease10.9
18sleep disorder10.9
19trigeminal nerve disease10.9
20peripheral nervous system disease10.9
21amphetamine abuse10.9
22cloacogenic carcinoma10.9
23sebaceous gland disease10.9
24disease of mental health10.8
25nasal cavity disease10.8
26antecubital pterygium10.8
27niemann-pick disease10.4
28nephrotic syndrome10.3
29suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.3CD2AP, NPHS2
30glomus tympanicum tumor10.3CD2AP, NPHS2
31spastic hemiplegia10.2CD2AP, NPHS2
32congenital nonhemolytic jaundice10.2CD2AP, NPHS2
33fecal incontinence10.2CD2AP, NPHS2
34autosomal dominant microcephaly10.2COL5A1, COL5A2
35yellow fever10.2COL5A1, COL5A2
36influenza10.2
37localized anterior staphyloma10.2COL5A1, COL5A2
38small patella syndrome10.1
39open-angle glaucoma10.1
40arthropathy10.1
41glaucoma 1, open angle, e10.1
42buschke-ollendorff syndrome10.1
43severe combined immunodeficiency due to ada deficiency10.1COL5A1, COL5A2
44nephrotic syndrome, type 410.1CD2AP, PAX2
45nasopharyngeal carcinoma 210.1CD2AP, NPHS2
46diffuse neonatal hemangiomatosis10.1NPHS2, PAX2
47avian influenza10.0
48ehlers-danlos syndrome, classic type10.0COL5A1, COL5A2
49meacham syndrome10.0CD2AP, NPHS2
50achondroplasia10.0

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:

 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 67)
id Description Frequency HPO Source Accession
1 exostoses hallmark (90%) HP:0100777
2 patellar aplasia hallmark (90%) HP:0006443
3 cubitus valgus hallmark (90%) HP:0002967
4 skeletal dysplasia hallmark (90%) HP:0002652
5 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
6 hypoplastic toenails hallmark (90%) HP:0001800
7 anonychia hallmark (90%) HP:0001798
8 joint hypermobility hallmark (90%) HP:0001382
9 limitation of joint mobility hallmark (90%) HP:0001376
10 abnormality of the fingernails hallmark (90%) HP:0001231
11 sprengel anomaly hallmark (90%) HP:0000912
12 patellar aplasia common (75%) HP:0006443
13 osteoarthritis typical (50%) HP:0002758
14 joint swelling typical (50%) HP:0001386
15 joint dislocation typical (50%) HP:0001373
16 nephrotic syndrome typical (50%) HP:0000100
17 proteinuria typical (50%) HP:0000093
18 glomerulopathy occasional (7.5%) HP:0100820
19 vasculitis occasional (7.5%) HP:0002633
20 hypertension occasional (7.5%) HP:0000822
21 hematuria occasional (7.5%) HP:0000790
22 cataract occasional (7.5%) HP:0000518
23 glaucoma occasional (7.5%) HP:0000501
24 hearing impairment occasional (7.5%) HP:0000365
25 nephropathy occasional (7.5%) HP:0000112
26 renal insufficiency occasional (7.5%) HP:0000083
27 microphakia HP:0012376
28 quadriceps aplasia HP:0009788
29 triceps aplasia HP:0009785
30 biceps aplasia HP:0009783
31 lester's sign HP:0009781
32 iliac horns HP:0009780
33 antecubital pterygium HP:0009760
34 hypoplasia of first ribs HP:0006657
35 thickening of the lateral border of the scapula HP:0006650
36 glenoid fossa hypoplasia HP:0006633
37 disproportionate prominence of the femoral medial condyle HP:0006437
38 elongated radius HP:0006424
39 absence of pectoralis minor muscle HP:0005255
40 short stature HP:0004322
41 clinodactyly of the 5th finger HP:0004209
42 hypoplastic radial head HP:0003997
43 patellar dislocation HP:0002999
44 lumbar hyperlordosis HP:0002938
45 scoliosis HP:0002650
46 spina bifida HP:0002414
47 ridged nail HP:0001807
48 anonychia HP:0001798
49 pes planus HP:0001763
50 talipes equinovarus HP:0001762
51 concave nail HP:0001598
52 limited elbow extension HP:0001377
53 absent distal interphalangeal creases HP:0001032
54 hematuria HP:0000790
55 pectus excavatum HP:0000767
56 keratoconus HP:0000563
57 cataract HP:0000518
58 ptosis HP:0000508
59 glaucoma HP:0000501
60 microcornea HP:0000482
61 sensorineural hearing impairment HP:0000407
62 cleft upper lip HP:0000204
63 cleft palate HP:0000175
64 nephrotic syndrome HP:0000100
65 glomerulonephritis HP:0000099
66 proteinuria HP:0000093
67 renal insufficiency HP:0000083

UMLS symptoms related to Nail-Patella Syndrome:


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

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 LMX1B

Anatomical Context for Nail-Patella Syndrome

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MalaCards organs/tissues related to Nail-Patella Syndrome:

33
Kidney, Eye, Bone, Lung, Prostate, Skin, 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:00053678.0CD2AP, COL4A4, LMX1B, NPHS2, PAX2
2MP:00053857.7AK1, CD2AP, COL5A1, LMX1B, NPHS2, PAX2
3MP:00053917.6ASS1, COL4A4, COL5A1, COL5A2, LMX1B, PAX2
4MP:00107686.2ASS1, CD2AP, COL4A4, COL5A1, COL5A2, LMX1B

Publications for Nail-Patella Syndrome

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Articles related to Nail-Patella Syndrome:

(show top 50)    (show all 229)
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 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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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
1cell-cell junctionGO:00059119.6CD2AP, NPHS2
2protein complexGO:00432349.3CD2AP, NPHS2

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

idNameGO IDScoreTop Affiliating Genes
1skin developmentGO:00435889.3COL5A1, COL5A2
2collagen catabolic processGO:00305749.2COL4A4, COL5A1, COL5A2
3extracellular matrix disassemblyGO:00226179.2COL4A4, COL5A1, COL5A2

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