MCID: NLP001
MIFTS: 58

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, 65UMLS, 24GTR, 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 eye, kidney 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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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

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
Eye, Kidney, Bone, Breast, Liver, Prostate, Skin

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 223)
idTitleAuthorsYear
1
UPRT, a suicide-gene therapy candidate in higher eukaryotes, is required for Drosophila larval growth and normal adult lifespan. (26271729)
2015
2
TGF-I^1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease. (25399301)
2015
3
Editorial: TRIGGERS and Premonitory Features in Migraine. (25399859)
2014
4
Selective 12-lipoxygenase inhibition potentiates the effect of radiation on human prostate cancer cells in vitro and in vivo]. (25260086)
2014
5
High Intensity Focused Ultrasound Treatment for Patients with Local Advanced Pancreatic Cancer. (24088318)
2013
6
Differential expression of testin and survivin in breast cancer subtypes. (23715752)
2013
7
Astigmatism and its role in emmetropization. (23644224)
2013
8
Autoimmune hepatitis in a patient affected by neuromyelitis optica: A new association. (24070901)
2013
9
Comment to "atorvastatin improves disease activity of nonalcoholic steatohepatitis partly through its tumour necrosis factor-I+-lowering property". (23058851)
2013
10
Interferon Inducible Protein IFI35 Negatively Regulates RIG-I Antiviral Signaling and Supports Vesicular Stomatitis Virus Replication. (24371060)
2013
11
Childhood lead poisoning in China: challenges and opportunities. (24218672)
2013
12
Contained versus uncontained lesions in juvenile elbow osteochondritis dissecans. (22411324)
2012
13
Expression of the autoimmunity associated TNFAIP3 is increased in rheumatoid arthritis but does not differ according to genotype at 6q23. (22623711)
2012
14
Scapular osteochondroma treated with arthroscopic excision using prone positioning. (20396684)
2010
15
Hydronephrosis caused by ureterosciatic herniation. (20350759)
2010
16
Effect of chorioamnionitis on brain development and injury in premature newborns. (19743455)
2009
17
Recurrent disease following liver transplantation for nonalcoholic steatohepatitis cirrhosis. (19938117)
2009
18
Retinoic acids induce neurosteroid biosynthesis in human glial GI-1 Cells via the induction of steroidogenic genes. (19744992)
2009
19
Single versus dual renal transplantation from donors with significant arteriosclerosis on pre-implant biopsy. (19681976)
2009
20
Postrenal transplant hemolytic uremic syndrome/thrombotic microangiopathy: Ahmedabad experience. (18555127)
2008
21
Nocturnal glucose metabolism after bedtime injection of insulin glargine or neutral protamine hagedorn insulin in patients with type 2 diabetes. (18611975)
2008
22
Glucocorticoid-stimulated preadipocyte differentiation is mediated through acetylation of C/EBPbeta by GCN5. (17301242)
2007
23
Low-dose risperidone augmentation of antidepressants or anxiolytics is associated with hyperprolactinemia. (17187006)
2006
24
Cytokines, GM-CSF and IFNgamma administered by priming and post-chemotherapy cycling in recurrent ovarian cancer patients receiving carboplatin. (16603073)
2006
25
Phospholipid storage in the myocardium of a unique Japanese case of idiopathic cardiomyopathy. (16753138)
2006
26
Involvement of the serine/threonine p70S6 kinase in TGF-beta1-induced ADAM12 expression in cultured human hepatic stellate cells. (16139919)
2005
27
Isolation and characterization of a human putative receptor protein kinase cDNA STYK1. (12841579)
2003
28
Evidence for involvement of the putative first extracellular loop in differential volume sensitivity of the Na+/H+ exchangers NHE1 and NHE2. (12549930)
2003
29
Hepatocyte growth factor gene therapy and angiotensin II blockade synergistically attenuate renal interstitial fibrosis in mice. (12239235)
2002
30
Characterization of the human PPARalpha promoter: identification of a functional nuclear receptor response element. (11981036)
2002
31
Hantavirus pulmonary syndrome in the State of SALo Paulo, Brazil, 1993-1998. (12653146)
2001
32
Molecular biology of the CRH receptors-- in the mood. (11337088)
2001
33
Treatment and 9-year outcome of butane-induced psychotic disorder in a butane-dependent Japanese male adolescent. (11285098)
2001
34
Elastase deficiency phenotype of Pseudomonas aeruginosa canine otitis externa isolates. (11329471)
2001
35
Differential modulation of interleukin-4 and interleukin-13 secretion from human peripheral blood mononuclear cells. (10482356)
1999
36
Differential presentation of glutamic acid decarboxylase 65 (GAD65) T cell epitopes among HLA-DRB1*0401-positive individuals. (10415074)
1999
37
Pick's disease: selective occurrence of apolipoprotein E-immunoreactive Pick bodies in the limbic system. (9452816)
1998
38
Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region. (9634500)
1998
39
Role of endoscopic retrograde cholangiopancreatography for suspected choledocholithiasis in patients undergoing laparoscopic cholecystectomy. (9468423)
1998
40
Diagnostic problems in chronic eosinophilic pneumonia. (9283992)
1997
41
Renal and depressor activities of inhibitors of neutral endopeptidase and angiotensin converting enzyme in monkeys infused with angiotensin II. (8945678)
1996
42
The early diagnosis of reactive arthritis. (8959919)
1996
43
Partial splenic embolisation and improvement of hypersplenism before liver transplantation. (7741576)
1995
44
Wavelength specificity of photoparoxysmal responses in idiopathic generalized epilepsy. (7588452)
1995
45
Muscle cramping in phase I clinical trials of tirapazamine (SR 4233) with and without radiation. (8195037)
1994
46
Parachordoma of the buttock: an immunohistochemical case study and review. (7530308)
1994
47
Short and long-term effects of growth hormone treatment on bone turnover and bone mineral content in adult growth hormone-deficient males. (8287567)
1993
48
Cauda equina syndrome after surgical treatment of lumbar spinal stenosis with application of free autogenous fat graft. A report of two cases. (2760085)
1989
49
Surgery of choanal atresia in infants and children: historical notes and updated review. (3744697)
1986
50
Galactosemia. (5540562)
1971

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