NPS
MCID: NLP001
MIFTS: 54

Nail-Patella Syndrome (NPS) malady

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

Aliases & Classifications for Nail-Patella Syndrome

Aliases & Descriptions for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 54 12 23 50 24 25 56 66 13 52 42 14 69
Fong Disease 12 23 50 24 25
Hereditary Osteo-Onychodysplasia 23 24 25
Turner-Kieser Syndrome 50 25 56
Onychoosteodysplasia 50 56 66
Nail Patella Syndrome 12 29
Hereditary Onycho-Osteodysplasia 25
Hereditary Onychoostedysplasia 12
Arthro-Onychodysplasia 50
Turner-Kiser Syndrome 12
Osteo-Onychodysplasia 50
Osterreicher Syndrome 25
Pelvic Horn Syndrome 25
Iliac Horn Syndrome 12
Nps 1 50
Nps 66

Characteristics:

Orphanet epidemiological data:

56
nail-patella syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal;

GeneReviews:

23
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:

OMIM 54 161200
Disease Ontology 12 DOID:9467
ICD10 33 Q87.2
MeSH 42 D009261
NCIt 47 C75120
SNOMED-CT 64 22199006
Orphanet 56 ORPHA2614
ICD10 via Orphanet 34 Q87.2
MESH via Orphanet 43 D009261
UMLS via Orphanet 70 C0027341
MedGen 40 C0027341
UMLS 69 C0027341

Summaries for Nail-Patella Syndrome

NIH Rare Diseases : 50 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 joint swelling, joint stiffness and osteoarthritis. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, eye and bone, and related phenotypes are cardiovascular system and mortality/aging

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 : 66 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: 161200
GeneReviews: NBK1132

Related Diseases for Nail-Patella Syndrome

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

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 niemann-pick disease 11.1
2 salcedo syndrome 11.0
3 pterygium, antecubital 11.0
4 glaucoma 1, open angle, e 11.0
5 buschke-ollendorff syndrome 11.0
6 autonomic nervous system disease 10.9
7 neurodermatitis 10.9
8 reflex sympathetic dystrophy 10.9
9 indeterminate leprosy 10.9
10 vasomotor rhinitis 10.9
11 dental pulp disease 10.9
12 sleep disorder 10.9
13 migraine with or without aura 1 10.9
14 adrenal gland pheochromocytoma 10.9
15 amphetamine abuse 10.9
16 epicondylitis 10.9
17 cloacogenic carcinoma 10.9
18 nasal cavity disease 10.9
19 alcohol-induced mental disorder 10.9
20 spinocerebellar ataxia 23 10.9
21 dissociative amnesia 10.9
22 alcoholic psychosis 10.9
23 nose disease 10.8
24 retinitis pigmentosa 67 10.8
25 retinitis pigmentosa 68 10.8
26 diverticulitis of colon 10.8
27 holoprosencephaly-3 10.8
28 disease of mental health 10.8
29 nervous system disease 10.8
30 nephrotic syndrome 10.2
31 renal agenesis, unilateral 10.1 CD2AP NPHS2
32 hematuria, benign familial 10.1 COL4A4 LMX1B
33 sick sinus syndrome 3 10.1 CD2AP NPHS2
34 congenital torticollis 10.1 CD2AP NPHS2
35 focal segmental glomerulosclerosis 10.0 CD2AP NPHS2
36 arthropathy 10.0
37 small patella syndrome 10.0
38 open-angle glaucoma 10.0
39 idiopathic steroid-sensitive nephrotic syndrome with minimal change 10.0 LMX1B PAX2
40 hemiplegia 10.0 CD2AP NPHS2
41 deafness, autosomal recessive 51 10.0 CD2AP NPHS2
42 malignant hyperthermia susceptibility 1 10.0 CD2AP LMX1B NPHS2
43 diprosopia 9.9 NPHS2 PAX2
44 ewing sarcoma 9.9
45 sarcoma 9.9
46 dermatitis 9.9
47 bowen's disease 9.9
48 pectus carinatum 9.9
49 patella aplasia-hypoplasia 9.9
50 ehlers-danlos syndrome type ii 9.9

Graphical network of the top 20 diseases related to Nail-Patella Syndrome:



Diseases related to Nail-Patella Syndrome

Symptoms & Phenotypes for Nail-Patella Syndrome

Symptoms by clinical synopsis from OMIM:

161200

Clinical features from OMIM:

161200

Human phenotypes related to Nail-Patella Syndrome:

56 32 (show top 50) (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 56 32 Frequent (79-30%) HP:0001386
2 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
3 osteoarthritis 56 32 Frequent (79-30%) HP:0002758
4 hypertension 56 32 Occasional (29-5%) HP:0000822
5 hearing impairment 56 32 Occasional (29-5%) HP:0000365
6 cataract 56 32 Occasional (29-5%) HP:0000518
7 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
8 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
9 proteinuria 56 32 Frequent (79-30%) HP:0000093
10 nephropathy 56 32 Occasional (29-5%) HP:0000112
11 exostoses 56 32 Very frequent (99-80%) HP:0100777
12 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
13 cubitus valgus 56 32 Very frequent (99-80%) HP:0002967
14 abnormality of the fingernails 56 32 Very frequent (99-80%) HP:0001231
15 hypoplastic toenails 56 32 Very frequent (99-80%) HP:0001800
16 nephrotic syndrome 56 32 Frequent (79-30%) HP:0000100
17 glomerulopathy 56 32 Occasional (29-5%) HP:0100820
18 hematuria 56 32 Occasional (29-5%) HP:0000790
19 glaucoma 56 32 Occasional (29-5%) HP:0000501
20 patellar dislocation 56 32 Very frequent (99-80%) HP:0002999
21 vasculitis 56 32 Occasional (29-5%) HP:0002633
22 ridged nail 56 32 Very frequent (99-80%) HP:0001807
23 aplasia/hypoplasia of the patella 56 32 Very frequent (99-80%) HP:0006498
24 concave nail 56 32 Very frequent (99-80%) HP:0001598
25 thickening of the lateral border of the scapula 56 32 Very frequent (99-80%) HP:0006650
26 iliac horns 56 32 Very frequent (99-80%) HP:0009780
27 pectus excavatum 32 HP:0000767
28 joint dislocation 56 Frequent (79-30%)
29 ptosis 32 HP:0000508
30 scoliosis 32 HP:0002650
31 pes planus 32 HP:0001763
32 sensorineural hearing impairment 32 HP:0000407
33 short stature 32 HP:0004322
34 cleft palate 32 HP:0000175
35 clinodactyly of the 5th finger 32 HP:0004209
36 anonychia 32 HP:0001798
37 talipes equinovarus 32 HP:0001762
38 spina bifida 32 HP:0002414
39 abnormality of the elbow 56 Very frequent (99-80%)
40 abnormality of the upper limb 56 Frequent (79-30%)
41 cleft upper lip 32 HP:0000204
42 microcornea 32 HP:0000482
43 keratoconus 32 HP:0000563
44 abnormality of the lower limb 56 Frequent (79-30%)
45 abnormality of the toenails 56 Very frequent (99-80%)
46 aplastic/hypoplastic toenail 56 Very frequent (99-80%)
47 lumbar hyperlordosis 32 HP:0002938
48 patellar aplasia 32 HP:0006443
49 antecubital pterygium 32 HP:0009760
50 absent distal interphalangeal creases 32 HP:0001032

UMLS symptoms related to Nail-Patella Syndrome:


arthralgia, metatarsalgia, koilonychia

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 AK1 CD2AP COL5A1 LMX1B NPHS2 PAX2
2 mortality/aging MP:0010768 9.76 CD2AP COL4A4 COL5A1 LMX1B NPHS2 PAX2
3 renal/urinary system MP:0005367 9.35 CD2AP COL4A4 LMX1B NPHS2 PAX2
4 vision/eye MP:0005391 9.02 ASS1 COL4A4 COL5A1 LMX1B PAX2

Drugs & Therapeutics for Nail-Patella Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Heritable Connective Tissue Disorders Completed NCT00001641

Search NIH Clinical Center for Nail-Patella Syndrome

Cochrane evidence based reviews: nail-patella syndrome

Genetic Tests for Nail-Patella Syndrome

Genetic tests related to Nail-Patella Syndrome:

id Genetic test Affiliating Genes
1 Nail-Patella Syndrome 29 24 LMX1B

Anatomical Context for Nail-Patella Syndrome

MalaCards organs/tissues related to Nail-Patella Syndrome:

39
Kidney, Eye, Bone, Skin, Heart, Colon, Lymph Node

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 232)
id Title Authors Year
1
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. ( 28335748 )
2017
2
Management of patellar problems in skeletally mature patients with nail-patella syndrome. ( 26872454 )
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: report of 11 pediatric cases. ( 27109743 )
2016
6
Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. ( 27247258 )
2016
7
Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. ( 27284321 )
2016
8
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. ( 27450397 )
2016
9
Nail-patella syndrome. ( 25763426 )
2015
10
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. ( 26025008 )
2015
11
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. ( 25898926 )
2015
12
Radiographic findings in the nail-patella syndrome. ( 26130880 )
2015
13
Spontaneous coronary artery dissection in a parturient with Nail-Patella syndrome. ( 25433575 )
2015
14
Median nail damage in nail-patella syndrome associated with triangular lunulae. ( 26042812 )
2015
15
Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. ( 26596417 )
2015
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
Arthropathy and proteinuria: nail-patella syndrome revisited. ( 25408626 )
2014
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 novel mutation in the LMX1B gene. ( 26064490 )
2013
21
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. ( 23897191 )
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
Intercondylar synovial septum in two patients with nail-patella syndrome. ( 23288746 )
2013
24
A case of nail-patella syndrome associated with thyrotoxicosis. ( 22574102 )
2012
25
A case of ectopic cilia in nail-patella syndrome. ( 22441588 )
2012
26
A hypoplastic patella fracture in nail patella syndrome: a case report. ( 22800460 )
2012
27
Nail-patella syndrome. ( 21952482 )
2011
28
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
29
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. ( 21850167 )
2011
30
The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree. ( 21920246 )
2011
31
Nail patella syndrome: a rare cause of renal failure in a young adult. ( 22145064 )
2011
32
Nail-patella syndrome associated with short stature: a case series. ( 20811572 )
2010
33
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome. ( 20880310 )
2010
34
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. ( 21510571 )
2010
35
Renal involvement in nail-patella syndrome: report of three cases. ( 19296234 )
2010
36
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. ( 20531206 )
2010
37
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. ( 20199424 )
2010
38
Nail-patella syndrome (Fong disease). ( 20143059 )
2010
39
Kidney disease in nail-patella syndrome. ( 18535845 )
2009
40
Nail patella syndrome. ( 19907953 )
2009
41
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. ( 19541663 )
2009
42
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. ( 19222527 )
2009
43
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. ( 19147669 )
2009
44
A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. ( 19721866 )
2009
45
Clinico-genetic study of nail-patella syndrome. ( 19194568 )
2009
46
A novel LMX1B nonsense mutation in a family with nail-patella syndrome. ( 18562181 )
2008
47
Nail-patella syndrome and renal involvement. Description of three cases and literature review. ( 18538102 )
2008
48
A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. ( 18595794 )
2008
49
Nail patella syndrome. ( 18543759 )
2008
50
Gene symbol: LMX1B. Disease: Nail-patella syndrome. ( 18846612 )
2008

Variations for Nail-Patella Syndrome

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

66 (show all 30)
id Symbol AA change Variation ID SNP ID
1 LMX1B p.Cys118Phe VAR_004198 rs121909488
2 LMX1B p.Cys165Trp VAR_004199
3 LMX1B p.Arg223Gln VAR_004200 rs28939692
4 LMX1B p.Ala236Pro VAR_004201
5 LMX1B p.Ser241Pro VAR_004202
6 LMX1B p.Arg249Pro VAR_004203
7 LMX1B p.Ala253Val VAR_004204
8 LMX1B p.Asn269Lys VAR_004205 rs121909486
9 LMX1B p.His77Asn VAR_015190
10 LMX1B p.Leu81Trp VAR_015191
11 LMX1B p.Cys83Phe VAR_015192
12 LMX1B p.Cys83Trp VAR_015193
13 LMX1B p.Cys103Trp VAR_015194
14 LMX1B p.Cys118Tyr VAR_015195
15 LMX1B p.His137Tyr VAR_015196
16 LMX1B p.Cys140Tyr VAR_015197
17 LMX1B p.Trp266Cys VAR_015198
18 LMX1B p.Cys59Arg VAR_015201
19 LMX1B p.Cys59Ser VAR_015202
20 LMX1B p.His77Gln VAR_015203
21 LMX1B p.His77Tyr VAR_015204
22 LMX1B p.Cys80Arg VAR_015205
23 LMX1B p.Cys83Gly VAR_015206
24 LMX1B p.Cys83Tyr VAR_015207
25 LMX1B p.Cys86Arg VAR_015208
26 LMX1B p.Asp106Gly VAR_015209
27 LMX1B p.Cys143Ser VAR_015210
28 LMX1B p.Cys146Phe VAR_015211
29 LMX1B p.Cys146Tyr VAR_015212
30 LMX1B p.Leu252Pro VAR_015213

ClinVar genetic disease variations for Nail-Patella Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 LMX1B NM_002316.3(LMX1B): c.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 GRCh37 Chromosome 9, 129455868: 129455868
2 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh37 Chromosome 9, 129455522: 129455522
3 LMX1B LMX1B, 1-BP INS, 713A insertion Pathogenic
4 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh37 Chromosome 9, 129453141: 129453141
5 LMX1B LMX1B, 2-BP DEL, 233TG deletion Pathogenic
6 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh37 Chromosome 9, 129377766: 129377766
7 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh37 Chromosome 9, 129455552: 129455552
8 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh37 Chromosome 9, 129455529: 129455529
9 LMX1B LMX1B, 672, G-A, +1 single nucleotide variant Pathogenic
10 LMX1B LMX1B, 672, G-T, +1 single nucleotide variant Pathogenic
11 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh37 Chromosome 9, 129455806: 129455806
12 LMX1B LMX1B, 17-BP DEL deletion Pathogenic
13 LMX1B LMX1B, DEL deletion Pathogenic
14 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh38 Chromosome 9, 126615549: 126615549
15 LMX1B NM_002316.3(LMX1B): c.192dupC (p.Asp65Argfs) duplication Likely pathogenic rs1057516196 GRCh38 Chromosome 9, 126615435: 126615435

Expression for Nail-Patella Syndrome

Search GEO for disease gene expression data for Nail-Patella Syndrome.

Pathways for Nail-Patella Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.89 CD2AP COL4A4 LMX1B NPHS2 PAX2
2 10.37 CD2AP NPHS2

GO Terms for Nail-Patella Syndrome

Cellular components related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.96 COL4A4 COL5A1
2 basement membrane GO:0005604 8.62 COL4A4 COL5A1

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

id Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 8.62 COL4A4 COL5A1

Molecular functions related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL4A4 COL5A1

Sources for Nail-Patella Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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