NPS
MCID: NLP001
MIFTS: 54

Nail-Patella Syndrome (NPS)

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

Aliases & Classifications for Nail-Patella Syndrome

MalaCards integrated aliases for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Turner-Kieser Syndrome 58 77 54 26 60
Fong Disease 58 12 25 54 26
Onychoosteodysplasia 58 54 60 76
Hereditary Osteo-Onychodysplasia 25 26
Nps 58 76
Hereditary Onycho-Osteodysplasia 26
Hereditary Onychoostedysplasia 12
Arthro-Onychodysplasia 54
Nail Patella Syndrome 12
Turner-Kiser Syndrome 12
Osteo-Onychodysplasia 54
Osterreicher Syndrome 26
Pelvic Horn Syndrome 26
Iliac Horn Syndrome 12
Nps 1 54
Nps1 58

Characteristics:

Orphanet epidemiological data:

60
nail-patella syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
nail-patella syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Nps is fully penetrant, although the range and severity of symptoms may be extremely variable...

Classifications:



Summaries for Nail-Patella Syndrome

NIH Rare Diseases : 54 Nail-patella syndrome causes changes in the nails, elbows, kneecaps (patellae), and hip bone. The most common symptom of the syndrome is having missing or underdeveloped fingernails and toenails. Other symptoms may include having small or missing kneecaps, underdeveloped elbows, and an extra small piece of bone on both sides of the hip (called iliac horns). People with nail-patella syndrome are at an increased risk for developing high fluid pressure in the eye (glaucoma) and kidney disease.  Nail-patella syndrome is caused by genetic changes (pathogenic variants or mutations) in the LMX1B gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis is usually suspected when a person has symptoms of the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for nail-patella syndrome may include physical therapy or surgery for joint problems. Other treatments depend on the symptoms present in each person. 

MalaCards based summary : Nail-Patella Syndrome, also known as turner-kieser syndrome, is related to renal dysplasia and membranous nephropathy, and has symptoms including arthralgia, metatarsalgia and koilonychia. 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, bone and eye, and related phenotypes are skeletal dysplasia and joint stiffness

Genetics Home Reference : 26 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 : 76 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Wikipedia : 77 Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and... 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 199)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 29.9 PAX2 LMX1B
2 membranous nephropathy 29.7 NPHS2 CD2AP
3 kidney disease 28.9 PAX2 NPHS2 LMX1B COL4A4 CD2AP
4 pterygium, antecubital 11.6
5 anxiety 11.6
6 niemann-pick disease 11.5
7 niemann-pick disease, type c1 11.4
8 nail-patella-like renal disease 11.3
9 salcedo syndrome 11.3
10 buschke-ollendorff syndrome 11.3
11 holoprosencephaly 3 11.1
12 perry syndrome 11.1
13 reflex sympathetic dystrophy 11.1
14 spinocerebellar ataxia 23 11.1
15 retinitis pigmentosa 68 11.1
16 bardet-biedl syndrome 14 11.1
17 neuronal intestinal dysplasia 11.1
18 dissociative amnesia 11.1
19 autonomic nervous system disease 11.1
20 diverticulitis of colon 11.1
21 epicondylitis 11.1
22 alcohol-induced mental disorder 11.1
23 alcoholic psychosis 11.1
24 neurodermatitis 11.1
25 persian gulf syndrome 11.1
26 vasomotor rhinitis 11.1
27 dental pulp disease 11.1
28 sleep disorder 11.1
29 amphetamine abuse 11.1
30 cloacogenic carcinoma 11.1
31 pruritus, hereditary localized 11.1
32 marfanoid-progeroid-lipodystrophy syndrome 11.1
33 necrotizing ulcerative gingivitis 11.1
34 notalgia paresthetica 11.1
35 migraine with or without aura 1 10.9
36 body mass index quantitative trait locus 11 10.9
37 disease of mental health 10.9
38 nasal cavity disease 10.9
39 nose disease 10.9
40 nephrotic syndrome 10.5
41 influenza 10.4
42 avian influenza 10.2
43 ischiocoxopodopatellar syndrome 10.2
44 open-angle glaucoma 10.2
45 iga glomerulonephritis 10.2
46 arthropathy 10.2
47 tetralogy of fallot 10.1
48 primary orthostatic tremor 10.1
49 achondroplasia 10.1
50 atrial standstill 1 10.1

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



Diseases related to Nail-Patella Syndrome

Symptoms & Phenotypes for Nail-Patella Syndrome

Human phenotypes related to Nail-Patella Syndrome:

60 33 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 exostoses 60 33 hallmark (90%) Very frequent (99-80%) HP:0100777
4 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
5 cubitus valgus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002967
6 hypoplastic toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800
7 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231
8 patellar dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002999
9 ridged nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001807
10 aplasia/hypoplasia of the patella 60 33 hallmark (90%) Very frequent (99-80%) HP:0006498
11 concave nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001598
12 thickening of the lateral border of the scapula 60 33 hallmark (90%) Very frequent (99-80%) HP:0006650
13 iliac horns 60 33 hallmark (90%) Very frequent (99-80%) HP:0009780
14 osteoarthritis 60 33 frequent (33%) Frequent (79-30%) HP:0002758
15 proteinuria 60 33 frequent (33%) Frequent (79-30%) HP:0000093
16 joint swelling 60 33 frequent (33%) Frequent (79-30%) HP:0001386
17 nephrotic syndrome 60 33 frequent (33%) Frequent (79-30%) HP:0000100
18 patellar aplasia 33 frequent (33%) HP:0006443
19 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
20 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
21 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
22 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
23 nephropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000112
24 glomerulopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100820
25 hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000790
26 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
27 vasculitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002633
28 pectus excavatum 33 HP:0000767
29 joint dislocation 60 Frequent (79-30%)
30 ptosis 33 HP:0000508
31 scoliosis 33 HP:0002650
32 pes planus 33 HP:0001763
33 sensorineural hearing impairment 33 HP:0000407
34 short stature 33 HP:0004322
35 cleft palate 33 HP:0000175
36 talipes equinovarus 33 HP:0001762
37 clinodactyly of the 5th finger 33 HP:0004209
38 anonychia 33 HP:0001798
39 spina bifida 33 HP:0002414
40 abnormality of the elbow 60 Very frequent (99-80%)
41 abnormality of the upper limb 60 Frequent (79-30%)
42 cleft upper lip 33 HP:0000204
43 microcornea 33 HP:0000482
44 keratoconus 33 HP:0000563
45 abnormality of the lower limb 60 Frequent (79-30%)
46 abnormal toenail morphology 60 Very frequent (99-80%)
47 aplastic/hypoplastic toenail 60 Very frequent (99-80%)
48 lumbar hyperlordosis 33 HP:0002938
49 microphakia 33 HP:0012376
50 glomerulonephritis 33 HP:0000099

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
cataract
glaucoma
microcornea
keratoconus
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Feet:
talipes equinovarus

Neurologic Central Nervous System:
spina bifida

Chest Ribs Sternum Clavicles And Scapulae:
thickening of the lateral border of the scapula
glenoid hypoplasia
malformed sternum
hypoplasia of first ribs

Head And Neck Ears:
sensorineural hearing loss

Muscle Soft Tissue:
pectoralis minor aplasia
biceps aplasia
triceps aplasia
quadriceps aplasia

Skeletal Spine:
scoliosis
spina bifida

Laboratory Abnormalities:
proteinuria
hematuria

Genitourinary Kidneys:
nephrotic syndrome
glomerulonephritis
renal failure

Skin Nails Hair Nails:
anonychia
longitudinal ridging
koilonychia
abnormally shaped triangular or absent lunulae
slow nail growth
more
Skeletal Limbs:
patellar dislocation
elongated radius with hypoplasia of radial head
elbow deformities (60-90%) with limited range of motion
hypoplastic or absent patella (60-90%)
disproportionate prominence of the femoral medial condyle

Skeletal Hands:
fifth finger clinodactyly

Skeletal Pelvis:
iliac horns arising from external iliac fossa

Clinical features from OMIM:

161200

UMLS symptoms related to Nail-Patella Syndrome:


arthralgia, metatarsalgia, koilonychia

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

47
# 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 ASS1 CD2AP COL4A4 COL5A1 LMX1B NPHS2
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:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Nail-Patella Syndrome 30 LMX1B

Anatomical Context for Nail-Patella Syndrome

MalaCards organs/tissues related to Nail-Patella Syndrome:

42
Kidney, Bone, Eye, Testes, Skin, Heart, Lymph Node

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 251)
# Title Authors Year
1
Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report. ( 30627596 )
2019
2
Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome. ( 30881852 )
2019
3
Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy. ( 29515307 )
2018
4
Nail-patella syndrome: clinical clues for making the diagnosis. ( 29554154 )
2018
5
Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. ( 29664512 )
2018
6
Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12. ( 29594322 )
2018
7
Schizophrenia and Nail Patella Syndrome: The Dopamine Connection. ( 30084575 )
2018
8
Nail-patella syndrome. ( 30168496 )
2018
9
Total knee arthroplasty in a patient with nail-patella syndrome (NPS). ( 30503662 )
2018
10
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. ( 28335748 )
2017
11
A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. ( 29290531 )
2017
12
Prenatal diagnosis of nail patella syndrome: A case report. ( 29089684 )
2017
13
AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy. ( 28941488 )
2017
14
Nail-patella syndrome. ( 28681095 )
2017
15
Radiological characteristics of the knee joint in nail patella syndrome. ( 27037430 )
2016
16
Management of patellar problems in skeletally mature patients with nail-patella syndrome. ( 26872454 )
2016
17
Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. ( 27247258 )
2016
18
Nail-patella syndrome: report of 11 pediatric cases. ( 27109743 )
2016
19
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
20
Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. ( 27284321 )
2016
21
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. ( 27450397 )
2016
22
Median nail damage in nail-patella syndrome associated with triangular lunulae. ( 26042812 )
2015
23
Radiographic findings in the nail-patella syndrome. ( 26130880 )
2015
24
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. ( 25898926 )
2015
25
Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. ( 26596417 )
2015
26
Spontaneous coronary artery dissection in a parturient with Nail-Patella syndrome. ( 25433575 )
2015
27
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. ( 26025008 )
2015
28
Nail-patella syndrome. ( 25763426 )
2015
29
Arthropathy and proteinuria: nail-patella syndrome revisited. ( 25408626 )
2014
30
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome. ( 24720768 )
2014
31
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. ( 25380522 )
2014
32
Intercondylar synovial septum in two patients with nail-patella syndrome. ( 23288746 )
2013
33
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). ( 24267390 )
2013
34
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. ( 24029584 )
2013
35
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. ( 23897191 )
2013
36
Nail-patella syndrome-a novel mutation in the LMX1B gene. ( 26064490 )
2013
37
A case of ectopic cilia in nail-patella syndrome. ( 22441588 )
2012
38
A case of nail-patella syndrome associated with thyrotoxicosis. ( 22574102 )
2012
39
A hypoplastic patella fracture in nail patella syndrome: a case report. ( 22800460 )
2012
40
Nail patella syndrome: a rare cause of renal failure in a young adult. ( 22145064 )
2011
41
Nail-patella syndrome. ( 21952482 )
2011
42
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. ( 21850167 )
2011
43
The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree. ( 21920246 )
2011
44
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
45
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. ( 20531206 )
2010
46
Nail-patella syndrome associated with short stature: a case series. ( 20811572 )
2010
47
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome. ( 20880310 )
2010
48
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. ( 20199424 )
2010
49
Nail-patella syndrome (Fong disease). ( 20143059 )
2010
50
Renal involvement in nail-patella syndrome: report of three cases. ( 19296234 )
2010

Variations for Nail-Patella Syndrome

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

76 (show all 30)
# 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 rs121909491
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 top 50) (show all 300)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh38 Chromosome 9, 126615549: 126615549
2 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh37 Chromosome 9, 129377828: 129377828
3 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh38 Chromosome 9, 126693527: 126693527
4 LMX1B LMX1B, 17-BP DEL deletion Pathogenic
5 LMX1B LMX1B, DEL deletion Pathogenic
6 LMX1B NM_002316.3(LMX1B): c.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 GRCh37 Chromosome 9, 129455868: 129455868
7 LMX1B NM_002316.3(LMX1B): c.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 GRCh38 Chromosome 9, 126693589: 126693589
8 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh37 Chromosome 9, 129455522: 129455522
9 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh38 Chromosome 9, 126693243: 126693243
10 LMX1B LMX1B, 1-BP INS, 713A insertion Pathogenic
11 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh37 Chromosome 9, 129453141: 129453141
12 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh38 Chromosome 9, 126690862: 126690862
13 LMX1B LMX1B, 2-BP DEL, 233TG deletion Pathogenic
14 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh37 Chromosome 9, 129377766: 129377766
15 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh38 Chromosome 9, 126615487: 126615487
16 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh37 Chromosome 9, 129455552: 129455552
17 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh38 Chromosome 9, 126693273: 126693273
18 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh37 Chromosome 9, 129455529: 129455529
19 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh38 Chromosome 9, 126693250: 126693250
20 LMX1B LMX1B, 672, G-A, +1 single nucleotide variant Pathogenic
21 LMX1B LMX1B, 672, G-T, +1 single nucleotide variant Pathogenic
22 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh37 Chromosome 9, 129455806: 129455806
23 LMX1B NM_002316.3(LMX1B): c.326+7G> C single nucleotide variant Benign rs1336980 GRCh37 Chromosome 9, 129377855: 129377855
24 LMX1B NM_002316.3(LMX1B): c.326+7G> C single nucleotide variant Benign rs1336980 GRCh38 Chromosome 9, 126615576: 126615576
25 LMX1B NM_002316.3(LMX1B): c.441A> G (p.Glu147=) single nucleotide variant Benign rs2277158 GRCh37 Chromosome 9, 129453229: 129453229
26 LMX1B NM_002316.3(LMX1B): c.441A> G (p.Glu147=) single nucleotide variant Benign rs2277158 GRCh38 Chromosome 9, 126690950: 126690950
27 LMX1B NM_002316.3(LMX1B): c.726G> C (p.Ser242=) single nucleotide variant Benign rs13295990 GRCh37 Chromosome 9, 129455587: 129455587
28 LMX1B NM_002316.3(LMX1B): c.726G> C (p.Ser242=) single nucleotide variant Benign rs13295990 GRCh38 Chromosome 9, 126693308: 126693308
29 LMX1B NM_002316.3(LMX1B): c.930G> A (p.Thr310=) single nucleotide variant Benign/Likely benign rs112171815 GRCh37 Chromosome 9, 129458161: 129458161
30 LMX1B NM_002316.3(LMX1B): c.930G> A (p.Thr310=) single nucleotide variant Benign/Likely benign rs112171815 GRCh38 Chromosome 9, 126695882: 126695882
31 LMX1B NM_002316.3(LMX1B): c.1086C> T (p.Ser362=) single nucleotide variant Benign rs10115304 GRCh37 Chromosome 9, 129458628: 129458628
32 LMX1B NM_002316.3(LMX1B): c.1086C> T (p.Ser362=) single nucleotide variant Benign rs10115304 GRCh38 Chromosome 9, 126696349: 126696349
33 LMX1B NM_002316.3(LMX1B): c.459C> T (p.Gly153=) single nucleotide variant Uncertain significance rs779330478 GRCh38 Chromosome 9, 126690968: 126690968
34 LMX1B NM_002316.3(LMX1B): c.459C> T (p.Gly153=) single nucleotide variant Uncertain significance rs779330478 GRCh37 Chromosome 9, 129453247: 129453247
35 LMX1B NM_002316.3(LMX1B): c.552C> T (p.Ser184=) single nucleotide variant Likely benign rs142488434 GRCh38 Chromosome 9, 126691061: 126691061
36 LMX1B NM_002316.3(LMX1B): c.552C> T (p.Ser184=) single nucleotide variant Likely benign rs142488434 GRCh37 Chromosome 9, 129453340: 129453340
37 LMX1B NM_002316.3(LMX1B): c.628G> A (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh38 Chromosome 9, 126693210: 126693210
38 LMX1B NM_002316.3(LMX1B): c.628G> A (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh37 Chromosome 9, 129455489: 129455489
39 LMX1B NM_002316.3(LMX1B): c.628G> C (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh38 Chromosome 9, 126693210: 126693210
40 LMX1B NM_002316.3(LMX1B): c.628G> C (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh37 Chromosome 9, 129455489: 129455489
41 LMX1B NM_002316.3(LMX1B): c.741+14G> A single nucleotide variant Uncertain significance rs527313096 GRCh38 Chromosome 9, 126693337: 126693337
42 LMX1B NM_002316.3(LMX1B): c.741+14G> A single nucleotide variant Uncertain significance rs527313096 GRCh37 Chromosome 9, 129455616: 129455616
43 LMX1B NM_002316.3(LMX1B): c.742-7G> C single nucleotide variant Uncertain significance rs534963836 GRCh38 Chromosome 9, 126693517: 126693517
44 LMX1B NM_002316.3(LMX1B): c.742-7G> C single nucleotide variant Uncertain significance rs534963836 GRCh37 Chromosome 9, 129455796: 129455796
45 LMX1B NM_002316.3(LMX1B): c.1131C> T (p.Arg377=) single nucleotide variant Uncertain significance rs146476348 GRCh37 Chromosome 9, 129458673: 129458673
46 LMX1B NM_002316.3(LMX1B): c.1131C> T (p.Arg377=) single nucleotide variant Uncertain significance rs146476348 GRCh38 Chromosome 9, 126696394: 126696394
47 LMX1B NM_002316.3(LMX1B): c.*27G> A single nucleotide variant Benign rs10115373 GRCh37 Chromosome 9, 129458757: 129458757
48 LMX1B NM_002316.3(LMX1B): c.*27G> A single nucleotide variant Benign rs10115373 GRCh38 Chromosome 9, 126696478: 126696478
49 LMX1B NM_002316.3(LMX1B): c.*232C> T single nucleotide variant Uncertain significance rs551852198 GRCh37 Chromosome 9, 129458962: 129458962
50 LMX1B NM_002316.3(LMX1B): c.*232C> T single nucleotide variant Uncertain significance rs551852198 GRCh38 Chromosome 9, 126696683: 126696683

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:

# 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:

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

Sources for Nail-Patella Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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38 KEGG
39 LifeMap
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45 MeSH
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50 NCI
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55 NINDS
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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