MCID: NLP001
MIFTS: 55

Nail-Patella Syndrome

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

Aliases & Classifications for Nail-Patella Syndrome

MalaCards integrated aliases for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 57 12 24 53 25 59 75 29 13 55 6 44 15 40 73
Fong Disease 57 12 24 53 25
Turner-Kieser Syndrome 57 53 25 59
Onychoosteodysplasia 57 53 59 75
Hereditary Osteo-Onychodysplasia 24 25
Nps 57 75
Hereditary Onycho-Osteodysplasia 25
Hereditary Onychoostedysplasia 12
Arthro-Onychodysplasia 53
Nail Patella Syndrome 12
Turner-Kiser Syndrome 12
Osteo-Onychodysplasia 53
Osterreicher Syndrome 25
Pelvic Horn Syndrome 25
Iliac Horn Syndrome 12
Nps 1 53
Nps1 57

Characteristics:

Orphanet epidemiological data:

59
nail-patella syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nail-patella syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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 symptom 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 fong disease, is related to iga glomerulonephritis and renal dysplasia, 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 bone, kidney and eye, and related phenotypes are osteoarthritis and hypertension

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 : 75 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Wikipedia : 76 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 103)
# Related Disease Score Top Affiliating Genes
1 iga glomerulonephritis 29.7 CD2AP NPHS2
2 renal dysplasia 29.7 LMX1B PAX2
3 membranous nephropathy 29.1 CD2AP NPHS2
4 kidney disease 27.6 CD2AP COL4A4 LMX1B NPHS2 PAX2
5 pterygium, antecubital 11.4
6 anxiety 11.4
7 niemann-pick disease 11.4
8 niemann-pick disease, type c1 11.2
9 nail-patella-like renal disease 11.2
10 salcedo syndrome 11.2
11 buschke-ollendorff syndrome 11.1
12 holoprosencephaly 3 10.9
13 perry syndrome 10.9
14 reflex sympathetic dystrophy 10.9
15 spinocerebellar ataxia 23 10.9
16 retinitis pigmentosa 68 10.9
17 dissociative amnesia 10.9
18 autonomic nervous system disease 10.9
19 indeterminate leprosy 10.9
20 diverticulitis of colon 10.9
21 epicondylitis 10.9
22 alcohol-induced mental disorder 10.9
23 alcoholic psychosis 10.9
24 neurodermatitis 10.9
25 dental pulp disease 10.9
26 sleep disorder 10.9
27 amphetamine abuse 10.9
28 cloacogenic carcinoma 10.9
29 sebaceous gland disease 10.9
30 pruritus, hereditary localized 10.9
31 marfan lipodystrophy syndrome 10.9
32 necrotizing ulcerative gingivitis 10.9
33 notalgia paresthetica 10.9
34 migraine with or without aura 1 10.8
35 disease of mental health 10.8
36 nasal cavity disease 10.8
37 narcolepsy 10.8
38 nephrotic syndrome 10.3
39 influenza 10.2
40 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.2 CD2AP NPHS2
41 atrial septal defect 3 10.1 CD2AP NPHS2
42 familial nephrotic syndrome 10.1 CD2AP NPHS2
43 nephrotic syndrome, type 1 10.1 CD2AP NPHS2
44 ischiocoxopodopatellar syndrome 10.1
45 open-angle glaucoma 10.1
46 arthropathy 10.1
47 lipoid nephrosis 10.1 CD2AP NPHS2
48 alport syndrome, autosomal recessive 10.1 COL4A4 LMX1B
49 aging 10.0
50 avian influenza 10.0

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
cataract
glaucoma
microcornea
keratoconus
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip

Skin Nails Hair Nails:
anonychia
longitudinal ridging
abnormally shaped triangular or absent lunulae
slow nail growth
koilonychia
more
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
renal failure
glomerulonephritis

Skeletal Feet:
talipes equinovarus

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

Human phenotypes related to Nail-Patella Syndrome:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
3 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
7 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
8 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
9 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
10 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
11 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
12 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
13 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
14 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
15 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
16 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
17 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
18 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
19 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
20 patellar dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002999
21 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
22 ridged nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001807
23 aplasia/hypoplasia of the patella 59 32 hallmark (90%) Very frequent (99-80%) HP:0006498
24 concave nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001598
25 thickening of the lateral border of the scapula 59 32 hallmark (90%) Very frequent (99-80%) HP:0006650
26 iliac horns 59 32 hallmark (90%) Very frequent (99-80%) HP:0009780
27 pectus excavatum 32 HP:0000767
28 joint dislocation 59 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 59 Very frequent (99-80%)
40 abnormality of the upper limb 59 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 59 Frequent (79-30%)
45 abnormality of the toenails 59 Very frequent (99-80%)
46 aplastic/hypoplastic toenail 59 Very frequent (99-80%)
47 lumbar hyperlordosis 32 HP:0002938
48 microphakia 32 HP:0012376
49 limited elbow extension 32 HP:0001377
50 patellar aplasia 32 frequent (33%) HP:0006443

UMLS symptoms related to Nail-Patella Syndrome:


arthralgia, metatarsalgia, koilonychia

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

46
# 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 LMX1B NPHS2 PAX2 PDLIM5 ASS1 CD2AP
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 29 LMX1B

Anatomical Context for Nail-Patella Syndrome

MalaCards organs/tissues related to Nail-Patella Syndrome:

41
Bone, Kidney, Eye, Testes, Skin, Heart, Lymph Node

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 242)
# Title Authors Year
1
Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy. ( 29515307 )
2018
2
Nail-patella syndrome: clinical clues for making the diagnosis. ( 29554154 )
2018
3
Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. ( 29664512 )
2018
4
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
5
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. ( 28335748 )
2017
6
A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. ( 29290531 )
2017
7
Prenatal diagnosis of nail patella syndrome: A case report. ( 29089684 )
2017
8
AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy. ( 28941488 )
2017
9
Nail-patella syndrome. ( 28681095 )
2017
10
Radiological characteristics of the knee joint in nail patella syndrome. ( 27037430 )
2016
11
Management of patellar problems in skeletally mature patients with nail-patella syndrome. ( 26872454 )
2016
12
Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. ( 27247258 )
2016
13
Nail-patella syndrome: report of 11 pediatric cases. ( 27109743 )
2016
14
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
15
Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. ( 27284321 )
2016
16
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. ( 27450397 )
2016
17
Median nail damage in nail-patella syndrome associated with triangular lunulae. ( 26042812 )
2015
18
Radiographic findings in the nail-patella syndrome. ( 26130880 )
2015
19
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. ( 25898926 )
2015
20
Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. ( 26596417 )
2015
21
Spontaneous coronary artery dissection in a parturient with Nail-Patella syndrome. ( 25433575 )
2015
22
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. ( 26025008 )
2015
23
Nail-patella syndrome. ( 25763426 )
2015
24
Arthropathy and proteinuria: nail-patella syndrome revisited. ( 25408626 )
2014
25
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome. ( 24720768 )
2014
26
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. ( 25380522 )
2014
27
Intercondylar synovial septum in two patients with nail-patella syndrome. ( 23288746 )
2013
28
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). ( 24267390 )
2013
29
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. ( 24029584 )
2013
30
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. ( 23897191 )
2013
31
Nail-patella syndrome-a novel mutation in the LMX1B gene. ( 26064490 )
2013
32
A case of ectopic cilia in nail-patella syndrome. ( 22441588 )
2012
33
A case of nail-patella syndrome associated with thyrotoxicosis. ( 22574102 )
2012
34
A hypoplastic patella fracture in nail patella syndrome: a case report. ( 22800460 )
2012
35
Nail patella syndrome: a rare cause of renal failure in a young adult. ( 22145064 )
2011
36
Nail-patella syndrome. ( 21952482 )
2011
37
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. ( 21850167 )
2011
38
The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree. ( 21920246 )
2011
39
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
40
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. ( 20531206 )
2010
41
Nail-patella syndrome associated with short stature: a case series. ( 20811572 )
2010
42
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome. ( 20880310 )
2010
43
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. ( 20199424 )
2010
44
Nail-patella syndrome (Fong disease). ( 20143059 )
2010
45
Renal involvement in nail-patella syndrome: report of three cases. ( 19296234 )
2010
46
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. ( 21510571 )
2010
47
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. ( 19222527 )
2009
48
Clinico-genetic study of nail-patella syndrome. ( 19194568 )
2009
49
Nail patella syndrome. ( 19907953 )
2009
50
Kidney disease in nail-patella syndrome. ( 18535845 )
2009

Variations for Nail-Patella Syndrome

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

75 (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 296)
# 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.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 GRCh38 Chromosome 9, 126693589: 126693589
3 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh37 Chromosome 9, 129455522: 129455522
4 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh38 Chromosome 9, 126693243: 126693243
5 LMX1B LMX1B, 1-BP INS, 713A insertion Pathogenic
6 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh37 Chromosome 9, 129453141: 129453141
7 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh38 Chromosome 9, 126690862: 126690862
8 LMX1B LMX1B, 2-BP DEL, 233TG deletion Pathogenic
9 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh37 Chromosome 9, 129377766: 129377766
10 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh38 Chromosome 9, 126615487: 126615487
11 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh37 Chromosome 9, 129455552: 129455552
12 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh38 Chromosome 9, 126693273: 126693273
13 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh37 Chromosome 9, 129455529: 129455529
14 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh38 Chromosome 9, 126693250: 126693250
15 LMX1B LMX1B, 672, G-A, +1 single nucleotide variant Pathogenic
16 LMX1B LMX1B, 672, G-T, +1 single nucleotide variant Pathogenic
17 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh37 Chromosome 9, 129455806: 129455806
18 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh38 Chromosome 9, 126693527: 126693527
19 LMX1B LMX1B, 17-BP DEL deletion Pathogenic
20 LMX1B LMX1B, DEL deletion Pathogenic
21 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh38 Chromosome 9, 126615549: 126615549
22 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh37 Chromosome 9, 129377828: 129377828
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 Likely benign rs112171815 GRCh37 Chromosome 9, 129458161: 129458161
30 LMX1B NM_002316.3(LMX1B): c.930G> A (p.Thr310=) single nucleotide variant 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.742-7G> C single nucleotide variant Uncertain significance rs534963836 GRCh38 Chromosome 9, 126693517: 126693517
38 LMX1B NM_002316.3(LMX1B): c.628G> A (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh38 Chromosome 9, 126693210: 126693210
39 LMX1B NM_002316.3(LMX1B): c.628G> A (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh37 Chromosome 9, 129455489: 129455489
40 LMX1B NM_002316.3(LMX1B): c.628G> C (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh38 Chromosome 9, 126693210: 126693210
41 LMX1B NM_002316.3(LMX1B): c.628G> C (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh37 Chromosome 9, 129455489: 129455489
42 LMX1B NM_002316.3(LMX1B): c.741+14G> A single nucleotide variant Uncertain significance rs527313096 GRCh38 Chromosome 9, 126693337: 126693337
43 LMX1B NM_002316.3(LMX1B): c.741+14G> A single nucleotide variant Uncertain significance rs527313096 GRCh37 Chromosome 9, 129455616: 129455616
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 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:

# 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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