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 57 12 75 24 53 25 59 74 37 29 13 55 6 44 15 40 72
Turner-Kieser Syndrome 57 75 53 25 59
Fong Disease 57 12 24 53 25
Onychoosteodysplasia 57 53 59 74
Hereditary Osteo-Onychodysplasia 24 25
Nps 57 74
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:



External Ids:

Disease Ontology 12 DOID:9467
OMIM 57 161200
KEGG 37 H00464
MeSH 44 D009261
NCIt 50 C75120
SNOMED-CT 68 22199006
ICD10 33 Q87.2
MESH via Orphanet 45 D009261
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C0027341
Orphanet 59 ORPHA2614
MedGen 42 C0027341
UMLS 72 C0027341

Summaries for Nail-Patella Syndrome

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. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.

MalaCards based summary : Nail-Patella Syndrome, also known as turner-kieser syndrome, is related to lipoid nephrosis 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 kidney, bone and eye, and related phenotypes are skeletal dysplasia and joint stiffness

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 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.

KEGG : 37
Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia.

UniProtKB/Swiss-Prot : 74 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Wikipedia : 75 Nail-patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps,... more...

More information 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 394)
# Related Disease Score Top Affiliating Genes
1 lipoid nephrosis 30.1 NPHS2 CD2AP
2 renal dysplasia 30.0 PAX2 LMX1B
3 membranous nephropathy 29.7 NPHS2 CD2AP
4 kidney disease 29.0 PAX2 NPHS2 LMX1B COL4A4 CD2AP
5 focal segmental glomerulosclerosis 28.9 PAX2 NPHS2 COL4A4 CD2AP
6 nail-patella-like renal disease 11.8
7 pterygium, antecubital 11.7
8 anxiety 11.7
9 niemann-pick disease 11.7
10 niemann-pick disease, type c1 11.5
11 salcedo syndrome 11.5
12 buschke-ollendorff syndrome 11.4
13 disease of mental health 11.4
14 holoprosencephaly 3 11.2
15 kleine-levin hibernation syndrome 11.2
16 perry syndrome 11.2
17 reflex sympathetic dystrophy 11.2
18 spinocerebellar ataxia 23 11.2
19 retinitis pigmentosa 68 11.2
20 autonomic peripheral neuropathy 11.2
21 dissociative amnesia 11.2
22 autonomic nervous system disease 11.2
23 pylorospasm 11.2
24 diverticulitis of colon 11.2
25 epicondylitis 11.2
26 alcohol-induced mental disorder 11.2
27 alcoholic psychosis 11.2
28 neurodermatitis 11.2
29 persian gulf syndrome 11.2
30 intramuscular hemangioma 11.2
31 vasomotor rhinitis 11.2
32 dental pulp disease 11.2
33 sleep disorder 11.2
34 amphetamine abuse 11.2
35 cloacogenic carcinoma 11.2
36 duodenal somatostatinoma 11.2
37 recurrent hypersomnia 11.2
38 epidermolytic hyperkeratosis 11.2
39 pruritus, hereditary localized 11.2
40 marfanoid-progeroid-lipodystrophy syndrome 11.2
41 necrotizing ulcerative gingivitis 11.2
42 notalgia paresthetica 11.2
43 migraine with or without aura 1 11.1
44 nail disorder, nonsyndromic congenital, 9 10.7
45 nephrotic syndrome 10.7
46 open-angle glaucoma 10.6
47 intraocular pressure quantitative trait locus 10.5
48 avian influenza 10.5
49 influenza 10.5
50 end stage renal failure 10.4

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:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
2 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
4 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
5 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
6 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
7 patellar dislocation 59 32 very rare (1%) Very frequent (99-80%) HP:0002999
8 ridged nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001807
9 aplasia/hypoplasia of the patella 59 32 hallmark (90%) Very frequent (99-80%) HP:0006498
10 concave nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001598
11 thickening of the lateral border of the scapula 59 32 hallmark (90%) Very frequent (99-80%) HP:0006650
12 iliac horns 59 32 very rare (1%) Very frequent (99-80%) HP:0009780
13 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
14 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
15 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
16 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
17 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
18 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
19 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
20 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
21 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
22 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
23 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
24 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
25 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
26 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
27 pes planus 32 very rare (1%) HP:0001763
28 back pain 32 very rare (1%) HP:0003418
29 talipes equinovarus 32 very rare (1%) HP:0001762
30 lumbar hyperlordosis 32 very rare (1%) HP:0002938
31 limited elbow extension 32 very rare (1%) HP:0001377
32 patellar aplasia 32 very rare (1%) HP:0006443
33 absent distal interphalangeal creases 32 very rare (1%) HP:0001032
34 patellar hypoplasia 32 very rare (1%) HP:0003065
35 antecubital pterygium 32 very rare (1%) HP:0009760
36 pectus excavatum 32 HP:0000767
37 joint dislocation 59 Frequent (79-30%)
38 ptosis 32 HP:0000508
39 scoliosis 32 HP:0002650
40 sensorineural hearing impairment 32 HP:0000407
41 short stature 32 HP:0004322
42 cleft palate 32 HP:0000175
43 abnormality of the fingernails 59 Very frequent (99-80%)
44 clinodactyly of the 5th finger 32 HP:0004209
45 cleft upper lip 32 HP:0000204
46 anonychia 32 HP:0001798
47 spina bifida 32 HP:0002414
48 abnormality of the elbow 59 Very frequent (99-80%)
49 abnormality of the upper limb 59 Frequent (79-30%)
50 microcornea 32 HP:0000482

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

Skeletal Feet:
talipes equinovarus

Neurologic Central Nervous System:
spina bifida

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

Skeletal Hands:
fifth finger clinodactyly

Skeletal Pelvis:
iliac horns arising from external iliac fossa

Skeletal Spine:
scoliosis
spina bifida

Laboratory Abnormalities:
proteinuria
hematuria

Genitourinary Kidneys:
nephrotic syndrome
glomerulonephritis
renal failure

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

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

Head And Neck Ears:
sensorineural hearing loss

Clinical features from OMIM:

161200

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 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 Clinical and Molecular Manifestations 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
Kidney, Bone, Eye, Skin, Testes, Heart, Lymph Node

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 409)
# Title Authors PMID Year
1
Mutation analysis of LMX1B gene in nail-patella syndrome patients. 9 38 4 8 71
9837817 1998
2
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. 38 4 8 71
18414507 2008
3
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 38 4 8 71
9590287 1998
4
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. 9 38 8 71
9618165 1998
5
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. 9 38 4 8
15928687 2005
6
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. 38 4 8
15562281 2005
7
Nail patella syndrome: a review of the phenotype aided by developmental biology. 38 4 8
12624132 2003
8
Ultrasound prenatal diagnosis of the Nail-Patella syndrome. 38 4 8
9742578 1998
9
Cosegregation of open-angle glaucoma and the nail-patella syndrome. 38 4 8
9323941 1997
10
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? 9 38 8
8462976 1993
11
Nail patella syndrome revisited: 50 years after linkage. 38 8
15996164 2005
12
Skeletal integrity in patients with nail patella syndrome. 38 8
15623820 2005
13
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. 38 8
15638822 2005
14
Nail-Patella Syndrome 38 71
20301311 2003
15
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. 38 71
10854116 2000
16
LMX1B transactivation and expression in nail-patella syndrome. 9 38 4
10767331 2000
17
Prenatal diagnosis of nail-patella syndrome. 38 8
10210133 1999
18
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. 9 38 4
10571942 1999
19
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. 38 8
9590288 1998
20
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier. 38 8
9781017 1998
21
Fine mapping of the nail-patella syndrome locus at 9q34. 38 8
8981956 1997
22
Linkage analysis of the nail-patella syndrome. 38 8
7825584 1995
23
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. 38 8
8403448 1993
24
Nail-patella syndrome in a spontaneously aborted 18-week fetus: ultrastructural and immunofluorescent study of the kidneys. 38 8
1621759 1992
25
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. 38 8
2012138 1991
26
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. 38 8
3225824 1988
27
Renal histopathology of the nail-patella syndrome in a two-year-old boy. 38 8
3365866 1988
28
Nephropathy of nail-patella syndrome. 38 8
3284122 1988
29
Cystic adventitial degeneration of the popliteal artery. Its occurrence in a patient with the nail-patella syndrome. 38 8
6687538 1983
30
Nail-patella syndrome. 38 8
7418282 1980
31
Triangular lunulae. A clue to nail-patella syndrome. 38 8
7369778 1980
32
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. 38 8
961703 1976
33
Assignment of the AK1:Np:ABO linkage group to human chromosome 9. 38 8
176661 1976
34
Familial colon carcinoma in nail-patella syndrome. 38 8
1147145 1975
35
The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred. 38 8
4569963 1973
36
Nail-Patella syndrome. Light and electron microscopic studies of the kidney. 38 8
4682988 1973
37
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. 38 8
5423458 1970
38
Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection. 38 8
6019383 1967
39
The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome. 38 8
5945537 1966
40
ONYCHO-OSTEODYSPLASI (NAIL-PATELLA SYNDROME) STUDY OF A CHINESE FAMILY WITH THIS CONDITION. 38 8
14304642 1965
41
[On hereditary arthro-osteo-onychodysplasia (Turner-Kieser syndrome)]. 38 8
14457321 1961
42
Nail-patella syndrome: evidence for modification by alleles at the main locus. 38 8
13373182 1956
43
LMX1B mutations cause hereditary FSGS without extrarenal involvement. 38 4
23687361 2013
44
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. 38 4
20531206 2010
45
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. 38 4
15498463 2004
46
Nail-patella syndrome. Overview on clinical and molecular findings. 38 4
12215822 2002
47
Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. 38 4
10836702 2000
48
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. 38 4
10094193 1999
49
Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter? 8
2541064 1989
50
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. 8
184030 1976

Variations for Nail-Patella Syndrome

ClinVar genetic disease variations for Nail-Patella Syndrome:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LMX1B NM_002316.3(LMX1B): c.543del (p.Asp182fs) deletion Pathogenic rs1114167362 9:129453331-129453331 9:126691052-126691052
2 LMX1B NM_002316.3(LMX1B): c.176G> T (p.Cys59Phe) single nucleotide variant Pathogenic rs1554721879 9:129377698-129377698 9:126615419-126615419
3 LMX1B NM_002316.3(LMX1B): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic rs1554728698 9:129455597-129455597 9:126693318-126693318
4 LMX1B NM_002316.3(LMX1B): c.741+1G> T single nucleotide variant Pathogenic rs1427331961 9:129455603-129455603 9:126693324-126693324
5 LMX1B NM_002316.3(LMX1B): c.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 9:129455868-129455868 9:126693589-126693589
6 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 9:129455522-129455522 9:126693243-126693243
7 LMX1B LMX1B, 1-BP INS, 713A insertion Pathogenic
8 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 9:129453141-129453141 9:126690862-126690862
9 LMX1B LMX1B, 2-BP DEL, 233TG deletion Pathogenic
10 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 9:129377766-129377766 9:126615487-126615487
11 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 9:129455552-129455552 9:126693273-126693273
12 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 9:129455529-129455529 9:126693250-126693250
13 LMX1B LMX1B, 672, G-A, +1 single nucleotide variant Pathogenic
14 LMX1B LMX1B, 672, G-T, +1 single nucleotide variant Pathogenic
15 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 9:129455806-129455806 9:126693527-126693527
16 LMX1B LMX1B, 17-BP DEL deletion Pathogenic
17 LMX1B LMX1B, DEL deletion Pathogenic
18 LMX1B NM_002316.3(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 9:129377828-129377828 9:126615549-126615549
19 LMX1B NM_002316.3(LMX1B): c.781C> T (p.Arg261Cys) single nucleotide variant Pathogenic rs886039576 9:129455842-129455842 9:126693563-126693563
20 LMX1B NM_002316.3(LMX1B): c.305A> G (p.Tyr102Cys) single nucleotide variant Pathogenic 9:129377827-129377827 9:126615548-126615548
21 LMX1B NM_002316.3(LMX1B): c.667del (p.Arg223fs) deletion Pathogenic 9:129455528-129455528 9:126693249-126693249
22 LMX1B NM_002316.3(LMX1B): c.192dup (p.Asp65fs) duplication Likely pathogenic rs1057516196 9:129377714-129377714 9:126615435-126615435
23 LMX1B NM_002316.3(LMX1B): c.139+5G> C single nucleotide variant Uncertain significance rs1114167421 9:129376872-129376872 9:126614593-126614593
24 LMX1B NM_002316.3(LMX1B): c.628G> A (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 9:129455489-129455489 9:126693210-126693210
25 LMX1B NM_002316.3(LMX1B): c.628G> C (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 9:129455489-129455489 9:126693210-126693210
26 LMX1B NM_002316.3(LMX1B): c.741+14G> A single nucleotide variant Uncertain significance rs527313096 9:129455616-129455616 9:126693337-126693337
27 LMX1B NM_002316.3(LMX1B): c.742-7G> C single nucleotide variant Uncertain significance rs534963836 9:129455796-129455796 9:126693517-126693517
28 LMX1B NM_002316.3(LMX1B): c.1131C> T (p.Arg377=) single nucleotide variant Uncertain significance rs146476348 9:129458673-129458673 9:126696394-126696394
29 LMX1B NM_002316.3(LMX1B): c.459C> T (p.Gly153=) single nucleotide variant Uncertain significance rs779330478 9:129453247-129453247 9:126690968-126690968
30 LMX1B NM_002316.3(LMX1B): c.*232C> T single nucleotide variant Uncertain significance rs551852198 9:129458962-129458962 9:126696683-126696683
31 LMX1B NM_002316.3(LMX1B): c.*574C> T single nucleotide variant Uncertain significance rs765510482 9:129459304-129459304 9:126697025-126697025
32 LMX1B NM_002316.3(LMX1B): c.*1115T> A single nucleotide variant Uncertain significance rs886063425 9:129459845-129459845 9:126697566-126697566
33 LMX1B NM_002316.3(LMX1B): c.*1266T> G single nucleotide variant Uncertain significance rs558658509 9:129459996-129459996 9:126697717-126697717
34 LMX1B NM_002316.3(LMX1B): c.*1387_*1391TGTTT[8] short repeat Uncertain significance rs59836255 9:129460157-129460171 9:126697878-126697892
35 LMX1B NM_002316.3(LMX1B): c.*1387_*1391TGTTT[10] short repeat Uncertain significance rs59836255 9:129460167-129460171 9:126697888-126697892
36 LMX1B NM_002316.3(LMX1B): c.*1387_*1391TGTTT[12] short repeat Uncertain significance rs59836255 9:129460167-129460171 9:126697888-126697892
37 LMX1B NM_002316.3(LMX1B): c.*1676G> A single nucleotide variant Uncertain significance rs886063431 9:129460406-129460406 9:126698127-126698127
38 LMX1B NM_002316.3(LMX1B): c.*1713C> T single nucleotide variant Uncertain significance rs886063432 9:129460443-129460443 9:126698164-126698164
39 LMX1B NM_002316.3(LMX1B): c.*4206G> A single nucleotide variant Uncertain significance rs762728003 9:129462936-129462936 9:126700657-126700657
40 LMX1B NM_002316.3(LMX1B): c.*1737T> C single nucleotide variant Uncertain significance rs886063433 9:129460467-129460467 9:126698188-126698188
41 LMX1B NM_002316.3(LMX1B): c.*1935G> A single nucleotide variant Uncertain significance rs886063435 9:129460665-129460665 9:126698386-126698386
42 LMX1B NM_002316.3(LMX1B): c.*3021T> G single nucleotide variant Uncertain significance rs886063438 9:129461751-129461751 9:126699472-126699472
43 LMX1B NM_002316.3(LMX1B): c.*3346G> T single nucleotide variant Uncertain significance rs7023938 9:129462076-129462076 9:126699797-126699797
44 LMX1B NM_002316.3(LMX1B): c.*3379C> T single nucleotide variant Uncertain significance rs886063439 9:129462109-129462109 9:126699830-126699830
45 LMX1B NM_002316.3(LMX1B): c.*1511G> A single nucleotide variant Uncertain significance rs547510293 9:129460241-129460241 9:126697962-126697962
46 LMX1B NM_002316.3(LMX1B): c.*3765A> C single nucleotide variant Uncertain significance rs886063444 9:129462495-129462495 9:126700216-126700216
47 LMX1B NM_002316.3(LMX1B): c.*1389_*1398delinsGTTTT indel Uncertain significance rs886063427 9:129460119-129460128 9:126697840-126697849
48 LMX1B NM_002316.3(LMX1B): c.*2612T> C single nucleotide variant Uncertain significance rs886063437 9:129461342-129461342 9:126699063-126699063
49 LMX1B NM_002316.3(LMX1B): c.57G> A (p.Thr19=) single nucleotide variant Uncertain significance rs376265443 9:129376785-129376785 9:126614506-126614506
50 LMX1B NM_002316.3(LMX1B): c.972G> C (p.Gln324His) single nucleotide variant Uncertain significance rs886063418 9:129458203-129458203 9:126695924-126695924

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

74 (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

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 PAX2 NPHS2 LMX1B COL4A4 CD2AP
2 10.37 NPHS2 CD2AP

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 COL5A1 COL4A4
2 collagen trimer GO:0005581 8.62 COL5A1 COL4A4

Sources for Nail-Patella Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....