NPS
MCID: NLP001
MIFTS: 60

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 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Turner-Kieser Syndrome 56 74 52 25 58
Fong Disease 56 12 24 52 25
Onychoosteodysplasia 56 52 58 73
Hereditary Osteo-Onychodysplasia 24 25
Nps 56 73
Hereditary Onycho-Osteodysplasia 25
Hereditary Onychoostedysplasia 12
Arthro-Onychodysplasia 52
Nail Patella Syndrome 12
Turner-Kiser Syndrome 12
Osteo-Onychodysplasia 52
Osterreicher Syndrome 25
Pelvic Horn Syndrome 25
Iliac Horn Syndrome 12
Nps 1 52
Nps1 56

Characteristics:

Orphanet epidemiological data:

58
nail-patella syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
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:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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 ehlers-danlos syndrome, classic type, 2 and glomerular disease, 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 Focal Adhesion and Amoebiasis. Affiliated tissues include kidney, bone and eye, and related phenotypes are skeletal dysplasia and joint stiffness

NIH Rare Diseases : 52 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 : 36 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 : 73 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Wikipedia : 74 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 440)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 30.7 COL5A2 COL5A1
2 glomerular disease 30.6 NPHS2 NPHS1 CD2AP
3 ehlers-danlos syndrome, classic type, 1 30.4 COL5A2 COL5A1
4 glomerulonephritis 30.3 NPHS2 NPHS1 COL4A4 COL4A3
5 hematuria, benign familial 30.3 COL4A4 COL4A3
6 genetic nephrotic syndrome 30.1 WT1 NPHS2
7 goodpasture syndrome 30.1 NPHS1 COL4A4 COL4A3
8 end stage renal failure 29.7 WT1 PLCE1 NPHS2 NPHS1
9 leiomyomatosis 29.6 WT1 COL4A4 COL4A3
10 crescentic glomerulonephritis 29.5 WT1 NPHS2 ACTN4
11 nephrotic syndrome, type 2 29.1 PLCE1 NPHS2 NPHS1 INF2 ACTN4
12 membranous nephropathy 29.1 WT1 TRPC6 NPHS2 NPHS1 CD2AP
13 nephrotic syndrome 28.7 WT1 TRPC6 PLCE1 NPHS2 NPHS1 CD2AP
14 lipoid nephrosis 27.9 WT1 TRPC6 NPHS2 NPHS1 INF2 CD2AP
15 kidney disease 27.8 WT1 TRPC6 PAX2 NPHS2 NPHS1 LMX1B
16 focal segmental glomerulosclerosis 26.3 WT1 TRPC6 PLCE1 PAX2 NPHS2 NPHS1
17 nail-patella-like renal disease 11.9
18 pterygium, antecubital 11.7
19 niemann-pick disease 11.7
20 anxiety 11.6
21 niemann-pick disease, type c1 11.5
22 sleep apnea 11.5
23 hypertension, essential 11.5
24 buschke-ollendorff syndrome 11.4
25 dermatitis, atopic 11.4
26 body mass index quantitative trait locus 11 11.4
27 pain agnosia 11.4
28 disease of mental health 11.3
29 epidermolytic hyperkeratosis 11.2
30 pruritus, hereditary localized 11.2
31 marfanoid-progeroid-lipodystrophy syndrome 11.2
32 necrotizing ulcerative gingivitis 11.2
33 notalgia paresthetica 11.2
34 diabetes mellitus, noninsulin-dependent 11.0
35 migraine with or without aura 1 11.0
36 trigeminal neuralgia 11.0
37 retinitis pigmentosa 11.0
38 paine syndrome 11.0
39 reflex sympathetic dystrophy 11.0
40 spinocerebellar ataxia 23 11.0
41 leptin deficiency or dysfunction 11.0
42 retinitis pigmentosa 68 11.0
43 carbamazepine allergy 11.0
44 specific developmental disorder 11.0
45 pervasive developmental disorder 11.0
46 autonomic nervous system disease 11.0
47 pthirus pubis infestation 11.0
48 epicondylitis 11.0
49 causalgia 11.0
50 agnosia 11.0

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



Diseases related to Nail-Patella Syndrome

Symptoms & Phenotypes for Nail-Patella Syndrome

Human phenotypes related to Nail-Patella Syndrome:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
4 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
5 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
6 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
7 patellar dislocation 58 31 very rare (1%) Very frequent (99-80%) HP:0002999
8 ridged nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001807
9 aplasia/hypoplasia of the patella 58 31 hallmark (90%) Very frequent (99-80%) HP:0006498
10 concave nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001598
11 thickening of the lateral border of the scapula 58 31 hallmark (90%) Very frequent (99-80%) HP:0006650
12 iliac horns 58 31 very rare (1%) Very frequent (99-80%) HP:0009780
13 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
14 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
15 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
16 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
17 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
18 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
19 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
20 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
21 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
22 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
23 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
24 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
25 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
26 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
27 pes planus 31 very rare (1%) HP:0001763
28 back pain 31 very rare (1%) HP:0003418
29 talipes equinovarus 31 very rare (1%) HP:0001762
30 lumbar hyperlordosis 31 very rare (1%) HP:0002938
31 limited elbow extension 31 very rare (1%) HP:0001377
32 patellar aplasia 31 very rare (1%) HP:0006443
33 absent distal interphalangeal creases 31 very rare (1%) HP:0001032
34 patellar hypoplasia 31 very rare (1%) HP:0003065
35 antecubital pterygium 31 very rare (1%) HP:0009760
36 pectus excavatum 31 HP:0000767
37 joint dislocation 58 Frequent (79-30%)
38 scoliosis 31 HP:0002650
39 ptosis 31 HP:0000508
40 short stature 31 HP:0004322
41 sensorineural hearing impairment 31 HP:0000407
42 cleft palate 31 HP:0000175
43 abnormality of the fingernails 58 Very frequent (99-80%)
44 clinodactyly of the 5th finger 31 HP:0004209
45 cleft upper lip 31 HP:0000204
46 anonychia 31 HP:0001798
47 spina bifida 31 HP:0002414
48 abnormality of the elbow 58 Very frequent (99-80%)
49 abnormality of the upper limb 58 Frequent (79-30%)
50 microcornea 31 HP:0000482

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
spina bifida

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

Head And Neck Eyes:
ptosis
cataract
glaucoma
microcornea
keratoconus
more
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.07 LDB1
2 Decreased viability GR00107-A-1 10.07 AK1
3 Decreased viability GR00240-S-1 10.07 MEFV
4 Decreased viability GR00381-A-1 10.07 INF2 MEFV WT1
5 Decreased viability GR00402-S-2 10.07 ACTN4 AK1 ASS1 CD2AP COL4A3 COL4A4
6 no effect GR00402-S-1 9.62 ACTN4 AK1 ASS1 CD2AP COL4A3 COL4A4

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ACTN4 AK1 CD2AP COL4A3 COL5A1 COL5A2
2 mortality/aging MP:0010768 10.2 ACTN4 ASS1 CD2AP COL4A3 COL4A4 COL5A1
3 growth/size/body region MP:0005378 10.18 ACTN4 ASS1 CD2AP COL4A3 COL4A4 COL5A1
4 homeostasis/metabolism MP:0005376 10.18 ACTN4 AK1 ASS1 CD2AP COL4A3 COL4A4
5 normal MP:0002873 9.81 ASS1 COL5A1 COL5A2 LDB1 LDB2 LMX1B
6 muscle MP:0005369 9.8 ACTN4 AK1 LMX1B PDLIM5 PLCE1 TRPC6
7 renal/urinary system MP:0005367 9.65 ACTN4 CD2AP COL4A3 COL4A4 LDB1 LMX1B
8 vision/eye MP:0005391 9.28 ACTN4 ASS1 COL4A3 COL4A4 COL5A1 COL5A2

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:

40
Kidney, Bone, Eye, Skin, Testes, Brain, Lung

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 414)
# Title Authors PMID Year
1
Mutation analysis of LMX1B gene in nail-patella syndrome patients. 54 61 24 56 6
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. 61 24 56 6
18414507 2008
3
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 61 24 56 6
9590287 1998
4
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. 54 61 56 6
9618165 1998
5
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. 54 61 24 56
15928687 2005
6
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. 61 24 56
15562281 2005
7
Nail patella syndrome: a review of the phenotype aided by developmental biology. 61 24 56
12624132 2003
8
Ultrasound prenatal diagnosis of the Nail-Patella syndrome. 61 24 56
9742578 1998
9
Cosegregation of open-angle glaucoma and the nail-patella syndrome. 61 24 56
9323941 1997
10
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? 54 61 56
8462976 1993
11
Nail patella syndrome revisited: 50 years after linkage. 61 56
15996164 2005
12
Skeletal integrity in patients with nail patella syndrome. 61 56
15623820 2005
13
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. 61 56
15638822 2005
14
Nail-Patella Syndrome 61 6
20301311 2003
15
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. 61 6
10854116 2000
16
LMX1B transactivation and expression in nail-patella syndrome. 54 61 24
10767331 2000
17
Prenatal diagnosis of nail-patella syndrome. 61 56
10210133 1999
18
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. 54 61 24
10571942 1999
19
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. 61 56
9590288 1998
20
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier. 61 56
9781017 1998
21
Fine mapping of the nail-patella syndrome locus at 9q34. 61 56
8981956 1997
22
Linkage analysis of the nail-patella syndrome. 61 56
7825584 1995
23
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. 61 56
8403448 1993
24
Nail-patella syndrome in a spontaneously aborted 18-week fetus: ultrastructural and immunofluorescent study of the kidneys. 61 56
1621759 1992
25
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. 61 56
2012138 1991
26
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. 61 56
3225824 1988
27
Renal histopathology of the nail-patella syndrome in a two-year-old boy. 61 56
3365866 1988
28
Nephropathy of nail-patella syndrome. 61 56
3284122 1988
29
Cystic adventitial degeneration of the popliteal artery. Its occurrence in a patient with the nail-patella syndrome. 61 56
6687538 1983
30
Nail-patella syndrome. 61 56
7418282 1980
31
Triangular lunulae. A clue to nail-patella syndrome. 61 56
7369778 1980
32
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. 61 56
961703 1976
33
Assignment of the AK1:Np:ABO linkage group to human chromosome 9. 61 56
176661 1976
34
Familial colon carcinoma in nail-patella syndrome. 61 56
1147145 1975
35
The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred. 61 56
4569963 1973
36
Nail-Patella syndrome. Light and electron microscopic studies of the kidney. 61 56
4682988 1973
37
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. 61 56
5423458 1970
38
Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection. 61 56
6019383 1967
39
The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome. 61 56
5945537 1966
40
ONYCHO-OSTEODYSPLASI (NAIL-PATELLA SYNDROME) STUDY OF A CHINESE FAMILY WITH THIS CONDITION. 61 56
14304642 1965
41
[On hereditary arthro-osteo-onychodysplasia (Turner-Kieser syndrome)]. 61 56
14457321 1961
42
Nail-patella syndrome: evidence for modification by alleles at the main locus. 61 56
13373182 1956
43
LMX1B mutations cause hereditary FSGS without extrarenal involvement. 61 24
23687361 2013
44
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. 61 24
20531206 2010
45
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. 61 24
15498463 2004
46
Nail-patella syndrome. Overview on clinical and molecular findings. 61 24
12215822 2002
47
Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. 61 24
10836702 2000
48
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. 61 24
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? 56
2541064 1989
50
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. 56
184030 1976

Variations for Nail-Patella Syndrome

ClinVar genetic disease variations for Nail-Patella Syndrome:

6 (show top 50) (show all 162) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMX1B NM_001174146.1(LMX1B):c.306C>G (p.Tyr102Ter)SNV Pathogenic 208164 rs864621969 9:129377828-129377828 9:126615549-126615549
2 LMX1B NM_002316.3(LMX1B):c.807C>A (p.Asn269Lys)SNV Pathogenic 7000 rs121909486 9:129455868-129455868 9:126693589-126693589
3 LMX1B NM_002316.3(LMX1B):c.661C>T (p.Arg221Ter)SNV Pathogenic 7001 rs121909487 9:129455522-129455522 9:126693243-126693243
4 LMX1B LMX1B, 1-BP INS, 713Ainsertion Pathogenic 7002
5 LMX1B NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe)SNV Pathogenic 7003 rs121909488 9:129453141-129453141 9:126690862-126690862
6 LMX1B LMX1B, 2-BP DEL, 233TGdeletion Pathogenic 7004
7 LMX1B NM_002316.3(LMX1B):c.244C>T (p.Gln82Ter)SNV Pathogenic 7005 rs121909489 9:129377766-129377766 9:126615487-126615487
8 LMX1B NM_002316.3(LMX1B):c.691C>T (p.Arg231Ter)SNV Pathogenic 7006 rs121909490 9:129455552-129455552 9:126693273-126693273
9 LMX1B NM_002316.3(LMX1B):c.668G>A (p.Arg223Gln)SNV Pathogenic 7007 rs121909491 9:129455529-129455529 9:126693250-126693250
10 LMX1B LMX1B, 672, G-A, +1SNV Pathogenic 7008
11 LMX1B LMX1B, 672, G-T, +1SNV Pathogenic 7009
12 LMX1B NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter)SNV Pathogenic 7010 rs121909492 9:129455806-129455806 9:126693527-126693527
13 LMX1B LMX1B, 17-BP DELdeletion Pathogenic 7011
14 LMX1B LMX1B, DELdeletion Pathogenic 7012
15 LMX1B NM_002316.3(LMX1B):c.781C>T (p.Arg261Cys)SNV Pathogenic 265491 rs886039576 9:129455842-129455842 9:126693563-126693563
16 LMX1B NM_002316.3(LMX1B):c.543del (p.Asp182fs)deletion Pathogenic 427737 rs1114167362 9:129453328-129453328 9:126691049-126691049
17 LMX1B NM_002316.3(LMX1B):c.176G>T (p.Cys59Phe)SNV Pathogenic 438683 rs1554721879 9:129377698-129377698 9:126615419-126615419
18 LMX1B NM_002316.3(LMX1B):c.736C>T (p.Arg246Ter)SNV Pathogenic 488835 rs1554728698 9:129455597-129455597 9:126693318-126693318
19 LMX1B NM_002316.3(LMX1B):c.741+1G>TSNV Pathogenic 522461 rs1427331961 9:129455603-129455603 9:126693324-126693324
20 LMX1B NM_001174146.1(LMX1B):c.305A>G (p.Tyr102Cys)SNV Pathogenic 587694 rs1564143881 9:129377827-129377827 9:126615548-126615548
21 LMX1B NM_002316.3(LMX1B):c.667del (p.Arg223fs)deletion Pathogenic 599397 rs1564169730 9:129455525-129455525 9:126693246-126693246
22 LMX1B NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro)SNV Pathogenic 694525 9:129455570-129455570 9:126693291-126693291
23 LMX1B NM_001174147.2(LMX1B):c.917_926del (p.Met306fs)deletion Pathogenic 807624 9:129458147-129458156 9:126695868-126695877
24 LMX1B NM_001174147.2(LMX1B):c.932del (p.Pro311fs)deletion Pathogenic 807625 9:129458162-129458162 9:126695883-126695883
25 LMX1B NM_001174147.2(LMX1B):c.924del (p.Tyr309fs)deletion Likely pathogenic 695116 9:129458154-129458154 9:126695875-126695875
26 LMX1B NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg)SNV Likely pathogenic 807623 9:129455857-129455857 9:126693578-126693578
27 LMX1B NM_002316.3(LMX1B):c.192dup (p.Asp65fs)duplication Likely pathogenic 369955 rs1057516196 9:129377712-129377713 9:126615433-126615434
28 LMX1B NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly)SNV Likely pathogenic 666319 9:129455806-129455806 9:126693527-126693527
29 LMX1B NM_002316.3(LMX1B):c.1131C>T (p.Arg377=)SNV Conflicting interpretations of pathogenicity 364889 rs146476348 9:129458673-129458673 9:126696394-126696394
30 LMX1B NM_002316.3(LMX1B):c.*232C>TSNV Uncertain significance 364899 rs551852198 9:129458962-129458962 9:126696683-126696683
31 LMX1B NM_002316.3(LMX1B):c.*574C>TSNV Uncertain significance 364908 rs765510482 9:129459304-129459304 9:126697025-126697025
32 LMX1B NM_002316.3(LMX1B):c.*1115T>ASNV Uncertain significance 364918 rs886063425 9:129459845-129459845 9:126697566-126697566
33 LMX1B NM_002316.3(LMX1B):c.*1266T>GSNV Uncertain significance 364920 rs558658509 9:129459996-129459996 9:126697717-126697717
34 LMX1B NM_002316.3(LMX1B):c.459C>T (p.Gly153=)SNV Uncertain significance 364878 rs779330478 9:129453247-129453247 9:126690968-126690968
35 LMX1B NM_002316.3(LMX1B):c.628G>A (p.Gly210Arg)SNV Uncertain significance 364880 rs754095270 9:129455489-129455489 9:126693210-126693210
36 LMX1B NM_002316.3(LMX1B):c.628G>C (p.Gly210Arg)SNV Uncertain significance 364881 rs754095270 9:129455489-129455489 9:126693210-126693210
37 LMX1B NM_002316.3(LMX1B):c.741+14G>ASNV Uncertain significance 364883 rs527313096 9:129455616-129455616 9:126693337-126693337
38 LMX1B NM_002316.3(LMX1B):c.742-7G>CSNV Uncertain significance 364885 rs534963836 9:129455796-129455796 9:126693517-126693517
39 LMX1B NM_001174146.1(LMX1B):c.*1387_*1391TGTTT[8]short repeat Uncertain significance 364924 rs59836255 9:129460117-129460131 9:126697838-126697852
40 LMX1B NM_001174146.1(LMX1B):c.*1387_*1391TGTTT[10]short repeat Uncertain significance 364923 rs59836255 9:129460117-129460121 9:126697838-126697842
41 LMX1B NM_001174146.1(LMX1B):c.*1387_*1391TGTTT[12]short repeat Uncertain significance 364922 rs59836255 9:129460116-129460117 9:126697837-126697838
42 LMX1B NM_002316.3(LMX1B):c.*1676G>ASNV Uncertain significance 364941 rs886063431 9:129460406-129460406 9:126698127-126698127
43 LMX1B NM_002316.3(LMX1B):c.*1713C>TSNV Uncertain significance 364942 rs886063432 9:129460443-129460443 9:126698164-126698164
44 LMX1B NM_002316.3(LMX1B):c.*1737T>CSNV Uncertain significance 364944 rs886063433 9:129460467-129460467 9:126698188-126698188
45 LMX1B NM_002316.3(LMX1B):c.*1935G>ASNV Uncertain significance 364946 rs886063435 9:129460665-129460665 9:126698386-126698386
46 LMX1B NM_002316.3(LMX1B):c.*3021T>GSNV Uncertain significance 364962 rs886063438 9:129461751-129461751 9:126699472-126699472
47 LMX1B NM_002316.3(LMX1B):c.*3379C>TSNV Uncertain significance 364970 rs886063439 9:129462109-129462109 9:126699830-126699830
48 LMX1B NM_002316.3(LMX1B):c.*3346G>TSNV Uncertain significance 364969 rs7023938 9:129462076-129462076 9:126699797-126699797
49 LMX1B NM_002316.3(LMX1B):c.*1511G>ASNV Uncertain significance 364930 rs547510293 9:129460241-129460241 9:126697962-126697962
50 LMX1B NM_002316.3(LMX1B):c.*3765A>CSNV Uncertain significance 364978 rs886063444 9:129462495-129462495 9:126700216-126700216

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

73 (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

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 endoplasmic reticulum lumen GO:0005788 9.73 COL5A2 COL5A1 COL4A4 COL4A3
2 extracellular matrix GO:0031012 9.67 COL5A2 COL5A1 COL4A4 COL4A3
3 basement membrane GO:0005604 9.58 COL5A1 COL4A4 COL4A3
4 cell leading edge GO:0031252 9.43 LDB2 LDB1 CD2AP
5 collagen type IV trimer GO:0005587 9.32 COL4A4 COL4A3
6 collagen trimer GO:0005581 9.26 COL5A2 COL5A1 COL4A4 COL4A3
7 collagen type V trimer GO:0005588 9.16 COL5A2 COL5A1
8 slit diaphragm GO:0036057 8.8 TRPC6 NPHS2 NPHS1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.8 COL5A2 COL5A1 COL4A4 COL4A3
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.51 COL4A4 COL4A3
3 epithelial structure maintenance GO:0010669 9.48 LDB2 LDB1
4 diaphragm development GO:0060539 9.46 WT1 ASS1
5 mesenchymal to epithelial transition GO:0060231 9.43 WT1 PAX2
6 glomerulus development GO:0032835 9.4 WT1 PLCE1
7 metanephric mesenchyme development GO:0072075 9.37 WT1 PAX2
8 regulation of kinase activity GO:0043549 9.32 LDB2 LDB1
9 metanephric epithelium development GO:0072207 9.26 WT1 PAX2
10 eye morphogenesis GO:0048592 9.16 COL5A2 COL5A1
11 negative regulation of endodermal cell differentiation GO:1903225 8.96 COL5A2 COL5A1
12 glomerular basement membrane development GO:0032836 8.92 WT1 NPHS1 COL4A4 COL4A3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 WT1 TRPC6 PLCE1 PDLIM5 PAX2 NPHS2
2 integrin binding GO:0005178 9.58 COL5A1 COL4A3 ACTN4
3 actin binding GO:0003779 9.55 TRPC6 PDLIM5 MEFV INF2 ACTN4
4 actinin binding GO:0042805 9.32 TRPC6 PDLIM5
5 LIM domain binding GO:0030274 9.26 LDB2 LDB1
6 extracellular matrix structural constituent GO:0005201 9.26 COL5A2 COL5A1 COL4A4 COL4A3
7 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL5A2 COL5A1 COL4A4 COL4A3

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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