NPS
MCID: NLP001
MIFTS: 63

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 74 25 20 43 58 73 36 29 13 54 6 44 15 39 71
Turner-Kieser Syndrome 57 74 20 43 58
Onychoosteodysplasia 57 20 58 73
Fong Disease 57 12 20 43
Nps 57 73
Hereditary Onycho-Osteodysplasia 43
Hereditary Osteo-Onychodysplasia 43
Hereditary Onychoostedysplasia 12
Arthro-Onychodysplasia 20
Nail Patella Syndrome 12
Turner-Kiser Syndrome 12
Osteo-Onychodysplasia 20
Osterreicher Syndrome 43
Pelvic Horn Syndrome 43
Iliac Horn Syndrome 12
Nps 1 20
Nps1 57

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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
nail-patella syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Nail-Patella Syndrome

MedlinePlus Genetics : 43 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 nephrotic syndrome 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. The drugs Ketamine and Amitriptyline have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone, and related phenotypes are skeletal dysplasia and joint stiffness

Disease Ontology : 12 A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has material basis in heterozygous mutation in LMX1B on chromosome 9q33.3.

GARD : 20 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.

OMIM® : 57 Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by developmental defects of dorsal limb structures, the kidney, and the eye, manifested by nail dysplasia, patellar abnormalities, elbow dysplasia, iliac horns, nephropathy, and glaucoma, respectively (summary by Bongers et al., 2005). (161200) (Updated 05-Mar-2021)

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...

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 297)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome 30.9 PLCE1 NPHS2 NPHS1 CD2AP ACTN4
2 glomerular disease 30.7 CD2AP ACTN4
3 glomerulonephritis 30.6 NPHS2 NPHS1 COL4A4 COL4A3
4 membranous nephropathy 30.5 NPHS2 NPHS1 CD2AP
5 proteinuria, chronic benign 30.5 NPHS2 NPHS1 INF2 COL4A4 COL4A3 CD2AP
6 ehlers-danlos syndrome, classic type, 2 30.5 COL5A2 COL5A1
7 genetic nephrotic syndrome 30.5 NPHS2 NPHS1
8 iga glomerulonephritis 30.4 NPHS2 NPHS1 MEFV CD2AP
9 hematuria, benign familial 30.3 NPHS2 COL4A4 COL4A3
10 goodpasture syndrome 30.2 NPHS1 COL4A4 COL4A3
11 chronic kidney disease 30.2 NPHS2 NPHS1 COL4A4 COL4A3 ACTN4
12 kidney disease 30.0 PAX2 NPHS2 NPHS1 MEFV LMX1B INF2
13 end stage renal disease 29.9 PAX2 NPHS2 NPHS1 INF2 COL4A4 COL4A3
14 nephrotic syndrome, type 2 29.8 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
15 focal segmental glomerulosclerosis 29.5 PLCE1 PAX2 NPHS2 NPHS1 LMX1B INF2
16 alport syndrome 29.3 PLCE1 NPHS2 NPHS1 LMX1B INF2 COL4A4
17 focal segmental glomerulosclerosis 10 11.2
18 salcedo syndrome 11.2
19 anxiety 11.2
20 pterygium, antecubital 11.1
21 disease of mental health 10.9
22 epidermolytic hyperkeratosis 10.9
23 phobia, specific 10.9
24 marfanoid-progeroid-lipodystrophy syndrome 10.9
25 nail disorder, nonsyndromic congenital, 9 10.6
26 open-angle glaucoma 10.5
27 intraocular pressure quantitative trait locus 10.5
28 ocular hypertension 10.4
29 stxbp1 encephalopathy 10.4 LMX1B GARNL3
30 focal segmental glomerulosclerosis 7 10.3 PAX2 INF2
31 alport syndrome 3, autosomal dominant 10.3 COL4A4 COL4A3
32 hypermobile ehlers-danlos syndrome 10.3 COL5A2 COL5A1
33 anti-basement membrane glomerulonephritis 10.3 COL4A4 COL4A3
34 preterm premature rupture of the membranes 10.3 COL5A2 COL5A1 COL4A3
35 irregular astigmatism 10.3 COL4A4 COL4A3
36 autosomal dominant alport syndrome 10.3 NPHS2 COL4A4 COL4A3
37 classic ehlers-danlos syndrome 10.2 COL5A2 COL5A1
38 kidney hypertrophy 10.2 NPHS2 NPHS1
39 corneal dystrophy, posterior polymorphous, 3 10.2 COL4A4 COL4A3
40 nephrotic syndrome, type 10 10.2 NPHS2 NPHS1
41 stickler syndrome 10.2 COL5A2 COL5A1 COL4A4
42 congenital syphilis 10.2 PLCE1 NPHS2 NPHS1
43 acute proliferative glomerulonephritis 10.2 NPHS2 NPHS1 COL4A3
44 pre-eclampsia 10.2
45 congenital amyoplasia 10.2
46 hypermobility syndrome 10.2 COL5A2 COL5A1
47 fuchs' endothelial dystrophy 10.2 COL5A1 COL4A4 COL4A3
48 focal segmental glomerulosclerosis 6 10.2 INF2 CD2AP ACTN4
49 focal segmental glomerulosclerosis 5 10.2 INF2 CD2AP ACTN4
50 autosomal recessive alport syndrome 10.2 NPHS2 LMX1B COL4A4 COL4A3

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 65)
# 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 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
4 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
5 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
6 patellar dislocation 58 31 very rare (1%) Very frequent (99-80%) HP:0002999
7 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
8 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
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 ridged nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001807
12 thickening of the lateral border of the scapula 58 31 hallmark (90%) Very frequent (99-80%) HP:0006650
13 iliac horns 58 31 very rare (1%) Very frequent (99-80%) HP:0009780
14 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
15 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
16 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
17 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
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 patellar aplasia 31 very rare (1%) HP:0006443
31 patellar hypoplasia 31 very rare (1%) HP:0003065
32 antecubital pterygium 31 very rare (1%) HP:0009760
33 limited elbow extension 31 very rare (1%) HP:0001377
34 lumbar hyperlordosis 31 very rare (1%) HP:0002938
35 absent distal interphalangeal creases 31 very rare (1%) HP:0001032
36 scoliosis 31 HP:0002650
37 ptosis 31 HP:0000508
38 sensorineural hearing impairment 31 HP:0000407
39 short stature 31 HP:0004322
40 cleft palate 31 HP:0000175
41 pectus excavatum 31 HP:0000767
42 clinodactyly of the 5th finger 31 HP:0004209
43 cleft upper lip 31 HP:0000204
44 joint dislocation 58 Frequent (79-30%)
45 spina bifida 31 HP:0002414
46 abnormality of the elbow 58 Very frequent (99-80%)
47 microcornea 31 HP:0000482
48 abnormality of the upper limb 58 Frequent (79-30%)
49 keratoconus 31 HP:0000563
50 abnormality of the lower limb 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
spina bifida

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Kidneys:
nephrotic syndrome
glomerulonephritis
renal failure

Neurologic Central Nervous System:
spina bifida

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

Skeletal Feet:
talipes equinovarus

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%)

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

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

Head And Neck Ears:
sensorineural hearing loss

Clinical features from OMIM®:

161200 (Updated 05-Mar-2021)

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 9.44 LDB1
2 Decreased viability GR00107-A-1 9.44 AK1
3 Decreased viability GR00240-S-1 9.44 MEFV
4 Decreased viability GR00249-S 9.44 MEFV NPHS2
5 Decreased viability GR00381-A-1 9.44 INF2 MEFV
6 Decreased viability GR00386-A-1 9.44 INF2 LMX1B
7 Decreased viability GR00402-S-2 9.44 ACTN4 CD2AP INF2 LDB1

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 ACTN4 AK1 CD2AP COL4A3 COL5A1 COL5A2
2 growth/size/body region MP:0005378 10.03 ACTN4 ASS1 CD2AP COL4A3 COL4A4 COL5A1
3 homeostasis/metabolism MP:0005376 9.97 ACTN4 AK1 ASS1 CD2AP COL4A3 COL4A4
4 mortality/aging MP:0010768 9.86 ACTN4 ASS1 CD2AP COL4A3 COL4A4 COL5A1
5 renal/urinary system MP:0005367 9.28 ACTN4 CD2AP COL4A3 COL4A4 LDB1 LMX1B

Drugs & Therapeutics for Nail-Patella Syndrome

Drugs for Nail-Patella Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
2
Amitriptyline Approved Phase 2 50-48-6 2160
3
Perphenazine Approved Phase 2 58-39-9 4748
4
Gabapentin Approved, Investigational Phase 2 60142-96-3 3446
5 Anesthetics Phase 2
6 Neurotransmitter Agents Phase 2
7 Antidepressive Agents Phase 2
8 Anesthetics, Dissociative Phase 2
9 Psychotropic Drugs Phase 2
10 Excitatory Amino Acid Antagonists Phase 2
11 Analgesics Phase 2
12 Amitriptyline, perphenazine drug combination Phase 2
13 Antipsychotic Agents Phase 2
14 Analgesics, Non-Narcotic Phase 2
15 Adrenergic Agents Phase 2
16 Antidepressive Agents, Tricyclic Phase 2
17 Anesthetics, General Phase 2
18 Anesthetics, Intravenous Phase 2
19 Anticonvulsants Phase 2
20 Anti-Anxiety Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Double-Blind, Randomized, Placebo-Controlled Study of the Efficacy and Safety of EpiCept™ NP-1 Topical Cream in Patients With Pain From Diabetic Peripheral Neuropathy (DPN) Completed NCT00476151 Phase 2 EpiCept NP-1 (4% Amitriptyline/ 2% Ketamine) Topical Cream;placebo cream
2 A Phase II, Double-Blind, Randomized, Placebo-Controlled Non-inferiority Trial of EpiCept™ NP-1 Topical Cream (2% Ketamine / 4% Amitriptyline) vs. Oral Gabapentin in Postherpetic Neuralgia (PHN) Completed NCT00475904 Phase 2 EpiCept-NP-1 Cream;Gabapentin Capsules;placebo
3 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
Eye, Kidney, Bone, Lymph Node, Heart, Colon, Skin

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 427)
# Title Authors PMID Year
1
Mutation analysis of LMX1B gene in nail-patella syndrome patients. 54 61 25 57 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 25 57 6
18414507 2008
3
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 6 25 57 61
9590287 1998
4
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. 54 61 57 6
9618165 1998
5
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. 57 25 54 61
15928687 2005
6
Skeletal integrity in patients with nail patella syndrome. 25 57 61
15623820 2005
7
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. 25 57 61
15562281 2005
8
Nail patella syndrome: a review of the phenotype aided by developmental biology. 57 61 25
12624132 2003
9
Ultrasound prenatal diagnosis of the Nail-Patella syndrome. 57 25 61
9742578 1998
10
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier. 25 61 57
9781017 1998
11
Cosegregation of open-angle glaucoma and the nail-patella syndrome. 61 57 25
9323941 1997
12
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? 54 61 57
8462976 1993
13
Iliac horns (symmetrical bilateral central posterior iliac processes). 25 57
20274622 1946
14
Kidney disease in nail-patella syndrome. 54 25 61
18535845 2009
15
Nail patella syndrome revisited: 50 years after linkage. 57 61
15996164 2005
16
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. 57 61
15638822 2005
17
LMX1B transactivation and expression in nail-patella syndrome. 25 54 61
10767331 2000
18
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. 6 61
10854116 2000
19
Prenatal diagnosis of nail-patella syndrome. 57 61
10210133 1999
20
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. 54 61 25
10571942 1999
21
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. 57 61
9590288 1998
22
Fine mapping of the nail-patella syndrome locus at 9q34. 57 61
8981956 1997
23
Linkage analysis of the nail-patella syndrome. 61 57
7825584 1995
24
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. 57 61
8403448 1993
25
Nail-patella syndrome in a spontaneously aborted 18-week fetus: ultrastructural and immunofluorescent study of the kidneys. 57 61
1621759 1992
26
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. 61 57
2012138 1991
27
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. 61 57
3225824 1988
28
Renal histopathology of the nail-patella syndrome in a two-year-old boy. 57 61
3365866 1988
29
Nephropathy of nail-patella syndrome. 61 57
3284122 1988
30
Cystic adventitial degeneration of the popliteal artery. Its occurrence in a patient with the nail-patella syndrome. 57 61
6687538 1983
31
Nail-patella syndrome. 61 57
7418282 1980
32
Triangular lunulae. A clue to nail-patella syndrome. 57 61
7369778 1980
33
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. 57 61
961703 1976
34
Assignment of the AK1:Np:ABO linkage group to human chromosome 9. 61 57
176661 1976
35
Familial colon carcinoma in nail-patella syndrome. 57 61
1147145 1975
36
The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred. 57 61
4569963 1973
37
Nail-Patella syndrome. Light and electron microscopic studies of the kidney. 61 57
4682988 1973
38
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. 57 61
5423458 1970
39
Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection. 61 57
6019383 1967
40
The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome. 57 61
5945537 1966
41
ONYCHO-OSTEODYSPLASI (NAIL-PATELLA SYNDROME) STUDY OF A CHINESE FAMILY WITH THIS CONDITION. 61 57
14304642 1965
42
[On hereditary arthro-osteo-onychodysplasia (Turner-Kieser syndrome)]. 61 57
14457321 1961
43
Nail-patella syndrome: evidence for modification by alleles at the main locus. 61 57
13373182 1956
44
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. 61 25
32457516 2020
45
Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing. 61 25
32639239 2020
46
Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome. 61 25
31746280 2020
47
Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection. 61 25
29650765 2018
48
Nail-patella syndrome: clinical clues for making the diagnosis. 25 61
29554154 2018
49
Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy. 61 25
29515307 2018
50
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. 61 25
28335748 2017

Variations for Nail-Patella Syndrome

ClinVar genetic disease variations for Nail-Patella Syndrome:

6 (show top 50) (show all 239)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMX1B NM_002316.3(LMX1B):c.807C>A (p.Asn269Lys) SNV Pathogenic 7000 rs121909486 9:129455868-129455868 9:126693589-126693589
2 LMX1B NM_002316.3(LMX1B):c.661C>T (p.Arg221Ter) SNV Pathogenic 7001 rs121909487 9:129455522-129455522 9:126693243-126693243
3 LMX1B LMX1B, 1-BP INS, 713A Insertion Pathogenic 7002
4 LMX1B NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe) SNV Pathogenic 7003 rs121909488 9:129453141-129453141 9:126690862-126690862
5 LMX1B LMX1B, 2-BP DEL, 233TG Deletion Pathogenic 7004
6 LMX1B NM_002316.3(LMX1B):c.244C>T (p.Gln82Ter) SNV Pathogenic 7005 rs121909489 9:129377766-129377766 9:126615487-126615487
7 LMX1B NM_002316.3(LMX1B):c.691C>T (p.Arg231Ter) SNV Pathogenic 7006 rs121909490 9:129455552-129455552 9:126693273-126693273
8 LMX1B NM_002316.3(LMX1B):c.668G>A (p.Arg223Gln) SNV Pathogenic 7007 rs121909491 9:129455529-129455529 9:126693250-126693250
9 LMX1B LMX1B, 672, G-A, +1 SNV Pathogenic 7008
10 LMX1B LMX1B, 672, G-T, +1 SNV Pathogenic 7009
11 LMX1B NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter) SNV Pathogenic 7010 rs121909492 9:129455806-129455806 9:126693527-126693527
12 LMX1B LMX1B, 17-BP DEL Deletion Pathogenic 7011
13 LMX1B LMX1B, DEL Deletion Pathogenic 7012
14 LMX1B NM_001174146.1(LMX1B):c.306C>G (p.Tyr102Ter) SNV Pathogenic 208164 rs864621969 9:129377828-129377828 9:126615549-126615549
15 LMX1B NM_002316.3(LMX1B):c.543del (p.Asp182fs) Deletion Pathogenic 427737 rs1114167362 9:129453328-129453328 9:126691049-126691049
16 LMX1B NM_002316.3(LMX1B):c.176G>T (p.Cys59Phe) SNV Pathogenic 438683 rs1554721879 9:129377698-129377698 9:126615419-126615419
17 LMX1B NM_002316.3(LMX1B):c.741+1G>T SNV Pathogenic 522461 rs1427331961 9:129455603-129455603 9:126693324-126693324
18 LMX1B NM_001174146.1(LMX1B):c.305A>G (p.Tyr102Cys) SNV Pathogenic 587694 rs1564143881 9:129377827-129377827 9:126615548-126615548
19 LMX1B NM_002316.3(LMX1B):c.667del (p.Arg223fs) Deletion Pathogenic 599397 rs1564169730 9:129455525-129455525 9:126693246-126693246
20 LMX1B NM_002316.3(LMX1B):c.781C>T (p.Arg261Cys) SNV Pathogenic 265491 rs886039576 9:129455842-129455842 9:126693563-126693563
21 LMX1B NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro) SNV Pathogenic 694525 rs1588307152 9:129455570-129455570 9:126693291-126693291
22 LMX1B NM_001174147.2(LMX1B):c.917_926del (p.Met306fs) Deletion Pathogenic 807624 rs1588309269 9:129458147-129458156 9:126695868-126695877
23 LMX1B NM_001174147.2(LMX1B):c.932del (p.Pro311fs) Deletion Pathogenic 807625 rs1588309293 9:129458162-129458162 9:126695883-126695883
24 LMX1B NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) SNV Pathogenic 827646 rs1588257904 9:129377691-129377691 9:126615412-126615412
25 LMX1B NM_001174147.2(LMX1B):c.783dup (p.Val262fs) Duplication Pathogenic 827647 rs1588307460 9:129455843-129455844 9:126693564-126693565
26 LMX1B NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu) SNV Pathogenic 827648 rs1588307477 9:129455854-129455854 9:126693575-126693575
27 LMX1B NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe) SNV Pathogenic 827649 rs1588307477 9:129455854-129455854 9:126693575-126693575
28 LMX1B NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del) Deletion Pathogenic 827650 rs1588307486 9:129455866-129455871 9:126693587-126693592
29 LMX1B NM_001174147.2(LMX1B):c.819+1G>A SNV Pathogenic 827651 rs1588307501 9:129455881-129455881 9:126693602-126693602
30 LMX1B NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro) SNV Pathogenic 830002 rs1056252582 9:129455807-129455807 9:126693528-126693528
31 LMX1B NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) SNV Pathogenic 976712 9:129455567-129455567 9:126693288-126693288
32 GARNL3 GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Pathogenic 983307 9:128512347-130702572
33 LMX1B NM_001174146.2(LMX1B):c.737G>A SNV Pathogenic 498798 rs1191455921 9:129455598-129455598 9:126693319-126693319
34 LMX1B NM_002316.3(LMX1B):c.736C>T (p.Arg246Ter) SNV Pathogenic 488835 rs1554728698 9:129455597-129455597 9:126693318-126693318
35 LMX1B NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr) SNV Likely pathogenic 995576 9:129453141-129453141 9:126690862-126690862
36 LMX1B NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) SNV Likely pathogenic 976153 9:129455858-129455858 9:126693579-126693579
37 LMX1B NM_001174147.2(LMX1B):c.924del (p.Tyr309fs) Deletion Likely pathogenic 695116 rs1588309277 9:129458154-129458154 9:126695875-126695875
38 LMX1B NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg) SNV Likely pathogenic 807623 rs1588307482 9:129455857-129455857 9:126693578-126693578
39 LMX1B NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly) SNV Likely pathogenic 666319 rs121909492 9:129455806-129455806 9:126693527-126693527
40 LMX1B NM_002316.3(LMX1B):c.192dup (p.Asp65fs) Duplication Likely pathogenic 369955 rs1057516196 9:129377712-129377713 9:126615433-126615434
41 LMX1B NM_002316.3(LMX1B):c.139+5G>C SNV Uncertain significance 427734 rs1114167421 9:129376872-129376872 9:126614593-126614593
42 LMX1B NM_002316.3(LMX1B):c.742-6A>T SNV Uncertain significance 364886 rs554576629 9:129455797-129455797 9:126693518-126693518
43 LMX1B NM_002316.3(LMX1B):c.*1737T>C SNV Uncertain significance 364944 rs886063433 9:129460467-129460467 9:126698188-126698188
44 LMX1B NM_002316.3(LMX1B):c.*4206G>A SNV Uncertain significance 364993 rs762728003 9:129462936-129462936 9:126700657-126700657
45 LMX1B NM_002316.3(LMX1B):c.*1511G>A SNV Uncertain significance 364930 rs547510293 9:129460241-129460241 9:126697962-126697962
46 LMX1B NM_002316.3(LMX1B):c.*2023C>T SNV Uncertain significance 364950 rs574903734 9:129460753-129460753 9:126698474-126698474
47 LMX1B NM_002316.3(LMX1B):c.1031-5C>A SNV Uncertain significance 364888 rs886063419 9:129458568-129458568 9:126696289-126696289
48 LMX1B NM_002316.3(LMX1B):c.1130G>A (p.Arg377His) SNV Uncertain significance 635445 rs143906016 9:129458672-129458672 9:126696393-126696393
49 LMX1B NM_002316.3(LMX1B):c.*1115T>A SNV Uncertain significance 364918 rs886063425 9:129459845-129459845 9:126697566-126697566
50 LMX1B NM_002316.3(LMX1B):c.*4570A>G SNV Uncertain significance 365001 rs886063449 9:129463300-129463300 9:126701021-126701021

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 protein-containing complex GO:0032991 9.88 PAX2 NPHS2 LDB1 CD2AP ACTN4
2 collagen-containing extracellular matrix GO:0062023 9.76 COL5A2 COL5A1 COL4A4 COL4A3
3 endoplasmic reticulum lumen GO:0005788 9.73 COL5A2 COL5A1 COL4A4 COL4A3
4 extracellular matrix GO:0031012 9.71 COL5A2 COL5A1 COL4A4 COL4A3
5 basement membrane GO:0005604 9.54 COL5A1 COL4A4 COL4A3
6 slit diaphragm GO:0036057 9.32 NPHS2 NPHS1
7 collagen type IV trimer GO:0005587 9.26 COL4A4 COL4A3
8 collagen type V trimer GO:0005588 9.16 COL5A2 COL5A1
9 ASTRA complex GO:0070209 8.96 TTI2 TELO2
10 collagen trimer GO:0005581 8.92 COL5A2 COL5A1 COL4A4 COL4A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.56 COL5A2 COL5A1 COL4A4 COL4A3
2 eye morphogenesis GO:0048592 9.16 COL5A2 COL5A1
3 negative regulation of endodermal cell differentiation GO:1903225 8.96 COL5A2 COL5A1
4 glomerular basement membrane development GO:0032836 8.8 NPHS1 COL4A4 COL4A3

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.33 COL5A1 COL4A3 ACTN4
2 extracellular matrix structural constituent GO:0005201 9.26 COL5A2 COL5A1 COL4A4 COL4A3
3 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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