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

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.

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 446)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 30.7 COL5A2 COL5A1
2 glomerular disease 30.5 NPHS2 NPHS1 CD2AP
3 membranous nephropathy 30.4 NPHS2 NPHS1 CD2AP
4 ehlers-danlos syndrome, classic type, 1 30.4 COL5A2 COL5A1
5 alport syndrome 30.3 NPHS2 COL4A4 COL4A3
6 hematuria, benign familial 30.2 NPHS2 COL4A4 COL4A3
7 nephrotic syndrome 30.2 PLCE1 NPHS2 NPHS1 CD2AP ACTN4
8 glomerulonephritis 30.2 NPHS2 NPHS1 COL4A4 COL4A3
9 goodpasture syndrome 30.0 NPHS1 COL4A4 COL4A3
10 kidney disease 29.2 PAX2 NPHS2 NPHS1 LMX1B COL4A4 COL4A3
11 nephrotic syndrome, type 2 29.1 PLCE1 NPHS2 NPHS1 INF2 ACTN4
12 chronic kidney disease 29.0 NPHS2 NPHS1 INF2 COL4A4 COL4A3 ACTN4
13 end stage renal disease 28.8 PAX2 NPHS2 NPHS1 INF2 COL4A4 COL4A3
14 focal segmental glomerulosclerosis 27.8 PLCE1 PAX2 NPHS2 NPHS1 LMX1B INF2
15 nail-patella-like renal disease 12.0
16 niemann-pick disease 11.7
17 anxiety 11.6
18 niemann-pick disease, type c1 11.5
19 sleep apnea 11.5
20 hypertension, essential 11.5
21 buschke-ollendorff syndrome 11.4
22 pterygium, antecubital 11.4
23 dermatitis, atopic 11.4
24 body mass index quantitative trait locus 11 11.3
25 pain agnosia 11.3
26 disease of mental health 11.3
27 epidermolytic hyperkeratosis 11.2
28 pruritus, hereditary localized 11.2
29 marfanoid-progeroid-lipodystrophy syndrome 11.2
30 necrotizing ulcerative gingivitis 11.2
31 notalgia paresthetica 11.2
32 leptin deficiency or dysfunction 11.2
33 diabetes mellitus, noninsulin-dependent 11.0
34 acrofacial dysostosis 1, nager type 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 kagami-ogata syndrome 11.0
41 carbamazepine allergy 11.0
42 specific developmental disorder 11.0
43 pervasive developmental disorder 11.0
44 jejunoileitis 11.0
45 migraine with aura 11.0
46 autonomic nervous system disease 11.0
47 low compliance bladder 11.0
48 pthirus pubis infestation 11.0
49 algoneurodystrophy 11.0
50 epicondylitis 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 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 patellar dislocation 58 31 very rare (1%) Very frequent (99-80%) HP:0002999
6 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
7 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
8 aplasia/hypoplasia of the patella 58 31 hallmark (90%) Very frequent (99-80%) HP:0006498
9 concave nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001598
10 ridged nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001807
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 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 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
19 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
20 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
21 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
22 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
23 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
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 sensorineural hearing impairment 31 HP:0000407
38 short stature 31 HP:0004322
39 cleft palate 31 HP:0000175
40 joint dislocation 58 Frequent (79-30%)
41 ptosis 31 HP:0000508
42 pectus excavatum 31 HP:0000767
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 spina bifida 31 HP:0002414
47 abnormality of the elbow 58 Very frequent (99-80%)
48 microcornea 31 HP:0000482
49 abnormality of the upper limb 58 Frequent (79-30%)
50 keratoconus 31 HP:0000563

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
ptosis
glaucoma
microcornea
keratoconus
more
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

Skeletal Spine:
scoliosis
spina bifida

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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 ACTN4 AK1 CD2AP COL4A3 COL5A1 COL5A2
2 mortality/aging MP:0010768 10.16 ACTN4 ASS1 CD2AP COL4A3 COL4A4 COL5A1
3 growth/size/body region MP:0005378 10.15 ACTN4 ASS1 CD2AP COL4A3 COL4A4 COL5A1
4 homeostasis/metabolism MP:0005376 10.13 ACTN4 AK1 ASS1 CD2AP COL4A3 COL4A4
5 normal MP:0002873 9.81 ASS1 COL5A1 COL5A2 FOXC1 LDB1 LDB2
6 renal/urinary system MP:0005367 9.65 ACTN4 CD2AP COL4A3 COL4A4 FOXC1 LDB1
7 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, Lymph Node, Heart

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 416)
# Title Authors PMID Year
1
Mutation analysis of LMX1B gene in nail-patella syndrome patients. 6 56 24 61 54
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. 56 24 6 61
18414507 2008
3
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 61 24 6 56
9590287 1998
4
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. 54 56 6 61
9618165 1998
5
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. 61 56 54 24
15928687 2005
6
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. 56 24 61
15562281 2005
7
Nail patella syndrome: a review of the phenotype aided by developmental biology. 24 56 61
12624132 2003
8
Ultrasound prenatal diagnosis of the Nail-Patella syndrome. 24 56 61
9742578 1998
9
Cosegregation of open-angle glaucoma and the nail-patella syndrome. 56 61 24
9323941 1997
10
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? 61 54 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. 56 61
15623820 2005
13
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. 56 61
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. 6 61
10854116 2000
16
LMX1B transactivation and expression in nail-patella syndrome. 24 54 61
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. 24 61 54
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. 56 61
8981956 1997
22
Linkage analysis of the nail-patella syndrome. 56 61
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. 56 61
1621759 1992
25
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. 56 61
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. 56 61
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. 56 61
7418282 1980
31
Triangular lunulae. A clue to nail-patella syndrome. 56 61
7369778 1980
32
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. 56 61
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. 56 61
1147145 1975
35
The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred. 56 61
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. 56 61
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. 56 61
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. 56 61
13373182 1956
43
LMX1B mutations cause hereditary FSGS without extrarenal involvement. 24 61
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. 24 61
15498463 2004
46
Nail-patella syndrome. Overview on clinical and molecular findings. 24 61
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. 24 61
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 229) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMX1B NM_002316.3(LMX1B):c.543del (p.Asp182fs)deletion Pathogenic 427737 rs1114167362 9:129453328-129453328 9:126691049-126691049
2 LMX1B NM_002316.3(LMX1B):c.176G>T (p.Cys59Phe)SNV Pathogenic 438683 rs1554721879 9:129377698-129377698 9:126615419-126615419
3 LMX1B NM_002316.3(LMX1B):c.736C>T (p.Arg246Ter)SNV Pathogenic 488835 rs1554728698 9:129455597-129455597 9:126693318-126693318
4 LMX1B NM_002316.3(LMX1B):c.741+1G>TSNV Pathogenic 522461 rs1427331961 9:129455603-129455603 9:126693324-126693324
5 LMX1B NM_001174146.1(LMX1B):c.305A>G (p.Tyr102Cys)SNV Pathogenic 587694 rs1564143881 9:129377827-129377827 9:126615548-126615548
6 LMX1B NM_002316.3(LMX1B):c.667del (p.Arg223fs)deletion Pathogenic 599397 rs1564169730 9:129455525-129455525 9:126693246-126693246
7 LMX1B NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro)SNV Pathogenic 694525 9:129455570-129455570 9:126693291-126693291
8 LMX1B NM_001174147.2(LMX1B):c.917_926del (p.Met306fs)deletion Pathogenic 807624 9:129458147-129458156 9:126695868-126695877
9 LMX1B NM_001174147.2(LMX1B):c.932del (p.Pro311fs)deletion Pathogenic 807625 9:129458162-129458162 9:126695883-126695883
10 LMX1B NM_001174147.2(LMX1B):c.783dup (p.Val262fs)duplication Pathogenic 827647 9:129455843-129455844 9:126693564-126693565
11 LMX1B NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)SNV Pathogenic 827646 9:129377691-129377691 9:126615412-126615412
12 LMX1B NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu)SNV Pathogenic 827648 9:129455854-129455854 9:126693575-126693575
13 LMX1B NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe)SNV Pathogenic 827649 9:129455854-129455854 9:126693575-126693575
14 LMX1B NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del)deletion Pathogenic 827650 9:129455866-129455871 9:126693587-126693592
15 LMX1B NM_001174147.2(LMX1B):c.819+1G>ASNV Pathogenic 827651 9:129455881-129455881 9:126693602-126693602
16 LMX1B NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro)SNV Pathogenic 830002 9:129455807-129455807 9:126693528-126693528
17 LMX1B LMX1B, 1-BP INS, 713Ainsertion Pathogenic 7002
18 LMX1B NM_002316.3(LMX1B):c.807C>A (p.Asn269Lys)SNV Pathogenic 7000 rs121909486 9:129455868-129455868 9:126693589-126693589
19 LMX1B NM_002316.3(LMX1B):c.661C>T (p.Arg221Ter)SNV Pathogenic 7001 rs121909487 9:129455522-129455522 9:126693243-126693243
20 LMX1B NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe)SNV Pathogenic 7003 rs121909488 9:129453141-129453141 9:126690862-126690862
21 LMX1B LMX1B, 2-BP DEL, 233TGdeletion Pathogenic 7004
22 LMX1B NM_002316.3(LMX1B):c.244C>T (p.Gln82Ter)SNV Pathogenic 7005 rs121909489 9:129377766-129377766 9:126615487-126615487
23 LMX1B NM_002316.3(LMX1B):c.691C>T (p.Arg231Ter)SNV Pathogenic 7006 rs121909490 9:129455552-129455552 9:126693273-126693273
24 LMX1B NM_002316.3(LMX1B):c.668G>A (p.Arg223Gln)SNV Pathogenic 7007 rs121909491 9:129455529-129455529 9:126693250-126693250
25 LMX1B LMX1B, 672, G-A, +1SNV Pathogenic 7008
26 LMX1B LMX1B, 672, G-T, +1SNV Pathogenic 7009
27 LMX1B NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter)SNV Pathogenic 7010 rs121909492 9:129455806-129455806 9:126693527-126693527
28 LMX1B LMX1B, 17-BP DELdeletion Pathogenic 7011
29 LMX1B LMX1B, DELdeletion Pathogenic 7012
30 LMX1B NM_001174146.1(LMX1B):c.306C>G (p.Tyr102Ter)SNV Pathogenic 208164 rs864621969 9:129377828-129377828 9:126615549-126615549
31 LMX1B NM_002316.3(LMX1B):c.781C>T (p.Arg261Cys)SNV Pathogenic 265491 rs886039576 9:129455842-129455842 9:126693563-126693563
32 LMX1B NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg)SNV Likely pathogenic 807623 9:129455857-129455857 9:126693578-126693578
33 LMX1B NM_001174147.2(LMX1B):c.924del (p.Tyr309fs)deletion Likely pathogenic 695116 9:129458154-129458154 9:126695875-126695875
34 LMX1B NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly)SNV Likely pathogenic 666319 9:129455806-129455806 9:126693527-126693527
35 LMX1B NM_002316.3(LMX1B):c.192dup (p.Asp65fs)duplication Likely pathogenic 369955 rs1057516196 9:129377712-129377713 9:126615433-126615434
36 LMX1B NM_001174147.2(LMX1B):c.886+8G>ASNV Conflicting interpretations of pathogenicity 715255 9:129456099-129456099 9:126693820-126693820
37 LMX1B NM_002316.3(LMX1B):c.139+5G>CSNV Uncertain significance 427734 rs1114167421 9:129376872-129376872 9:126614593-126614593
38 LMX1B NM_002316.3(LMX1B):c.1130G>A (p.Arg377His)SNV Uncertain significance 635445 9:129458672-129458672 9:126696393-126696393
39 LMX1B NM_001174147.2(LMX1B):c.94G>A (p.Glu32Lys)SNV Uncertain significance 914082 9:129376822-129376822 9:126614543-126614543
40 LMX1B NM_001174147.2(LMX1B):c.375C>T (p.Thr125=)SNV Uncertain significance 914084 9:129453163-129453163 9:126690884-126690884
41 LMX1B NM_001174147.2(LMX1B):c.520G>A (p.Asp174Asn)SNV Uncertain significance 914597 9:129453308-129453308 9:126691029-126691029
42 LMX1B NM_001174147.2(LMX1B):c.720C>T (p.Val240=)SNV Uncertain significance 914599 9:129455581-129455581 9:126693302-126693302
43 LMX1B NM_001174147.2(LMX1B):c.*17C>TSNV Uncertain significance 913735 9:129458747-129458747 9:126696468-126696468
44 LMX1B NM_001174147.2(LMX1B):c.*18G>ASNV Uncertain significance 914131 9:129458748-129458748 9:126696469-126696469
45 LMX1B NM_001174147.2(LMX1B):c.*44G>TSNV Uncertain significance 914132 9:129458774-129458774 9:126696495-126696495
46 LMX1B NM_001174147.2(LMX1B):c.*90C>TSNV Uncertain significance 914133 9:129458820-129458820 9:126696541-126696541
47 LMX1B NM_001174147.2(LMX1B):c.*105C>GSNV Uncertain significance 914633 9:129458835-129458835 9:126696556-126696556
48 LMX1B NM_001174147.2(LMX1B):c.*128G>ASNV Uncertain significance 914634 9:129458858-129458858 9:126696579-126696579
49 LMX1B NM_001174147.2(LMX1B):c.*253C>TSNV Uncertain significance 914636 9:129458983-129458983 9:126696704-126696704
50 LMX1B NM_001174147.2(LMX1B):c.*286C>TSNV Uncertain significance 912673 9:129459016-129459016 9:126696737-126696737

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 9.71 COL5A2 COL5A1 COL4A4 COL4A3
3 basement membrane GO:0005604 9.54 COL5A1 COL4A4 COL4A3
4 cell leading edge GO:0031252 9.33 LDB2 LDB1 CD2AP
5 slit diaphragm GO:0036057 9.32 NPHS2 NPHS1
6 collagen type IV trimer GO:0005587 9.26 COL4A4 COL4A3
7 collagen type V trimer GO:0005588 8.96 COL5A2 COL5A1
8 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 9.73 COL5A2 COL5A1 COL4A4 COL4A3
2 collagen fibril organization GO:0030199 9.43 FOXC1 COL5A2 COL5A1
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.4 COL4A4 COL4A3
4 epithelial structure maintenance GO:0010669 9.37 LDB2 LDB1
5 regulation of kinase activity GO:0043549 9.32 LDB2 LDB1
6 eye morphogenesis GO:0048592 9.16 COL5A2 COL5A1
7 negative regulation of endodermal cell differentiation GO:1903225 8.96 COL5A2 COL5A1
8 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 extracellular matrix structural constituent GO:0005201 9.26 COL5A2 COL5A1 COL4A4 COL4A3
2 LIM domain binding GO:0030274 9.16 LDB2 LDB1
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
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
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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