NPHS5
MCID: NPH039
MIFTS: 34

Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities (NPHS5)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

MalaCards integrated aliases for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

Name: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 57 29 13 6 39 70
Nephrotic Syndrome Type 5 12 15
Nphs5 57 72
Nephrotic Syndrome Type 5, with or Without Ocular Abnormalities 12
Nephrotic Syndrome 5 with or Without Ocular Abnormalities 72

Characteristics:

HPO:

31
nephrotic syndrome, type 5, with or without ocular abnormalities:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080380
OMIM® 57 614199
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404
MedGen 41 C3280113
UMLS 70 C3280113

Summaries for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

OMIM® : 57 Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by Hasselbacher et al., 2006). Mutation in the LAMB2 gene can also cause Pierson syndrome (609049), which is characterized by nephrotic syndrome, distinct ocular anomalies, namely microcoria, and neurodevelopmental delay. For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (614199) (Updated 20-May-2021)

MalaCards based summary : Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, also known as nephrotic syndrome type 5, is related to pierson syndrome and alport syndrome. An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (Laminin Subunit Beta 2), and among its related pathways/superpathways are Amoebiasis and ECM-receptor interaction. Affiliated tissues include kidney, and related phenotypes are nystagmus and proteinuria

Disease Ontology : 12 A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has material basis in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.

UniProtKB/Swiss-Prot : 72 Nephrotic syndrome 5 with or without ocular abnormalities: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

Related Diseases for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Diseases related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pierson syndrome 10.9
2 alport syndrome 9.7 LAMB2 COL4A6

Symptoms & Phenotypes for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Human phenotypes related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 proteinuria 31 very rare (1%) HP:0000093
3 strabismus 31 very rare (1%) HP:0000486
4 myopia 31 very rare (1%) HP:0000545
5 nephrotic syndrome 31 very rare (1%) HP:0000100
6 stage 5 chronic kidney disease 31 HP:0003774

Clinical features from OMIM®:

614199 (Updated 20-May-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Genetic Tests for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Genetic tests related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 29 LAMB2

Anatomical Context for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

MalaCards organs/tissues related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

40
Kidney

Publications for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Articles related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

# Title Authors PMID Year
1
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 57 6
21236492 2011
2
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. 6 57
19251977 2009
3
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 57 6
16912710 2006
4
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 6
28780565 2017
5
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. 6
20556798 2010
6
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. 6
17256789 2007
7
The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. 57
7670489 1995
8
Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. 6
7885444 1995

Variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

ClinVar genetic disease variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

6 (show top 50) (show all 397)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMB2 NM_002292.4(LAMB2):c.737G>A (p.Arg246Gln) SNV Pathogenic 14534 rs121912491 GRCh37: 3:49168561-49168561
GRCh38: 3:49131128-49131128
2 LAMB2 NM_002292.4(LAMB2):c.961T>C (p.Cys321Arg) SNV Pathogenic 14536 rs121912492 GRCh37: 3:49168248-49168248
GRCh38: 3:49130815-49130815
3 LAMB2 NM_002292.4(LAMB2):c.1478del (p.Cys493fs) Deletion Pathogenic 14537 rs1560075787 GRCh37: 3:49167077-49167077
GRCh38: 3:49129644-49129644
4 LAMB2 NM_002292.4(LAMB2):c.4804del (p.Gln1602fs) Deletion Pathogenic 14538 rs769399002 GRCh37: 3:49159496-49159496
GRCh38: 3:49122063-49122063
5 LAMB2 NM_002292.4(LAMB2):c.440A>G (p.His147Arg) SNV Pathogenic 29774 rs387906644 GRCh37: 3:49169568-49169568
GRCh38: 3:49132135-49132135
6 LAMB2 NM_002292.4(LAMB2):c.1978_1979del (p.Lys660fs) Deletion Pathogenic 829944 rs1374167547 GRCh37: 3:49165930-49165931
GRCh38: 3:49128497-49128498
7 LAMB2 NM_002292.4(LAMB2):c.2344+4_2344+7del Deletion Pathogenic 1032808 GRCh37: 3:49163393-49163396
GRCh38: 3:49125960-49125963
8 LAMB2 NM_002292.4(LAMB2):c.2344+1G>A SNV Pathogenic 1032809 GRCh37: 3:49163399-49163399
GRCh38: 3:49125966-49125966
9 LAMB2 NM_002292.4(LAMB2):c.3425-2A>C SNV Pathogenic 1032810 GRCh37: 3:49161535-49161535
GRCh38: 3:49124102-49124102
10 LAMB2 NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) SNV Pathogenic 1032811 GRCh37: 3:49160137-49160137
GRCh38: 3:49122704-49122704
11 LAMB2 NM_002292.4(LAMB2):c.5261-2delinsGG Indel Pathogenic 1032812 GRCh37: 3:49158797-49158797
GRCh38: 3:49121364-49121364
12 LAMB2 NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) Duplication Pathogenic 472489 rs1553776921 GRCh37: 3:49159603-49159604
GRCh38: 3:49122170-49122171
13 LAMB2 NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) SNV Pathogenic 14532 rs121912489 GRCh37: 3:49163882-49163882
GRCh38: 3:49126449-49126449
14 LAMB2 NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) SNV Pathogenic 660396 rs775456607 GRCh37: 3:49159615-49159615
GRCh38: 3:49122182-49122182
15 LAMB2 NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs) Deletion Pathogenic 842232 GRCh37: 3:49160158-49160200
GRCh38: 3:49122725-49122767
16 LAMB2 NM_002292.4(LAMB2):c.1477del (p.Cys493fs) Deletion Pathogenic 848378 GRCh37: 3:49167078-49167078
GRCh38: 3:49129645-49129645
17 LAMB2 NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys) SNV Pathogenic 14535 rs267607207 GRCh37: 3:49160649-49160649
GRCh38: 3:49123216-49123216
18 LAMB2 NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) SNV Likely pathogenic 14530 rs121912488 GRCh37: 3:49168562-49168562
GRCh38: 3:49131129-49131129
19 LAMB2 NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter) SNV Likely pathogenic 974625 GRCh37: 3:49166536-49166536
GRCh38: 3:49129103-49129103
20 LAMB2 NM_002292.4(LAMB2):c.249+1G>A SNV Likely pathogenic 623146 rs779317615 GRCh37: 3:49169923-49169923
GRCh38: 3:49132490-49132490
21 LAMB2 NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp) SNV Likely pathogenic 635507 rs745926869 GRCh37: 3:49162514-49162514
GRCh38: 3:49125081-49125081
22 LAMB2 NM_002292.4(LAMB2):c.240T>G (p.Ser80Arg) SNV Likely pathogenic 829861 rs746230397 GRCh37: 3:49169933-49169933
GRCh38: 3:49132500-49132500
23 LAMB2 NM_002292.4(LAMB2):c.511A>C (p.Thr171Pro) SNV Uncertain significance 635015 rs1560077016 GRCh37: 3:49169105-49169105
GRCh38: 3:49131672-49131672
24 LAMB2 NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe) SNV Uncertain significance 345998 rs746761674 GRCh37: 3:49163209-49163209
GRCh38: 3:49125776-49125776
25 LAMB2 NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) SNV Uncertain significance 345971 rs781092208 GRCh37: 3:49158770-49158770
GRCh38: 3:49121337-49121337
26 LAMB2 NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) SNV Uncertain significance 345973 rs141473691 GRCh37: 3:49159178-49159178
GRCh38: 3:49121745-49121745
27 LAMB2 NM_002292.4(LAMB2):c.2720+13C>A SNV Uncertain significance 345997 rs369359244 GRCh37: 3:49162673-49162673
GRCh38: 3:49125240-49125240
28 LAMB2 NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) SNV Uncertain significance 346001 rs201289156 GRCh37: 3:49163449-49163449
GRCh38: 3:49126016-49126016
29 LAMB2 NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) SNV Uncertain significance 346008 rs151251039 GRCh37: 3:49168482-49168482
GRCh38: 3:49131049-49131049
30 LAMB2 NM_002292.4(LAMB2):c.386-15C>T SNV Uncertain significance 346010 rs117575041 GRCh37: 3:49169637-49169637
GRCh38: 3:49132204-49132204
31 LAMB2 NM_002292.4(LAMB2):c.*92A>G SNV Uncertain significance 345970 rs886058670 GRCh37: 3:49158567-49158567
GRCh38: 3:49121134-49121134
32 LAMB2 NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) SNV Uncertain significance 346012 rs140371771 GRCh37: 3:49169835-49169835
GRCh38: 3:49132402-49132402
33 LAMB2 NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys) SNV Uncertain significance 346005 rs765252703 GRCh37: 3:49167320-49167320
GRCh38: 3:49129887-49129887
34 LAMB2 NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) SNV Uncertain significance 258596 rs201999373 GRCh37: 3:49167683-49167683
GRCh38: 3:49130250-49130250
35 LAMB2 NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser) SNV Uncertain significance 345981 rs771215576 GRCh37: 3:49160746-49160746
GRCh38: 3:49123313-49123313
36 LAMB2 NM_002292.4(LAMB2):c.2435G>A (p.Arg812His) SNV Uncertain significance 345999 rs886058674 GRCh37: 3:49163233-49163233
GRCh38: 3:49125800-49125800
37 LAMB2 NM_002292.4(LAMB2):c.991C>T (p.Leu331=) SNV Uncertain significance 346006 rs561241970 GRCh37: 3:49168218-49168218
GRCh38: 3:49130785-49130785
38 LAMB2 NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) SNV Uncertain significance 346000 rs142116851 GRCh37: 3:49163422-49163422
GRCh38: 3:49125989-49125989
39 LAMB2 NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) SNV Uncertain significance 345972 rs151292828 GRCh37: 3:49159017-49159017
GRCh38: 3:49121584-49121584
40 LAMB2 NM_002292.4(LAMB2):c.-112A>T SNV Uncertain significance 346015 rs546461860 GRCh37: 3:49170412-49170412
GRCh38: 3:49132979-49132979
41 LAMB2 NM_002292.4(LAMB2):c.916-4A>G SNV Uncertain significance 346007 rs886058677 GRCh37: 3:49168297-49168297
GRCh38: 3:49130864-49130864
42 LAMB2 NM_002292.4(LAMB2):c.4011T>C (p.His1337=) SNV Uncertain significance 345982 rs886058671 GRCh37: 3:49160778-49160778
GRCh38: 3:49123345-49123345
43 LAMB2 NM_002292.4(LAMB2):c.-146G>T SNV Uncertain significance 346016 rs886058678 GRCh37: 3:49170446-49170446
GRCh38: 3:49133013-49133013
44 LAMB2 NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro) SNV Uncertain significance 345991 rs747604203 GRCh37: 3:49162040-49162040
GRCh38: 3:49124607-49124607
45 LAMB2 NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) SNV Uncertain significance 345976 rs764128779 GRCh37: 3:49159196-49159196
GRCh38: 3:49121763-49121763
46 LAMB2 NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) SNV Uncertain significance 345986 rs138540017 GRCh37: 3:49161376-49161376
GRCh38: 3:49123943-49123943
47 LAMB2 NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) SNV Uncertain significance 345994 rs145465720 GRCh37: 3:49162321-49162321
GRCh38: 3:49124888-49124888
48 LAMB2 NM_002292.4(LAMB2):c.1831C>T (p.Leu611=) SNV Uncertain significance 346003 rs886058676 GRCh37: 3:49166153-49166153
GRCh38: 3:49128720-49128720
49 LAMB2 NM_002292.4(LAMB2):c.4007C>T (p.Ala1336Val) SNV Uncertain significance 345983 rs886058672 GRCh37: 3:49160782-49160782
GRCh38: 3:49123349-49123349
50 LAMB2 NM_002292.4(LAMB2):c.4134C>T (p.Asp1378=) SNV Uncertain significance 345980 rs774234171 GRCh37: 3:49160655-49160655
GRCh38: 3:49123222-49123222

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 LAMB2 p.Cys321Arg VAR_031970 rs121912492
2 LAMB2 p.Asn1380Lys VAR_031972 rs267607207
3 LAMB2 p.Leu1393Phe VAR_031973 rs267607208
4 LAMB2 p.His147Arg VAR_066492 rs387906644

Expression for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities.

Pathways for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Pathways related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 LAMB2 COL4A6
2
Show member pathways
10.99 NPNT LAMB2 COL4A6
3 10.92 LAMB2 COL4A6

GO Terms for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Cellular components related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.62 SERPINA10 PXDN NPNT LAMB2
2 extracellular region GO:0005576 9.55 SERPINA10 PXDN NPNT LAMB2 COL4A6
3 endoplasmic reticulum lumen GO:0005788 9.43 SERPINA10 LAMB2 COL4A6
4 basement membrane GO:0005604 9.13 NPNT LAMB2 COL4A6
5 collagen-containing extracellular matrix GO:0062023 8.92 PXDN NPNT LAMB2 COL4A6

Biological processes related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.33 NPNT LAMB2 COL4A6
2 cellular protein metabolic process GO:0044267 9.26 SERPINA10 LAMB2
3 basement membrane assembly GO:0070831 8.96 PXDN LAMB2
4 extracellular matrix organization GO:0030198 8.92 PXDN NPNT LAMB2 COL4A6

Molecular functions related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 NPNT LAMB2
2 extracellular matrix structural constituent GO:0005201 8.92 PXDN NPNT LAMB2 COL4A6

Sources for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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