NPHS5
MCID: NPH039
MIFTS: 21

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

Categories: Genetic diseases, Nephrological diseases, Rare 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 58 30 13 6 41 74
Nphs5 58 76
Nephrotic Syndrome Type 5, with or Without Ocular Abnormalities 12
Nephrotic Syndrome 5 with or Without Ocular Abnormalities 76
Lamb2-Related Infantile-Onset Nephrotic Syndrome 60
Nephrotic Syndrome Type 5 12

Characteristics:

Orphanet epidemiological data:

60
lamb2-related infantile-onset nephrotic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

33
nephrotic syndrome, type 5, with or without ocular abnormalities:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0080380
OMIM 58 614199
MeSH 45 D009404
ICD10 via Orphanet 35 N04.8
Orphanet 60 ORPHA306507
MedGen 43 C3280113
UMLS 74 C3280113

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

OMIM : 58 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)

MalaCards based summary : Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, also known as nphs5, is related to pierson syndrome. An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (Laminin Subunit Beta 2). Affiliated tissues include kidney, and related phenotypes are nystagmus and strabismus

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 : 76 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 31.0 LAMB2 USP19

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 frequent (33%) HP:0000639
2 strabismus 33 frequent (33%) HP:0000486
3 myopia 33 frequent (33%) HP:0000545
4 proteinuria 33 HP:0000093
5 nephrotic syndrome 33 HP:0000100
6 stage 5 chronic kidney disease 33 HP:0003774

Clinical features from OMIM:

614199

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 30 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:

42
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 Year
1
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. ( 21236492 )
2011
2
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. ( 19251977 )
2009
3
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. ( 16912710 )
2006
4
Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. ( 7885444 )
1995

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

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

76
# 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

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

6 (show top 50) (show all 178)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB2 NM_002292.3(LAMB2): c.2067C> G (p.Tyr689Ter) single nucleotide variant Pathogenic rs121912489 GRCh37 Chromosome 3, 49163882: 49163882
2 LAMB2 NM_002292.3(LAMB2): c.2067C> G (p.Tyr689Ter) single nucleotide variant Pathogenic rs121912489 GRCh38 Chromosome 3, 49126449: 49126449
3 LAMB2 NM_002292.3(LAMB2): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs121912491 GRCh37 Chromosome 3, 49168561: 49168561
4 LAMB2 NM_002292.3(LAMB2): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs121912491 GRCh38 Chromosome 3, 49131128: 49131128
5 LAMB2 NM_002292.3(LAMB2): c.4140C> A (p.Asn1380Lys) single nucleotide variant Uncertain significance rs267607207 GRCh37 Chromosome 3, 49160649: 49160649
6 LAMB2 NM_002292.3(LAMB2): c.4140C> A (p.Asn1380Lys) single nucleotide variant Uncertain significance rs267607207 GRCh38 Chromosome 3, 49123216: 49123216
7 LAMB2 NM_002292.3(LAMB2): c.961T> C (p.Cys321Arg) single nucleotide variant Pathogenic rs121912492 GRCh37 Chromosome 3, 49168248: 49168248
8 LAMB2 NM_002292.3(LAMB2): c.961T> C (p.Cys321Arg) single nucleotide variant Pathogenic rs121912492 GRCh38 Chromosome 3, 49130815: 49130815
9 LAMB2 NM_002292.4(LAMB2): c.1478del (p.Cys493Serfs) deletion Pathogenic GRCh37 Chromosome 3, 49167077: 49167077
10 LAMB2 NM_002292.4(LAMB2): c.1478del (p.Cys493Serfs) deletion Pathogenic GRCh38 Chromosome 3, 49129644: 49129644
11 LAMB2 NM_002292.3(LAMB2): c.4804delC (p.Gln1602Argfs) deletion Pathogenic rs769399002 GRCh38 Chromosome 3, 49122063: 49122063
12 LAMB2 NM_002292.3(LAMB2): c.4804delC (p.Gln1602Argfs) deletion Pathogenic rs769399002 GRCh37 Chromosome 3, 49159496: 49159496
13 LAMB2 NM_002292.3(LAMB2): c.4177C> T (p.Leu1393Phe) single nucleotide variant no interpretation for the single variant rs267607208 GRCh37 Chromosome 3, 49160612: 49160612
14 LAMB2 NM_002292.3(LAMB2): c.4177C> T (p.Leu1393Phe) single nucleotide variant no interpretation for the single variant rs267607208 GRCh38 Chromosome 3, 49123179: 49123179
15 LAMB2 NM_002292.3(LAMB2): c.440A> G (p.His147Arg) single nucleotide variant Pathogenic rs387906644 GRCh37 Chromosome 3, 49169568: 49169568
16 LAMB2 NM_002292.3(LAMB2): c.440A> G (p.His147Arg) single nucleotide variant Pathogenic rs387906644 GRCh38 Chromosome 3, 49132135: 49132135
17 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh38 Chromosome 3, 49121330: 49121330
18 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh37 Chromosome 3, 49158763: 49158763
19 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh38 Chromosome 3, 49122170: 49122170
20 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh37 Chromosome 3, 49159603: 49159603
21 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh37 Chromosome 3, 49160755: 49160755
22 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh38 Chromosome 3, 49123322: 49123322
23 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh38 Chromosome 3, 49125150: 49125150
24 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh37 Chromosome 3, 49162583: 49162583
25 LAMB2 NM_002292.3(LAMB2): c.2673C> T (p.Gly891=) single nucleotide variant Benign rs144092322 GRCh37 Chromosome 3, 49162733: 49162733
26 LAMB2 NM_002292.3(LAMB2): c.2673C> T (p.Gly891=) single nucleotide variant Benign rs144092322 GRCh38 Chromosome 3, 49125300: 49125300
27 LAMB2 NM_002292.3(LAMB2): c.2307C> T (p.Leu769=) single nucleotide variant Benign/Likely benign rs147076626 GRCh37 Chromosome 3, 49163437: 49163437
28 LAMB2 NM_002292.3(LAMB2): c.2307C> T (p.Leu769=) single nucleotide variant Benign/Likely benign rs147076626 GRCh38 Chromosome 3, 49126004: 49126004
29 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh38 Chromosome 3, 49128787: 49128787
30 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh37 Chromosome 3, 49166220: 49166220
31 LAMB2 NM_002292.3(LAMB2): c.1724G> A (p.Arg575Gln) single nucleotide variant Benign rs61729152 GRCh37 Chromosome 3, 49166460: 49166460
32 LAMB2 NM_002292.3(LAMB2): c.1724G> A (p.Arg575Gln) single nucleotide variant Benign rs61729152 GRCh38 Chromosome 3, 49129027: 49129027
33 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh37 Chromosome 3, 49167696: 49167696
34 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh38 Chromosome 3, 49130263: 49130263
35 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh37 Chromosome 3, 49169782: 49169782
36 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh38 Chromosome 3, 49132349: 49132349
37 LAMB2 NM_002292.3(LAMB2): c.5109C> T (p.Arg1703=) single nucleotide variant Conflicting interpretations of pathogenicity rs151292828 GRCh38 Chromosome 3, 49121584: 49121584
38 LAMB2 NM_002292.3(LAMB2): c.5109C> T (p.Arg1703=) single nucleotide variant Conflicting interpretations of pathogenicity rs151292828 GRCh37 Chromosome 3, 49159017: 49159017
39 LAMB2 NM_002292.3(LAMB2): c.5039C> T (p.Ala1680Val) single nucleotide variant Uncertain significance rs141473691 GRCh38 Chromosome 3, 49121745: 49121745
40 LAMB2 NM_002292.3(LAMB2): c.5039C> T (p.Ala1680Val) single nucleotide variant Uncertain significance rs141473691 GRCh37 Chromosome 3, 49159178: 49159178
41 LAMB2 NM_002292.3(LAMB2): c.3582C> T (p.Phe1194=) single nucleotide variant Conflicting interpretations of pathogenicity rs138540017 GRCh38 Chromosome 3, 49123943: 49123943
42 LAMB2 NM_002292.3(LAMB2): c.3582C> T (p.Phe1194=) single nucleotide variant Conflicting interpretations of pathogenicity rs138540017 GRCh37 Chromosome 3, 49161376: 49161376
43 LAMB2 NM_002292.3(LAMB2): c.3355G> A (p.Gly1119Ser) single nucleotide variant Uncertain significance rs199570781 GRCh38 Chromosome 3, 49124259: 49124259
44 LAMB2 NM_002292.3(LAMB2): c.3355G> A (p.Gly1119Ser) single nucleotide variant Uncertain significance rs199570781 GRCh37 Chromosome 3, 49161692: 49161692
45 LAMB2 NM_002292.3(LAMB2): c.4222C> T (p.Leu1408=) single nucleotide variant Conflicting interpretations of pathogenicity rs143974640 GRCh38 Chromosome 3, 49123134: 49123134
46 LAMB2 NM_002292.3(LAMB2): c.4222C> T (p.Leu1408=) single nucleotide variant Conflicting interpretations of pathogenicity rs143974640 GRCh37 Chromosome 3, 49160567: 49160567
47 LAMB2 NM_002292.3(LAMB2): c.3232C> T (p.Arg1078Cys) single nucleotide variant Uncertain significance rs143284092 GRCh38 Chromosome 3, 49124490: 49124490
48 LAMB2 NM_002292.3(LAMB2): c.3232C> T (p.Arg1078Cys) single nucleotide variant Uncertain significance rs143284092 GRCh37 Chromosome 3, 49161923: 49161923
49 LAMB2 NM_002292.3(LAMB2): c.3071C> T (p.Pro1024Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368506627 GRCh38 Chromosome 3, 49124739: 49124739
50 LAMB2 NM_002292.3(LAMB2): c.3071C> T (p.Pro1024Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368506627 GRCh37 Chromosome 3, 49162172: 49162172

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

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