NPHS5
MCID: NPH039
MIFTS: 19

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 57 29 13 6 40 73
Nphs5 57 75
Nephrotic Syndrome 5 with or Without Ocular Abnormalities 75
Lamb2-Related Infantile-Onset Nephrotic Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
lamb2-related infantile-onset nephrotic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
nephrotic syndrome, type 5, with or without ocular abnormalities:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 614199
Orphanet 59 ORPHA306507
ICD10 via Orphanet 34 N04.8
MedGen 42 C3280113
MeSH 44 D009404
UMLS 73 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)

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 proteinuria

UniProtKB/Swiss-Prot : 75 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 31.2 LAMB2 USP19

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

Clinical features from OMIM:

614199

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 frequent (33%) HP:0000639
2 proteinuria 32 HP:0000093
3 strabismus 32 frequent (33%) HP:0000486
4 myopia 32 frequent (33%) HP:0000545
5 nephrotic syndrome 32 HP:0000100
6 stage 5 chronic kidney disease 32 HP:0003774

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:

41
Kidney

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

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:

75
# 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 173)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB2 NM_002292.3(LAMB2): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs121912491 GRCh37 Chromosome 3, 49168561: 49168561
2 LAMB2 NM_002292.3(LAMB2): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs121912491 GRCh38 Chromosome 3, 49131128: 49131128
3 LAMB2 NM_002292.3(LAMB2): c.4140C> A (p.Asn1380Lys) single nucleotide variant Uncertain significance rs267607207 GRCh37 Chromosome 3, 49160649: 49160649
4 LAMB2 NM_002292.3(LAMB2): c.4140C> A (p.Asn1380Lys) single nucleotide variant Uncertain significance rs267607207 GRCh38 Chromosome 3, 49123216: 49123216
5 LAMB2 NM_002292.3(LAMB2): c.961T> C (p.Cys321Arg) single nucleotide variant Pathogenic rs121912492 GRCh37 Chromosome 3, 49168248: 49168248
6 LAMB2 NM_002292.3(LAMB2): c.961T> C (p.Cys321Arg) single nucleotide variant Pathogenic rs121912492 GRCh38 Chromosome 3, 49130815: 49130815
7 LAMB2 LAMB2, 1-BP DEL, 1478G deletion Pathogenic
8 LAMB2 NM_002292.3(LAMB2): c.4804delC (p.Gln1602Argfs) deletion Pathogenic rs769399002 GRCh38 Chromosome 3, 49122063: 49122063
9 LAMB2 NM_002292.3(LAMB2): c.4804delC (p.Gln1602Argfs) deletion Pathogenic rs769399002 GRCh37 Chromosome 3, 49159496: 49159496
10 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
11 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
12 LAMB2 NM_002292.3(LAMB2): c.440A> G (p.His147Arg) single nucleotide variant Pathogenic rs387906644 GRCh37 Chromosome 3, 49169568: 49169568
13 LAMB2 NM_002292.3(LAMB2): c.440A> G (p.His147Arg) single nucleotide variant Pathogenic rs387906644 GRCh38 Chromosome 3, 49132135: 49132135
14 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh38 Chromosome 3, 49121330: 49121330
15 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh37 Chromosome 3, 49158763: 49158763
16 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh38 Chromosome 3, 49122170: 49122170
17 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh37 Chromosome 3, 49159603: 49159603
18 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh37 Chromosome 3, 49160755: 49160755
19 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh38 Chromosome 3, 49123322: 49123322
20 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh38 Chromosome 3, 49125150: 49125150
21 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh37 Chromosome 3, 49162583: 49162583
22 LAMB2 NM_002292.3(LAMB2): c.2673C> T (p.Gly891=) single nucleotide variant Benign rs144092322 GRCh37 Chromosome 3, 49162733: 49162733
23 LAMB2 NM_002292.3(LAMB2): c.2673C> T (p.Gly891=) single nucleotide variant Benign rs144092322 GRCh38 Chromosome 3, 49125300: 49125300
24 LAMB2 NM_002292.3(LAMB2): c.2307C> T (p.Leu769=) single nucleotide variant Benign/Likely benign rs147076626 GRCh37 Chromosome 3, 49163437: 49163437
25 LAMB2 NM_002292.3(LAMB2): c.2307C> T (p.Leu769=) single nucleotide variant Benign/Likely benign rs147076626 GRCh38 Chromosome 3, 49126004: 49126004
26 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh38 Chromosome 3, 49128787: 49128787
27 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh37 Chromosome 3, 49166220: 49166220
28 LAMB2 NM_002292.3(LAMB2): c.1724G> A (p.Arg575Gln) single nucleotide variant Benign rs61729152 GRCh37 Chromosome 3, 49166460: 49166460
29 LAMB2 NM_002292.3(LAMB2): c.1724G> A (p.Arg575Gln) single nucleotide variant Benign rs61729152 GRCh38 Chromosome 3, 49129027: 49129027
30 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh37 Chromosome 3, 49167696: 49167696
31 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh38 Chromosome 3, 49130263: 49130263
32 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh37 Chromosome 3, 49169782: 49169782
33 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh38 Chromosome 3, 49132349: 49132349
34 LAMB2 NM_002292.3(LAMB2): c.5109C> T (p.Arg1703=) single nucleotide variant Conflicting interpretations of pathogenicity rs151292828 GRCh38 Chromosome 3, 49121584: 49121584
35 LAMB2 NM_002292.3(LAMB2): c.5109C> T (p.Arg1703=) single nucleotide variant Conflicting interpretations of pathogenicity rs151292828 GRCh37 Chromosome 3, 49159017: 49159017
36 LAMB2 NM_002292.3(LAMB2): c.5039C> T (p.Ala1680Val) single nucleotide variant Uncertain significance rs141473691 GRCh38 Chromosome 3, 49121745: 49121745
37 LAMB2 NM_002292.3(LAMB2): c.5039C> T (p.Ala1680Val) single nucleotide variant Uncertain significance rs141473691 GRCh37 Chromosome 3, 49159178: 49159178
38 LAMB2 NM_002292.3(LAMB2): c.3582C> T (p.Phe1194=) single nucleotide variant Conflicting interpretations of pathogenicity rs138540017 GRCh38 Chromosome 3, 49123943: 49123943
39 LAMB2 NM_002292.3(LAMB2): c.3582C> T (p.Phe1194=) single nucleotide variant Conflicting interpretations of pathogenicity rs138540017 GRCh37 Chromosome 3, 49161376: 49161376
40 LAMB2 NM_002292.3(LAMB2): c.3355G> A (p.Gly1119Ser) single nucleotide variant Uncertain significance rs199570781 GRCh38 Chromosome 3, 49124259: 49124259
41 LAMB2 NM_002292.3(LAMB2): c.3355G> A (p.Gly1119Ser) single nucleotide variant Uncertain significance rs199570781 GRCh37 Chromosome 3, 49161692: 49161692
42 LAMB2 NM_002292.3(LAMB2): c.4222C> T (p.Leu1408=) single nucleotide variant Conflicting interpretations of pathogenicity rs143974640 GRCh38 Chromosome 3, 49123134: 49123134
43 LAMB2 NM_002292.3(LAMB2): c.4222C> T (p.Leu1408=) single nucleotide variant Conflicting interpretations of pathogenicity rs143974640 GRCh37 Chromosome 3, 49160567: 49160567
44 LAMB2 NM_002292.3(LAMB2): c.3232C> T (p.Arg1078Cys) single nucleotide variant Uncertain significance rs143284092 GRCh38 Chromosome 3, 49124490: 49124490
45 LAMB2 NM_002292.3(LAMB2): c.3232C> T (p.Arg1078Cys) single nucleotide variant Uncertain significance rs143284092 GRCh37 Chromosome 3, 49161923: 49161923
46 LAMB2 NM_002292.3(LAMB2): c.3071C> T (p.Pro1024Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368506627 GRCh38 Chromosome 3, 49124739: 49124739
47 LAMB2 NM_002292.3(LAMB2): c.3071C> T (p.Pro1024Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368506627 GRCh37 Chromosome 3, 49162172: 49162172
48 LAMB2 NM_002292.3(LAMB2): c.816T> C (p.Tyr272=) single nucleotide variant Conflicting interpretations of pathogenicity rs151251039 GRCh38 Chromosome 3, 49131049: 49131049
49 LAMB2 NM_002292.3(LAMB2): c.816T> C (p.Tyr272=) single nucleotide variant Conflicting interpretations of pathogenicity rs151251039 GRCh37 Chromosome 3, 49168482: 49168482
50 LAMB2 NM_002292.3(LAMB2): c.253G> A (p.Glu85Lys) single nucleotide variant Uncertain significance rs140371771 GRCh38 Chromosome 3, 49132402: 49132402

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....