NPHS5
MCID: NPH039
MIFTS: 25

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

Categories: Genetic diseases, Nephrological diseases, Rare diseases

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

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

Name: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 54 24 13 69
Nephrotic Syndrome 5 with or Without Ocular Abnormalities 66 29
Nphs5 24 66
Lamb2-Related Infantile-Onset Nephrotic Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Rare renal diseases


External Ids:

OMIM 54 614199
Orphanet 56 ORPHA306507
ICD10 via Orphanet 34 N04.8
MedGen 40 C3280113
MeSH 42 D009404

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

OMIM : 54 Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal... (614199) more...

MalaCards based summary : Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, also known as nephrotic syndrome 5 with or without ocular abnormalities, is related to pierson syndrome and nephrotic syndrome, type 1, and has symptoms including nystagmus, proteinuria and strabismus. An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (Laminin Subunit Beta 2). The drugs Cyclophosphamide and rituximab have been mentioned in the context of this disorder. Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 66 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:

id Related Disease Score Top Affiliating Genes
1 pierson syndrome 10.8
2 nephrotic syndrome, type 1 10.8

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)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 proteinuria 32 HP:0000093
3 strabismus 32 HP:0000486
4 nephrotic syndrome 32 HP:0000100
5 myopia 32 HP:0000545
6 stage 5 chronic kidney disease 32 HP:0003774

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

Drugs for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
2
rituximab Approved Phase 3 174722-31-7 10201696
3
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
5
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
6 Prednisolone acetate Phase 3
7 Alkylating Agents Phase 3
8 glucocorticoids Phase 3
9 Gastrointestinal Agents Phase 3
10 Neuroprotective Agents Phase 3
11 Hormone Antagonists Phase 3
12 Hormones Phase 3
13 Peripheral Nervous System Agents Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
15 Prednisolone hemisuccinate Phase 3
16 Prednisolone phosphate Phase 3
17 Immunosuppressive Agents Phase 3
18 Protective Agents Phase 3
19 Antiemetics Phase 3
20 Anti-Inflammatory Agents Phase 3
21 Methylprednisolone acetate Phase 3
22 Methylprednisolone Hemisuccinate Phase 3
23 Antirheumatic Agents Phase 3
24 Antineoplastic Agents, Alkylating Phase 3
25 Autonomic Agents Phase 3
26 Antineoplastic Agents, Hormonal Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rituximab Versus Steroids and Cyclophosphamide in the Treatment of Idiopathic Membranous Nephropathy Recruiting NCT03018535 Phase 3
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 China Obstetrics Alliance Cohort Study Enrolling by invitation NCT03038555

Search 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:

id Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 29 24 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:

39
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:

66
id Symbol AA change Variation ID SNP ID
1 LAMB2 p.His147Arg VAR_066492 rs387906644

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

6
id 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.961T> C (p.Cys321Arg) single nucleotide variant Pathogenic rs121912492 GRCh37 Chromosome 3, 49168248: 49168248
3 LAMB2 LAMB2, 1-BP DEL, 1478G deletion Pathogenic
4 LAMB2 NM_002292.3(LAMB2): c.4804delC (p.Gln1602Argfs) deletion Pathogenic rs769399002 GRCh37 Chromosome 3, 49159496: 49159496
5 LAMB2 NM_002292.3(LAMB2): c.440A> G (p.His147Arg) single nucleotide variant Pathogenic rs387906644 GRCh37 Chromosome 3, 49169568: 49169568

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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