MCID: NPH094
MIFTS: 19

Nephrotic Syndrome 14

Categories: Genetic diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Nephrotic Syndrome 14

MalaCards integrated aliases for Nephrotic Syndrome 14:

Name: Nephrotic Syndrome 14 57 12 75 6
Nphs14 57 75
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due to Sgpl1 Deficiency 59
Familial Steroid-Resistant Nephrotic Syndrome with Adrenal Insufficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
highly variable phenotype
highly variable severity
later onset has been reported
onset usually in utero or infancy


Classifications:



External Ids:

OMIM 57 617575
Disease Ontology 12 DOID:0080265
Orphanet 59 ORPHA506334
MeSH 44 D009404

Summaries for Nephrotic Syndrome 14

OMIM : 57 NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017). For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). (617575)

MalaCards based summary : Nephrotic Syndrome 14, is also known as nphs14. An important gene associated with Nephrotic Syndrome 14 is SGPL1 (Sphingosine-1-Phosphate Lyase 1). Affiliated tissues include kidney and testis.

UniProtKB/Swiss-Prot : 75 Nephrotic syndrome 14: 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. NPHS14 is an autosomal recessive syndromic, steroid-resistant form that progresses to end-stage renal failure. Some NPHS14 patients manifest ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects.

Related Diseases for Nephrotic Syndrome 14

Symptoms & Phenotypes for Nephrotic Syndrome 14

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
strabismus

Neurologic Central Nervous System:
seizures
ataxia
developmental regression
developmental delay
cognitive decline
more
Skin Nails Hair Skin:
ichthyosis
hyperpigmentation

Muscle Soft Tissue:
edema
hypotonia

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
absence of testis

Immunology:
lymphopenia

Prenatal Manifestations:
fetal hydrops
fetal demise

Endocrine Features:
hypothyroidism
hypoglycemia
hypogonadism
adrenal insufficiency
adrenal calcifications
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
proteinuria
hypoalbuminemia
increased serum triglycerides
increased acth
increased plasma sphingolipid intermediates and ceramide species

Neurologic Peripheral Nervous System:
peripheral neuropathy

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
end-stage renal disease
diffuse mesangial sclerosis
renal podocyte effacement

Head And Neck Ears:
hearing loss, sensorineural


Clinical features from OMIM:

617575

Drugs & Therapeutics for Nephrotic Syndrome 14

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome 14

Genetic Tests for Nephrotic Syndrome 14

Anatomical Context for Nephrotic Syndrome 14

MalaCards organs/tissues related to Nephrotic Syndrome 14:

41
Kidney, Testis

Publications for Nephrotic Syndrome 14

Variations for Nephrotic Syndrome 14

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome 14:

75
# Symbol AA change Variation ID SNP ID
1 SGPL1 p.Arg222Gln VAR_079213 rs769259446
2 SGPL1 p.Arg222Trp VAR_079214

ClinVar genetic disease variations for Nephrotic Syndrome 14:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGPL1 NM_003901.3(SGPL1): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs769259446 GRCh37 Chromosome 10, 72628151: 72628151
2 SGPL1 NM_003901.3(SGPL1): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs769259446 GRCh38 Chromosome 10, 70868394: 70868394
3 SGPL1 NM_003901.3(SGPL1): c.1633_1635delTTC (p.Phe545del) deletion Pathogenic rs1131692252 GRCh37 Chromosome 10, 72637018: 72637020
4 SGPL1 NM_003901.3(SGPL1): c.1633_1635delTTC (p.Phe545del) deletion Pathogenic rs1131692252 GRCh38 Chromosome 10, 70877261: 70877263
5 SGPL1 NM_003901.3(SGPL1): c.261+1G> A single nucleotide variant Pathogenic rs1131692253 GRCh38 Chromosome 10, 70851211: 70851211
6 SGPL1 NM_003901.3(SGPL1): c.261+1G> A single nucleotide variant Pathogenic rs1131692253 GRCh37 Chromosome 10, 72610968: 72610968
7 SGPL1 NM_003901.3(SGPL1): c.7dup (p.Ser3Lysfs) duplication Pathogenic rs1131692254 GRCh37 Chromosome 10, 72576616: 72576616
8 SGPL1 NM_003901.3(SGPL1): c.7dup (p.Ser3Lysfs) duplication Pathogenic rs1131692254 GRCh38 Chromosome 10, 70816860: 70816860
9 SGPL1 NM_003901.3(SGPL1): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs1131692255 GRCh37 Chromosome 10, 72628150: 72628150
10 SGPL1 NM_003901.3(SGPL1): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs1131692255 GRCh38 Chromosome 10, 70868393: 70868393
11 SGPL1 NM_003901.3(SGPL1): c.1037G> T (p.Ser346Ile) single nucleotide variant Pathogenic rs1131692256 GRCh37 Chromosome 10, 72631721: 72631721
12 SGPL1 NM_003901.3(SGPL1): c.1037G> T (p.Ser346Ile) single nucleotide variant Pathogenic rs1131692256 GRCh38 Chromosome 10, 70871964: 70871964
13 SGPL1 NM_003901.3(SGPL1): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs746887949 GRCh37 Chromosome 10, 72636365: 72636365
14 SGPL1 NM_003901.3(SGPL1): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs746887949 GRCh38 Chromosome 10, 70876608: 70876608
15 SGPL1 NM_003901.3(SGPL1): c.934delC (p.Leu312Phefs) deletion Pathogenic rs1131692235 GRCh37 Chromosome 10, 72631618: 72631618
16 SGPL1 NM_003901.3(SGPL1): c.934delC (p.Leu312Phefs) deletion Pathogenic rs1131692235 GRCh38 Chromosome 10, 70871861: 70871861

Expression for Nephrotic Syndrome 14

Search GEO for disease gene expression data for Nephrotic Syndrome 14.

Pathways for Nephrotic Syndrome 14

GO Terms for Nephrotic Syndrome 14

Sources for Nephrotic Syndrome 14

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
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37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
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54 NINDS
55 Novoseek
57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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