NPHS11
MCID: NPH095
MIFTS: 22

Nephrotic Syndrome, Type 11 (NPHS11)

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

Aliases & Classifications for Nephrotic Syndrome, Type 11

MalaCards integrated aliases for Nephrotic Syndrome, Type 11:

Name: Nephrotic Syndrome, Type 11 58 30 6
Nphs11 58 76
Nephrotic Syndrome Type 11 12
Nephrotic Syndrome 11 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
not responsive to steroid treatment
onset of renal disease in first decade
most patients require renal transplantation
no recurrence of nephrotic syndrome after transplantation
some patients may have extrarenal involvement with microcephaly and delayed development or mildly impaired intellectual development


HPO:

33
nephrotic syndrome, type 11:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 11

UniProtKB/Swiss-Prot : 76 Nephrotic syndrome 11: 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. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life.

MalaCards based summary : Nephrotic Syndrome, Type 11, is also known as nphs11. An important gene associated with Nephrotic Syndrome, Type 11 is NUP107 (Nucleoporin 107). Affiliated tissues include kidney, and related phenotypes are focal segmental glomerulosclerosis and proteinuria

Disease Ontology : 12 A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has material basis in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.

OMIM : 58 Nephrotic syndrome type 11 is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (summary by Miyake et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (616730)

Related Diseases for Nephrotic Syndrome, Type 11

Symptoms & Phenotypes for Nephrotic Syndrome, Type 11

Human phenotypes related to Nephrotic Syndrome, Type 11:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 33 very rare (1%) HP:0000097
2 proteinuria 33 HP:0000093
3 nephrotic syndrome 33 HP:0000100
4 stage 5 chronic kidney disease 33 HP:0003774
5 hypoalbuminemia 33 HP:0003073
6 minimal change glomerulonephritis 33 HP:0012579

Symptoms via clinical synopsis from OMIM:

58
Chest External Features:
pectus excavatum

Head And Neck Face:
smooth philtrum
micrognathia
sloping forehead
bitemporal narrowing
dysmorphic facial features (in some patients)

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Skeletal Limbs:
cubitus valgus

Skeletal Spine:
kyphoscoliosis

Neurologic Central Nervous System:
developmental delay
learning disabilities
speech delay
impaired intellectual development (in some patients)

Cardiovascular Heart:
ventricular septal defect (1 patient)
dilated cardiomyopathy (1 patient)

Head And Neck Head:
microcephaly (-5 to -8 sd) (in some patients)

Skeletal Hands:
clinodactyly
arachnodactyly
bifid thumb

Laboratory Abnormalities:
proteinuria
hypercholesterolemia
decreased serum albumin

Muscle Soft Tissue:
edema

Genitourinary Kidneys:
nephrotic syndrome
tubular atrophy
focal segmental glomerulosclerosis
interstitial fibrosis
end-stage renal disease
more
Skeletal Feet:
hallux valgus

Growth Height:
short stature (in some patients)

Growth Other:
poor overall growth

Skeletal:
skeletal anomalies (in some patients)

Clinical features from OMIM:

616730

Drugs & Therapeutics for Nephrotic Syndrome, Type 11

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 11

Genetic Tests for Nephrotic Syndrome, Type 11

Genetic tests related to Nephrotic Syndrome, Type 11:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 11 30 NUP107

Anatomical Context for Nephrotic Syndrome, Type 11

MalaCards organs/tissues related to Nephrotic Syndrome, Type 11:

42
Kidney

Publications for Nephrotic Syndrome, Type 11

Variations for Nephrotic Syndrome, Type 11

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 11:

76
# Symbol AA change Variation ID SNP ID
1 NUP107 p.Asp157Tyr VAR_076358 rs864321633
2 NUP107 p.Asp831Ala VAR_076359 rs864321632

ClinVar genetic disease variations for Nephrotic Syndrome, Type 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP107 NM_020401.3(NUP107): c.969+1G> A single nucleotide variant Pathogenic rs864321688 GRCh38 Chromosome 12, 68713809: 68713809
2 NUP107 NM_020401.3(NUP107): c.2492A> C (p.Asp831Ala) single nucleotide variant Pathogenic rs864321632 GRCh37 Chromosome 12, 69129114: 69129114
3 NUP107 NM_020401.3(NUP107): c.2492A> C (p.Asp831Ala) single nucleotide variant Pathogenic rs864321632 GRCh38 Chromosome 12, 68735334: 68735334
4 NUP107 NM_020401.3(NUP107): c.1079_1083delAAGAG (p.Glu360Glyfs) deletion Pathogenic rs864321687 GRCh38 Chromosome 12, 68715736: 68715740
5 NUP107 NM_020401.3(NUP107): c.1079_1083delAAGAG (p.Glu360Glyfs) deletion Pathogenic rs864321687 GRCh37 Chromosome 12, 69109516: 69109520
6 NUP107 NM_020401.3(NUP107): c.969+1G> A single nucleotide variant Pathogenic rs864321688 GRCh37 Chromosome 12, 69107589: 69107589
7 NUP107 NM_020401.3(NUP107): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs864321633 GRCh37 Chromosome 12, 69090619: 69090619
8 NUP107 NM_020401.3(NUP107): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs864321633 GRCh38 Chromosome 12, 68696839: 68696839
9 NUP107 NM_020401.3(NUP107): c.2666A> G (p.Tyr889Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 68741976: 68741976
10 NUP107 NM_020401.3(NUP107): c.2666A> G (p.Tyr889Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 69135756: 69135756

Expression for Nephrotic Syndrome, Type 11

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 11.

Pathways for Nephrotic Syndrome, Type 11

GO Terms for Nephrotic Syndrome, Type 11

Sources for Nephrotic Syndrome, Type 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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