MCID: NPH097
MIFTS: 17

Nephrosialidosis

Categories: Nephrological diseases

Aliases & Classifications for Nephrosialidosis

MalaCards integrated aliases for Nephrosialidosis:

Name: Nephrosialidosis 57 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
? neuraminidase deficiency (256550)


HPO:

32
nephrosialidosis:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset
Clinical modifier death in childhood


Classifications:



External Ids:

OMIM 57 256150
MedGen 42 C0268232
UMLS 72 C0268232

Summaries for Nephrosialidosis

MalaCards based summary : Nephrosialidosis is related to neuraminidase deficiency and glycoproteinosis. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are abnormal facial shape and renal insufficiency

More information from OMIM: 256150

Related Diseases for Nephrosialidosis

Diseases related to Nephrosialidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 neuraminidase deficiency 10.5
2 glycoproteinosis 10.4
3 mucolipidosis 10.3
4 nephrotic syndrome 10.3
5 kidney disease 10.3
6 galactosialidosis 10.1
7 hydrocephalus 10.1
8 gingival hypertrophy 10.1
9 congenital hydrocephalus 10.1
10 fetal edema 10.1
11 hydrops fetalis 10.1
12 mucolipidoses 10.1
13 oligosaccharidosis 10.1

Graphical network of the top 20 diseases related to Nephrosialidosis:



Diseases related to Nephrosialidosis

Symptoms & Phenotypes for Nephrosialidosis

Human phenotypes related to Nephrosialidosis:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 32 HP:0001999
2 renal insufficiency 32 HP:0000083
3 nephropathy 32 HP:0000112
4 intellectual disability, severe 32 HP:0010864
5 abnormality of metabolism/homeostasis 32 HP:0001939
6 ascites 32 HP:0001541
7 abnormality of the skeletal system 32 HP:0000924
8 nephrotic syndrome 32 HP:0000100
9 pericardial effusion 32 HP:0001698
10 bone-marrow foam cells 32 HP:0004333

Symptoms via clinical synopsis from OMIM:

57
G U:
renal failure
nephrosis
childhood glomerular nephropathy

H E E N T:
dysmorphic facies
fundus cherry red spot

Neuro:
early and severe mental retardation

Heme:
bone marrow foam cells

Lab:
leukocyte alpha-(2-6) neuraminidase defect
renal epithelial cell damage worst in glomeruli and proximal tubules, with high molecular weight sialyloligosaccharide storage

Misc:
early death

G I:
visceral storage disease
congenital ascites

Skel:
skeletal abnormalities

Cardiac:
early-onset pericardial effusion

Clinical features from OMIM:

256150

Drugs & Therapeutics for Nephrosialidosis

Search Clinical Trials , NIH Clinical Center for Nephrosialidosis

Genetic Tests for Nephrosialidosis

Anatomical Context for Nephrosialidosis

MalaCards organs/tissues related to Nephrosialidosis:

41
Bone, Bone Marrow, Kidney

Publications for Nephrosialidosis

Articles related to Nephrosialidosis:

(show all 16)
# Title Authors PMID Year
1
[A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study]. 38 8
747492 1978
2
Nephrosis in two siblings with infantile sialic acid storage disease. 8
2347341 1990
3
Acid alpha-neuraminidase deficiency: a nephropathic phenotype? 8
3180505 1988
4
Nephrotic syndrome and hypertension in two children with Hurler syndrome. 8
3084745 1986
5
[Sialidosis due to alpha-2-6 neuraminidase deficiency: a heterogeneous group]. 8
747491 1978
6
Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. 8
610425 1977
7
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child. 38
30450471 2018
8
A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease. 38
23634271 2013
9
Histological studies of renal biopsy in a boy with nephrosialidosis. 38
21568622 2011
10
Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland. 38
8942016 1996
11
Mucocutaneous bleeding, a rare but severe complication in nephrosialidosis. 38
7957436 1994
12
Nephrosialidosis: ultrastructural and lectin histochemical study. 38
8213076 1993
13
Pathological study on a severe sialidosis (alpha-neuraminidase deficiency). 38
3799140 1986
14
A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1. 38
6414819 1983
15
[Ocular findings in a peculiar type of mucolipidosis called nephrosialidosis]. 38
7440902 1980
16
[A new type of sialidosis with kidney disease: nephrosialidosis. II. Anatomic study]. 38
747493 1978

Variations for Nephrosialidosis

Expression for Nephrosialidosis

Search GEO for disease gene expression data for Nephrosialidosis.

Pathways for Nephrosialidosis

GO Terms for Nephrosialidosis

Sources for Nephrosialidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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