MCID: NLP003
MIFTS: 16

Nail-Patella-Like Renal Disease

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Nail-Patella-Like Renal Disease

MalaCards integrated aliases for Nail-Patella-Like Renal Disease:

Name: Nail-Patella-Like Renal Disease 58 60
Salcedo Syndrome 60 74
Glomerular Basement Membrane Disease, Nail-Patella Syndrome Type 58

Characteristics:

Orphanet epidemiological data:

60
nail-patella-like renal disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
nail-patella-like renal disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

OMIM 58 256020
UMLS via Orphanet 75 C0403548
Orphanet 60 ORPHA2613
MedGen 43 C0403548
UMLS 74 C0403548

Summaries for Nail-Patella-Like Renal Disease

MalaCards based summary : Nail-Patella-Like Renal Disease, also known as salcedo syndrome, is related to salcedo syndrome. An important gene associated with Nail-Patella-Like Renal Disease is LMX1B (LIM Homeobox Transcription Factor 1 Beta). Affiliated tissues include bone, and related phenotypes are hypertension and short stature

Description from OMIM: 256020

Related Diseases for Nail-Patella-Like Renal Disease

Diseases related to Nail-Patella-Like Renal Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 salcedo syndrome 11.8

Symptoms & Phenotypes for Nail-Patella-Like Renal Disease

Human phenotypes related to Nail-Patella-Like Renal Disease:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0000822
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 renal insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0000083
4 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
5 glomerulopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100820
6 microscopic hematuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002907
7 nephropathy 33 HP:0000112
8 abnormality of the skeletal system 33 HP:0000924

Symptoms via clinical synopsis from OMIM:

58
Lab:
proteinuria
renal biopsy em shows glomerular basement membrane changes like nail-patella syndrome

Nails:
normal nails

G U:
nephropathy
renal failure
glomerulodysplasia

Skel:
no bone disorder

Clinical features from OMIM:

256020

Drugs & Therapeutics for Nail-Patella-Like Renal Disease

Search Clinical Trials , NIH Clinical Center for Nail-Patella-Like Renal Disease

Genetic Tests for Nail-Patella-Like Renal Disease

Anatomical Context for Nail-Patella-Like Renal Disease

MalaCards organs/tissues related to Nail-Patella-Like Renal Disease:

42
Bone

Publications for Nail-Patella-Like Renal Disease

Variations for Nail-Patella-Like Renal Disease

Expression for Nail-Patella-Like Renal Disease

Search GEO for disease gene expression data for Nail-Patella-Like Renal Disease.

Pathways for Nail-Patella-Like Renal Disease

GO Terms for Nail-Patella-Like Renal Disease

Sources for Nail-Patella-Like Renal Disease

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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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