MCID: NLP003
MIFTS: 17

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 57 59
Salcedo Syndrome 59 73
Glomerular Basement Membrane Disease, Nail-Patella Syndrome Type 57

Characteristics:

Orphanet epidemiological data:

59
nail-patella-like renal disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
nail-patella-like renal disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 256020
Orphanet 59 ORPHA2613
UMLS via Orphanet 74 C0403548
MedGen 42 C0403548
UMLS 73 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 11.7

Symptoms & Phenotypes for Nail-Patella-Like Renal Disease

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 renal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000083
4 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
5 glomerulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100820
6 microscopic hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002907
7 nephropathy 32 HP:0000112
8 abnormality of the skeletal system 32 HP:0000924

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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