MCID: SNT001
MIFTS: 8

Santos Mateus Leal Syndrome

Categories: Ear diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Santos Mateus Leal Syndrome

MalaCards integrated aliases for Santos Mateus Leal Syndrome:

Name: Santos Mateus Leal Syndrome 52 71
Hirschsprung Disease Associated with Polydactyly, Unilateral Renal Agenesis, Hypertelorism, and Congenital Deafness 52
Hirschsprung Disease, Deafness and Polydactyly 52

Classifications:



External Ids:

UMLS 71 C2931452

Summaries for Santos Mateus Leal Syndrome

MalaCards based summary : Santos Mateus Leal Syndrome, also known as hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness, is related to hirschsprung disease with polydactyly, renal agenesis, and deafness and hirschsprung disease 1.

Related Diseases for Santos Mateus Leal Syndrome

Diseases related to Santos Mateus Leal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hirschsprung disease with polydactyly, renal agenesis, and deafness 11.9
2 hirschsprung disease 1 10.5
3 hypertelorism 10.5
4 renal hypodysplasia/aplasia 1 10.5
5 branchiootic syndrome 1 10.5
6 polydactyly 10.5

Graphical network of the top 20 diseases related to Santos Mateus Leal Syndrome:



Diseases related to Santos Mateus Leal Syndrome

Symptoms & Phenotypes for Santos Mateus Leal Syndrome

Drugs & Therapeutics for Santos Mateus Leal Syndrome

Search Clinical Trials , NIH Clinical Center for Santos Mateus Leal Syndrome

Genetic Tests for Santos Mateus Leal Syndrome

Anatomical Context for Santos Mateus Leal Syndrome

Publications for Santos Mateus Leal Syndrome

Articles related to Santos Mateus Leal Syndrome:

# Title Authors PMID Year
1
Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. 61
3351909 1988

Variations for Santos Mateus Leal Syndrome

Expression for Santos Mateus Leal Syndrome

Search GEO for disease gene expression data for Santos Mateus Leal Syndrome.

Pathways for Santos Mateus Leal Syndrome

GO Terms for Santos Mateus Leal Syndrome

Sources for Santos Mateus Leal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....