MCID: PLT011
MIFTS: 8

Pilotto Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pilotto Syndrome

MalaCards integrated aliases for Pilotto Syndrome:

Name: Pilotto Syndrome 52 71
Cleft Lip and Palate, Congenital Heart Disease, Scoliosis, Short Stature, and Mental Retardation 52

Classifications:



External Ids:

UMLS 71 C2931484

Summaries for Pilotto Syndrome

MalaCards based summary : Pilotto Syndrome, also known as cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation, is related to scoliosis and cleft lip. Affiliated tissues include heart.

Wikipedia : 74 Pilotto syndrome is a rare syndrome which affects the face, heart, and back. The syndrome can cause a... more...

Related Diseases for Pilotto Syndrome

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

# Related Disease Score Top Affiliating Genes
1 scoliosis 10.2
2 cleft lip 10.2
3 cleft lip/palate 10.2

Symptoms & Phenotypes for Pilotto Syndrome

Drugs & Therapeutics for Pilotto Syndrome

Search Clinical Trials , NIH Clinical Center for Pilotto Syndrome

Genetic Tests for Pilotto Syndrome

Anatomical Context for Pilotto Syndrome

MalaCards organs/tissues related to Pilotto Syndrome:

40
Heart

Publications for Pilotto Syndrome

Articles related to Pilotto Syndrome:

# Title Authors PMID Year
1
Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation: the Pilotto syndrome. 61
7139099 1982

Variations for Pilotto Syndrome

Expression for Pilotto Syndrome

Search GEO for disease gene expression data for Pilotto Syndrome.

Pathways for Pilotto Syndrome

GO Terms for Pilotto Syndrome

Sources for Pilotto 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
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