MCID: PFF003
MIFTS: 5

Pfeiffer Mayer Syndrome

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Pfeiffer Mayer Syndrome

MalaCards integrated aliases for Pfeiffer Mayer Syndrome:

Name: Pfeiffer Mayer Syndrome 50 69
Short Stature Mental Retardation Type I Preaxial Polydactyly with Colobomatous Abnormalities 50

Classifications:



Summaries for Pfeiffer Mayer Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2921disease definitionpreaxial polydactyly-colobomata-intellectual disabilitysyndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. it has been described in one pair of sibs (brother and sister). the mode of transmission is thought to be autosomal recessive.visit the orphanet disease page for more resources. last updated: 6/25/2006

MalaCards based summary : Pfeiffer Mayer Syndrome, also known as short stature mental retardation type i preaxial polydactyly with colobomatous abnormalities, is related to preaxial polydactyly-colobomata-intellectual disability syndrome.

Related Diseases for Pfeiffer Mayer Syndrome

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

id Related Disease Score Top Affiliating Genes
1 preaxial polydactyly-colobomata-intellectual disability syndrome 11.0

Symptoms & Phenotypes for Pfeiffer Mayer Syndrome

Drugs & Therapeutics for Pfeiffer Mayer Syndrome

Search Clinical Trials , NIH Clinical Center for Pfeiffer Mayer Syndrome

Genetic Tests for Pfeiffer Mayer Syndrome

Anatomical Context for Pfeiffer Mayer Syndrome

Publications for Pfeiffer Mayer Syndrome

Variations for Pfeiffer Mayer Syndrome

Expression for Pfeiffer Mayer Syndrome

Search GEO for disease gene expression data for Pfeiffer Mayer Syndrome.

Pathways for Pfeiffer Mayer Syndrome

GO Terms for Pfeiffer Mayer Syndrome

Sources for Pfeiffer Mayer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....