MCID: PFF003
MIFTS: 6

Pfeiffer Mayer Syndrome

Categories: Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Pfeiffer Mayer Syndrome

MalaCards integrated aliases for Pfeiffer Mayer Syndrome:

Name: Pfeiffer Mayer Syndrome 49 69
Short Stature Mental Retardation Type I Preaxial Polydactyly with Colobomatous Abnormalities 49

Classifications:



External Ids:

UMLS 69 C2931655

Summaries for Pfeiffer Mayer Syndrome

NIH Rare Diseases : 49 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:

# Related Disease Score Top Affiliating Genes
1 preaxial polydactyly-colobomata-intellectual disability syndrome 11.3

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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