MCID: PFF003
MIFTS: 6

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 53 73
Short Stature Mental Retardation Type I Preaxial Polydactyly with Colobomatous Abnormalities 53

Classifications:



External Ids:

UMLS 73 C2931655

Summaries for Pfeiffer Mayer Syndrome

NIH Rare Diseases : 53 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.

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
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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