MCID: PFF002
MIFTS: 6

Pfeiffer Kapferer Syndrome

Categories: Rare diseases, Mental diseases, Ear diseases, Neuronal diseases

Aliases & Classifications for Pfeiffer Kapferer Syndrome

MalaCards integrated aliases for Pfeiffer Kapferer Syndrome:

Name: Pfeiffer Kapferer Syndrome 49 69
Sensorineural Deafness, Hypospadias, and Synostosis of Metacarpals and Metatarsals 4 and 5 49
Short Stature, Mental Retardation and Multiple Dysmorphisms 49

Classifications:



External Ids:

UMLS 69 C2931654

Summaries for Pfeiffer Kapferer Syndrome

MalaCards based summary : Pfeiffer Kapferer Syndrome, also known as sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5, is related to deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome.

Related Diseases for Pfeiffer Kapferer Syndrome

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

# Related Disease Score Top Affiliating Genes
1 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 11.3

Symptoms & Phenotypes for Pfeiffer Kapferer Syndrome

Drugs & Therapeutics for Pfeiffer Kapferer Syndrome

Search Clinical Trials , NIH Clinical Center for Pfeiffer Kapferer Syndrome

Genetic Tests for Pfeiffer Kapferer Syndrome

Anatomical Context for Pfeiffer Kapferer Syndrome

Publications for Pfeiffer Kapferer Syndrome

Variations for Pfeiffer Kapferer Syndrome

Expression for Pfeiffer Kapferer Syndrome

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

Pathways for Pfeiffer Kapferer Syndrome

GO Terms for Pfeiffer Kapferer Syndrome

Sources for Pfeiffer Kapferer 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
45 NCI
46 NCIt
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
Content
Loading form....