MCID: PFF002
MIFTS: 6

Pfeiffer Kapferer Syndrome

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

Aliases & Classifications for Pfeiffer Kapferer Syndrome

MalaCards integrated aliases for Pfeiffer Kapferer Syndrome:

Name: Pfeiffer Kapferer Syndrome 53 73
Sensorineural Deafness, Hypospadias, and Synostosis of Metacarpals and Metatarsals 4 and 5 53
Short Stature, Mental Retardation and Multiple Dysmorphisms 53

Classifications:



External Ids:

UMLS 73 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
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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