MCID: PFF002
MIFTS: 8

Pfeiffer Kapferer Syndrome

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

Aliases & Classifications for Pfeiffer Kapferer Syndrome

MalaCards integrated aliases for Pfeiffer Kapferer Syndrome:

Name: Pfeiffer Kapferer Syndrome 53 72
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 72 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 and branchiootic syndrome 1.

Related Diseases for Pfeiffer Kapferer Syndrome

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

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 11.7
2 branchiootic syndrome 1 10.5
3 hypospadias 10.5
4 synostosis 10.5
5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.5

Graphical network of the top 20 diseases related to Pfeiffer Kapferer Syndrome:



Diseases related to Pfeiffer Kapferer Syndrome

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

Articles related to Pfeiffer Kapferer Syndrome:

(showing 1, show less)
# Title Authors PMID Year
1
Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none? 38
8897043 1996

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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