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 52 71
Sensorineural Deafness, Hypospadias, and Synostosis of Metacarpals and Metatarsals 4 and 5 52
Short Stature, Mental Retardation and Multiple Dysmorphisms 52

Classifications:



External Ids:

UMLS 71 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? 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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