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 54 74
Sensorineural Deafness, Hypospadias, and Synostosis of Metacarpals and Metatarsals 4 and 5 54
Short Stature, Mental Retardation and Multiple Dysmorphisms 54

Classifications:



External Ids:

UMLS 74 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 hypospadias.

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 11.5
2 hypospadias 10.5
3 synostosis 10.5

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:

# Title Authors Year
1
Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5: a previously apparently undescribed MCA/MR syndrome. ( 3223498 )
1988

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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