PAFC
MCID: PRR015
MIFTS: 14

Preauricular Fistulae, Congenital (PAFC)

Categories: Ear diseases

Aliases & Classifications for Preauricular Fistulae, Congenital

MalaCards integrated aliases for Preauricular Fistulae, Congenital:

Name: Preauricular Fistulae, Congenital 57 13
Ear Pits 57
Pafc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
preauricular fistulae, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 128700
MedGen 42 C0546969

Summaries for Preauricular Fistulae, Congenital

MalaCards based summary : Preauricular Fistulae, Congenital, also known as ear pits, is related to ear pits, posterior helical and lowry-maclean syndrome. An important gene associated with Preauricular Fistulae, Congenital is PAFC (Preauricular Fistulae, Congenital). Related phenotype is preauricular pit.

Description from OMIM: 128700

Related Diseases for Preauricular Fistulae, Congenital

Diseases related to Preauricular Fistulae, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ear pits, posterior helical 12.3
2 lowry-maclean syndrome 10.9
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9

Symptoms & Phenotypes for Preauricular Fistulae, Congenital

Symptoms via clinical synopsis from OMIM:

57
Ears:
ear pits in upper anterior end of helix


Clinical features from OMIM:

128700

Human phenotypes related to Preauricular Fistulae, Congenital:

32
# Description HPO Frequency HPO Source Accession
1 preauricular pit 32 HP:0004467

Drugs & Therapeutics for Preauricular Fistulae, Congenital

Search Clinical Trials , NIH Clinical Center for Preauricular Fistulae, Congenital

Genetic Tests for Preauricular Fistulae, Congenital

Anatomical Context for Preauricular Fistulae, Congenital

Publications for Preauricular Fistulae, Congenital

Articles related to Preauricular Fistulae, Congenital:

# Title Authors Year
1
Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome. ( 11746041 )
2001
2
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). ( 9788564 )
1998
3
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. ( 263442 )
1978

Variations for Preauricular Fistulae, Congenital

Expression for Preauricular Fistulae, Congenital

Search GEO for disease gene expression data for Preauricular Fistulae, Congenital.

Pathways for Preauricular Fistulae, Congenital

GO Terms for Preauricular Fistulae, Congenital

Sources for Preauricular Fistulae, Congenital

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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