PAFC
MCID: PRR015
MIFTS: 17

Preauricular Fistulae, Congenital (PAFC)

Categories: Ear diseases

Aliases & Classifications for Preauricular Fistulae, Congenital

MalaCards integrated aliases for Preauricular Fistulae, Congenital:

Name: Preauricular Fistulae, Congenital 58 13
Ear Pits 58
Pafc 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
preauricular fistulae, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 128700
MedGen 43 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). Affiliated tissues include skin, and 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 12.5
2 lowry-maclean syndrome 11.0
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 beckwith-wiedemann syndrome 9.9
5 skin tag 9.9

Graphical network of the top 20 diseases related to Preauricular Fistulae, Congenital:



Diseases related to Preauricular Fistulae, Congenital

Symptoms & Phenotypes for Preauricular Fistulae, Congenital

Human phenotypes related to Preauricular Fistulae, Congenital:

33
# Description HPO Frequency HPO Source Accession
1 preauricular pit 33 HP:0004467

Symptoms via clinical synopsis from OMIM:

58
Ears:
ear pits in upper anterior end of helix

Clinical features from OMIM:

128700

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

MalaCards organs/tissues related to Preauricular Fistulae, Congenital:

42
Skin

Publications for Preauricular Fistulae, Congenital

Articles related to Preauricular Fistulae, Congenital:

# Title Authors Year
1
Preauricular skin tags and ear pits are associated with permanent hearing impairment in newborns. ( 18829787 )
2008
2
Familial posterior helical ear pits. ( 17975802 )
2007
3
Pancreatic cystic dysplasia (dysgenesis) presenting as a surgical pathology specimen in a patient with multiple malformations and familial ear pits. ( 12490984 )
2002
4
Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome. ( 11746041 )
2001
5
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
6
Familial posterior helical ear pits. ( 1605266 )
1992
7
Familial posterior helical ear pits and Wiedemann-Beckwith syndrome. ( 1897573 )
1991
8
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. ( 263442 )
1978
9
Hereditary deafness in family with ear-pits (fistula auris congenita). ( 13269867 )
1955

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 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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