PAFC
MCID: PRR015
MIFTS: 19

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 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
preauricular fistulae, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 128700
MedGen 41 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 branchiootic syndrome 1. An important gene associated with Preauricular Fistulae, Congenital is PAFC (Preauricular Fistulae, Congenital). Affiliated tissues include breast, and related phenotype is preauricular pit.

More information 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 ear pits, posterior helical 11.4
2 branchiootic syndrome 1 10.2
3 branchiootorenal syndrome 1 10.1
4 beckwith-wiedemann syndrome 10.1
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
6 leukemia, acute myeloid 9.9
7 rapidly involuting congenital hemangioma 9.9
8 cleft palate, isolated 9.9
9 macroglossia 9.9
10 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
11 fraser syndrome 1 9.9
12 brachydactyly 9.9
13 omphalocele 9.9
14 osteopetrosis 9.9
15 cystadenoma 9.9
16 renal dysplasia 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:

31
# Description HPO Frequency HPO Source Accession
1 preauricular pit 31 HP:0004467

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Ears:
ear pits in upper anterior end of helix

Clinical features from OMIM®:

128700 (Updated 05-Apr-2021)

Drugs & Therapeutics for Preauricular Fistulae, Congenital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Detecting Circulating Emboli in Patients With Acute Venous Thromboembolism Using in Vivo Photoacoustic Flow Cytometry (PAFC) Withdrawn NCT02735759

Search 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:

40
Breast

Publications for Preauricular Fistulae, Congenital

Articles related to Preauricular Fistulae, Congenital:

(show top 50) (show all 82)
# Title Authors PMID Year
1
A locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3. 57
12624728 2003
2
Preauricular pits in Hungary: epidemiologic and clinical observations. 57
7166595 1982
3
Familial transmission of preauricular fistula in a seven generation Indian pedigree. 57
468234 1979
4
[Genetical research on congenital aural fistula]. 57
5799333 1969
5
Congenital Abnormalities in the African Newborn. 57
21032387 1961
6
Hereditary branchial defects in a Hampshire family. 57
13773423 1961
7
Lateral Cervical and Preauricular Sinuses: Their Transmission as Dominant Characters. 57
20789051 1961
8
Congenital sinuses of the external ear. 57
20999293 1946
9
Potential of coagulation to remove particle-associated and free-living antibiotic resistome from wastewater. 61
33153783 2021
10
Response of Novel Functionally-Graded Prepacked Aggregate Fibrous Concrete against Low Velocity Repeated Projectile Impacts. 61
33430466 2021
11
Effectiveness of early endoscopic ultrasound-guided drainage for postoperative fluid collection. 61
33507385 2021
12
Solution Structure, Dynamics, and New Antifungal Aspects of the Cysteine-Rich Miniprotein PAFC. 61
33504082 2021
13
Synthesis and evaluation of cationic flocculant P(DAC-PAPTAC-AM) for flocculation of coal chemical wastewater. 61
33183701 2021
14
Potential Role of Proteasome Accessory Factor-C in Resistance against Second Line Drugs in Mycobacteria. 61
33390674 2020
15
Comprehensive reutilization of iron in iron ore tailings: preparation and characterization of magnetic flocculants. 61
32577974 2020
16
The Penicillium chrysogenum Q176 Antimicrobial Protein PAFC Effectively Inhibits the Growth of the Opportunistic Human Pathogen Candida albicans. 61
32824977 2020
17
Ovarian Cancer Detection Using Photoacoustic Flow Cytometry. 61
32009643 2020
18
Remediation Technology and Typical Case Analysis of Informal Landfills in Rainy Areas of Southern China. 61
32024022 2020
19
[Effects of Different Coagulants on Co-manganese Oxides Filter Media for Removing Ammonium and Manganese from Surface Water in Summer and Autumn]. 61
31854600 2019
20
Bacteriophage-mediated identification of bacteria using photoacoustic flow cytometry. 61
31758676 2019
21
New Frontiers in Diagnosis and Therapy of Circulating Tumor Markers in Cerebrospinal Fluid In Vitro and In Vivo. 61
31581745 2019
22
[Self-reported prevalence of hypertension and associated factors in quilombola communities in the State of Rio Grande do Sul, Brazil]. 61
31508750 2019
23
Insight into removal of dissolved organic matter in post pharmaceutical wastewater by coagulation-UV/H2O2. 61
30528024 2019
24
The transcription of pafA, encoding the prokaryotic ubiquitin-like protein ligase, is regulated by PafBC. 61
30547686 2019
25
Noninvasive label-free detection of circulating white and red blood clots in deep vessels with a focused photoacoustic probe. 61
30460154 2018
26
Worse than cell lysis: The resilience of Oscillatoria sp. during sludge storage in drinking water treatment. 61
29909220 2018
27
Dynamic blood flow phantom with negative and positive photoacoustic contrasts. 61
30319897 2018
28
Characterization and coagulation-flocculation performance of a composite flocculant in high-turbidity drinking water treatment. 61
29783055 2018
29
mRNA Cap Methyltransferase, RNMT-RAM, Promotes RNA Pol II-Dependent Transcription. 61
29719263 2018
30
Behavior of Cylindrospermopsis raciborskii during coagulation and sludge storage - higher potential risk of toxin release than Microcystis aeruginosa? 61
29331810 2018
31
A comparison study of the start-up of a MnOx filter for catalytic oxidative removal of ammonium from groundwater and surface water. 61
29548404 2018
32
The PAF complex regulation of Prmt5 facilitates the progression and maintenance of MLL fusion leukemia. 61
28945229 2018
33
In vivo noninvasive analysis of graphene nanomaterial pharmacokinetics using photoacoustic flow cytometry. 61
28524252 2017
34
16S rRNA Gene Amplicon Sequencing Reveals Significant Changes in Microbial Compositions during Cyanobacteria-Laden Drinking Water Sludge Storage. 61
28994596 2017
35
Mycobacterium smegmatis PafBC is involved in regulation of DNA damage response. 61
29070902 2017
36
Using quartz sand to enhance the removal efficiency of M. aeruginosa by inorganic coagulant and achieve satisfactory settling efficiency. 61
29051599 2017
37
Plasma-initiated polymerization of chitosan-based CS-g-P(AM-DMDAAC) flocculant for the enhanced flocculation of low-algal-turbidity water. 61
28325320 2017
38
Super elongation complex promotes early HIV transcription and its function is modulated by P-TEFb. 61
28340332 2017
39
Characteristics of water obtained by dewatering cyanobacteria-containing sludge formed during drinking water treatment, including C-, N-disinfection byproduct formation. 61
28110142 2017
40
Facilitators and Repressors of Transcription-coupled DNA Repair in Saccharomyces cerevisiae. 61
27796045 2017
41
Systematic identification of Ctr9 regulome in ERα-positive breast cancer. 61
27829357 2016
42
Behaviors of Microcystis aeruginosa cells during floc storage in drinking water treatment process. 61
27713525 2016
43
Preclinical photoacoustic models: application for ultrasensitive single cell malaria diagnosis in large vein and artery. 61
27699126 2016
44
Cln 3-requiring 9 is a negative regulator of Th17 pathway-driven inflammation in anti-glomerular basement membrane glomerulonephritis. 61
27306982 2016
45
In vivo photoacoustic flow cytometry for early malaria diagnosis. 61
27078044 2016
46
Gene expression profiling of Ctr9-regulated transcriptome in ERα-positive breast cancer. 61
26981377 2016
47
Photoacoustic Flow Cytometry for Single Sickle Cell Detection In Vitro and In Vivo. 61
27699143 2016
48
Real-Time Label-Free Embolus Detection Using In Vivo Photoacoustic Flow Cytometry. 61
27227413 2016
49
Floc properties of polyaluminum ferric chloride in water treatment: The effect of Al/Fe molar ratio and basicity. 61
26232731 2015
50
Ctr9, a key subunit of PAFc, affects global estrogen signaling and drives ERα-positive breast tumorigenesis. 61
26494790 2015

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....