Aliases & Classifications for Earlobe Crease

MalaCards integrated aliases for Earlobe Crease:

Name: Earlobe Crease 57 6

Characteristics:

OMIM®:

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


HPO:

31
earlobe crease:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 128950
MedGen 41 C1851897
SNOMED-CT via HPO 68 263681008

Summaries for Earlobe Crease

MalaCards based summary : Earlobe Crease is related to speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease and lipoprotein quantitative trait locus. An important gene associated with Earlobe Crease is FOXP1 (Forkhead Box P1). Affiliated tissues include heart, endothelial and brain, and related phenotypes are anterior creases of earlobe and diagonal earlobe crease

More information from OMIM: 128950

Related Diseases for Earlobe Crease

Graphical network of the top 20 diseases related to Earlobe Crease:



Diseases related to Earlobe Crease

Symptoms & Phenotypes for Earlobe Crease

Human phenotypes related to Earlobe Crease:

31
# Description HPO Frequency HPO Source Accession
1 anterior creases of earlobe 31 HP:0009908
2 diagonal earlobe crease 31 HP:0031511

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Ears:
diagonal earlobe crease

Misc:
? indication of increased risk of coronary heart disease

Clinical features from OMIM®:

128950 (Updated 05-Apr-2021)

Drugs & Therapeutics for Earlobe Crease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Earlobe Crease as Risk Factors of Acute Myocardial Infarction in Chinese Population Unknown status NCT02637661
2 Earlobe Creases Predict Prognosis in Chinese Patients With Acute Myocardial Infarction Unknown status NCT02618681

Search NIH Clinical Center for Earlobe Crease

Genetic Tests for Earlobe Crease

Anatomical Context for Earlobe Crease

MalaCards organs/tissues related to Earlobe Crease:

40
Heart, Endothelial, Brain, Liver

Publications for Earlobe Crease

Articles related to Earlobe Crease:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Earlobe creases in a cohort of elderly veterans. 57
6827013 1983
2
Letter: Diagonal ear-lobe crease in coronary heart disease. 57
1138191 1975
3
Diagonal ear-lobe crease: prevalence and implications as a coronary risk factor. 57
4812503 1974
4
Aural sign of coronary-artery disease. 57
4718047 1973
5
The Relationship Between Earlobe Creases and the Presence, Extent, and Severity of Coronary Artery Atherosclerosis: A Regional Population-Based Autopsy Study. 61
33491952 2021
6
The Medici earlobe crease. 61
33012665 2021
7
Earlobe crease (Frank's sign) and coronary heart disease. 61
32289172 2020
8
Prevalence and clinical characteristics of earlobe crease in systemic sclerosis: Possible association with vascular dysfunction. 61
32424835 2020
9
Bilateral Earlobe Creases and Subsequent Malignant Cerebral Infarction: A Patient With Diffuse Endothelial Dysfunction. 61
32850206 2020
10
Morphological overview of cardiovascular comorbidities in chronic obstructive pulmonary disease: Frank's sign. 61
32061412 2020
11
The Association between Earlobe Creases and Cardiovascular Events in Japanese Hemodialysis Patients: A Prospective Cohort Study. 61
31839659 2020
12
Diagonal earlobe crease (Frank's sign) and increased risk of cerebrovascular diseases: review of the literature and implications for clinical practice. 61
31641899 2020
13
Presence of ear lobe crease may predict intermediate and high-risk patients with acute non-ST elevation acute coronary syndrome. 61
33123322 2020
14
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children. 61
31888681 2019
15
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature. 61
31602190 2019
16
On the association between earlobe crease and the carotid intima-media thickness: A population-based study. 61
31049449 2019
17
Relationship between the earlobe crease and brain white matter abnormalities in apparently healthy subjects 61
30889943 2019
18
Diagonal Earlobe Crease, a Marker of Coronary Artery Disease: A Case Report on Frank's Sign. 61
31106102 2019
19
Association of calcified carotid artery plaque in panoramic images and diagonal earlobe crease. 61
30059235 2019
20
The association between earlobe crease (Frank's sign) and cognitive performance is related to age. Results from the Atahualpa Project. 61
30179743 2018
21
Frank's sign: diagonal earlobe crease. 61
30020433 2018
22
Estimating Life Expectancy From Chinese Medicine Could Improve End-of-Life Care in Terminally Ill Cancer Patients. 61
30113958 2018
23
Bilateral Earlobe Crease as a Marker of Premature Coronary Artery Disease. 61
30027008 2018
24
Diagonal Earlobe Crease Revealing Intracranial Atherosclerosis. 61
29725179 2018
25
The Association between Earlobe Crease (Frank's Sign) and Abnormal Ankle-Brachial Index Determination Is Related to Age: A Population-Based Study. 61
30245883 2018
26
Alcohol consumption, smoking and development of visible age-related signs: a prospective cohort study. 61
29114032 2017
27
Diagonal Earlobe Crease (Frank's Sign): A Predictor of Cerebral Vascular Events. 61
28460854 2017
28
Diagonal Earlobe Crease is a Visible Sign for Cerebral Small Vessel Disease and Amyloid-β. 61
29042572 2017
29
Limited Diagnostic Potential of Diagonal Earlobe Crease. 61
28946988 2017
30
Prevalence of Earlobe Creases and Their Association With History of Cardiovascular Disease in Patients Undergoing Hemodialysis: A Cross-Sectional Study. 61
28880437 2017
31
Are you a rich guy with a diagonal earlobe crease? 61
28817545 2017
32
Relation of the Bilateral Earlobe Crease to Endothelial Dysfunction. 61
28438303 2017
33
Palaeopathology of the earlobe crease (Frank's sign): New insights from Renaissance art. 61
28284502 2017
34
Frank's sign - A dermatological link to coronary artery disease? 61
28733570 2017
35
Earlobe Crease in Patient With Chest Pain. 61
28442093 2017
36
Diagonal Earlobe Crease as a Significant Marker for Coronary Artery Disease: A Case-control Study. 61
28331775 2017
37
Diagonal earlobe crease associated with increased epicardial adipose tissue and carotid intima media thickness in subjects free of clinical cardiovascular disease. 61
27665328 2016
38
Development of an earlobe crease identification system to support diagnosis of arteriosclerosis. 61
28268802 2016
39
The association of circulating inflammatory and oxidative stress biomarker levels with diagonal earlobe crease in patients with atherosclerotic diseases. 61
26162942 2016
40
Did Dumbo suffer a heart attack? independent association between earlobe crease and cardiovascular disease. 61
26790748 2016
41
Visible aging signs as risk markers for ischemic heart disease: Epidemiology, pathogenesis and clinical implications. 61
26590331 2016
42
[Earlobe crease and cholesterol emboli]. 61
26045287 2015
43
Earlobe crease shapes and cardiovascular events. 61
25983126 2015
44
Incremental value of diagonal earlobe crease to the Diamond-Forrester classification in estimating the probability of significant coronary artery disease determined by computed tomographic angiography. 61
25288500 2014
45
Diagonal earlobe crease and coronary artery disease in a Chinese population. 61
24708687 2014
46
Earlobe crease may provide predictive information on asymptomatic peripheral arterial disease in patients clinically free of atherosclerotic vascular disease. 61
23449604 2014
47
Visible age-related signs and risk of ischemic heart disease in the general population: a prospective cohort study. 61
24334176 2014
48
Association between diagonal earlobe crease and cardio-ankle vascular index in asymptomatic hypertensive patients. 61
23941731 2013
49
Association Between Earlobe Crease and the Metabolic Syndrome in a Cross-sectional Study. 61
22977737 2012
50
[About the article: diagonal earlobe crease, clinical curiosity or ischemic cardiopathy marker?]. 61
22069855 2011

Variations for Earlobe Crease

ClinVar genetic disease variations for Earlobe Crease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXP1 NM_032682.6(FOXP1):c.1396C>G (p.Pro466Ala) SNV Likely pathogenic 374144 rs1057518926 GRCh37: 3:71026826-71026826
GRCh38: 3:70977675-70977675
2 SCN1A NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) SNV Uncertain significance 68499 rs121917920 GRCh37: 2:166904241-166904241
GRCh38: 2:166047731-166047731

Expression for Earlobe Crease

Search GEO for disease gene expression data for Earlobe Crease.

Pathways for Earlobe Crease

GO Terms for Earlobe Crease

Sources for Earlobe Crease

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
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