FANCE
MCID: FNC043
MIFTS: 62

Fanconi Anemia, Complementation Group E (FANCE)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group E

MalaCards integrated aliases for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 56 29 13 6 39 71
Fanconi Anemia Complementation Group E 12 73 15
Fance 56 12 73
Face 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fanconi anemia, complementation group e:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group E

UniProtKB/Swiss-Prot : 73 Fanconi anemia complementation group E: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

MalaCards based summary : Fanconi Anemia, Complementation Group E, also known as fanconi anemia complementation group e, is related to fanconi anemia, complementation group v and esophageal atresia, and has symptoms including anemic pallor An important gene associated with Fanconi Anemia, Complementation Group E is FANCE (FA Complementation Group E), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Ciclopirox and Montelukast have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotypes are intellectual disability and hearing impairment

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the FANCE gene on chromosome 6p22-p21.

OMIM : 56 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (600901)

Wikipedia : 74 Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE... more...

Related Diseases for Fanconi Anemia, Complementation Group E

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group E via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3094)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group v 31.4 FANCE FANCD2 FANCA
2 esophageal atresia 31.3 FANCE FANCD2 FANCC FANCA
3 fanconi anemia, complementation group u 31.1 FANCF FANCE FANCD2 FANCA
4 seckel syndrome 31.0 FANCE FANCD2 FANCA
5 fanconi anemia, complementation group j 30.9 FANCG FANCF FANCE FANCD2 FANCC FANCA
6 fanconi anemia, complementation group b 30.9 FANCG FANCF FANCE FANCD2 FANCC FANCA
7 xeroderma pigmentosum, variant type 30.9 FANCG FANCD2 FANCC FANCA
8 fanconi anemia, complementation group r 30.8 FANCG FANCF FANCE FANCD2 FANCA
9 fanconi anemia, complementation group t 30.8 FANCG FANCF FANCE FANCD2 FANCA
10 fanconi anemia, complementation group d2 30.6 FANCG FANCD2 FANCA
11 squamous cell carcinoma, head and neck 30.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
12 fanconi anemia, complementation group f 30.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
13 fanconi anemia, complementation group q 30.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
14 fanconi anemia, complementation group o 30.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
15 fanconi anemia, complementation group p 30.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
16 fanconi anemia, complementation group n 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
17 fanconi anemia, complementation group d1 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
18 congenital hypoplastic anemia 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
19 fanconi anemia, complementation group c 29.6 FANCF FANCD2 FANCC FANCA
20 aplastic anemia 29.4 FANCG FANCD2 FANCC FANCA
21 deficiency anemia 29.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
22 fanconi anemia, complementation group a 29.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
23 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.6
24 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.5
25 whistling face syndrome, recessive form 12.4
26 mental retardation, microcephaly, epilepsy, and coarse face 12.4
27 hemangiomas, cavernous, of face and supraumbilical midline raphe 12.3
28 cavernous hemangioma of face 12.3
29 cysts and fistulae of the face and oral cavity 12.2
30 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.2
31 arthrogryposis, distal, type 2a 12.1
32 frontonasal dysplasia 1 12.1
33 autosomal recessive whistling face syndrome 12.1
34 brachydactyly small stature face anomalies 12.1
35 coarse face hypotonia constipation 12.1
36 dysostosis with limb and face anomalies as a major feature 12.1
37 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 12.1
38 three m syndrome 1 12.0
39 digeorge syndrome 11.9
40 robinow syndrome 11.9
41 fountain syndrome 11.9
42 sonoda syndrome 11.9
43 prosopagnosia, hereditary 11.9
44 robinow syndrome, autosomal dominant 1 11.9
45 fanconi anemia, complementation group s 11.8
46 crisponi/cold-induced sweating syndrome 1 11.8
47 alpha thalassemia-x-linked intellectual disability syndrome 11.8
48 cold-induced sweating syndrome 11.8
49 illum syndrome 11.7
50 phace association 11.7

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group E:



Diseases related to Fanconi Anemia, Complementation Group E

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group E

Human phenotypes related to Fanconi Anemia, Complementation Group E:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hearing impairment 31 HP:0000365
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 cryptorchidism 31 HP:0000028
6 horseshoe kidney 31 HP:0000085
7 cafe-au-lait spot 31 HP:0000957
8 microcephaly 31 HP:0000252
9 anemia 31 HP:0001903
10 pancytopenia 31 HP:0001876
11 ectopic kidney 31 HP:0000086
12 strabismus 31 HP:0000486
13 abnormality of skin pigmentation 31 HP:0001000
14 thrombocytopenia 31 HP:0001873
15 microphthalmia 31 HP:0000568
16 hypergonadotropic hypogonadism 31 HP:0000815
17 neutropenia 31 HP:0001875
18 leukemia 31 HP:0001909
19 abnormal heart morphology 31 HP:0001627
20 bruising susceptibility 31 HP:0000978
21 short thumb 31 HP:0009778
22 complete duplication of thumb phalanx 31 HP:0009943
23 abnormality of cardiovascular system morphology 31 HP:0030680
24 renal agenesis 31 HP:0000104
25 absent radius 31 HP:0003974
26 small for gestational age 31 HP:0001518
27 absent thumb 31 HP:0009777
28 duplicated collecting system 31 HP:0000081
29 psychomotor retardation 31 HP:0025356
30 anemic pallor 31 HP:0001017
31 reticulocytopenia 31 HP:0001896
32 deficient excision of uv-induced pyrimidine dimers in dna 31 HP:0003213
33 prolonged g2 phase of cell cycle 31 HP:0003214
34 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

Neurologic Central Nervous System:
psychomotor retardation

Laboratory Abnormalities:
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle
multiple chromosomal breaks. chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Head And Neck Ears:
deafness
ear anomaly

Growth Weight:
low birth weight

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
Hematology:
anemia
pancytopenia
thrombocytopenia
neutropenia
leukemia
more
Endocrine Features:
hypergonadotropic hypogonadism

Skin Nails Hair Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

Cardiovascular Heart:
congenital heart defect

Skeletal Limbs:
radial aplasia

Growth Height:
small stature

Clinical features from OMIM:

600901

UMLS symptoms related to Fanconi Anemia, Complementation Group E:


anemic pallor

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 FANCA FANCC FANCD2 FANCE FANCF FANCG

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group E:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 FANCA FANCC FANCD2 FANCE FANCF FANCG
2 reproductive system MP:0005389 9.1 FANCA FANCC FANCD2 FANCE FANCF FANCG

Drugs & Therapeutics for Fanconi Anemia, Complementation Group E

Drugs for Fanconi Anemia, Complementation Group E (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1041)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
2
Montelukast Approved Phase 4 158966-92-8 5281040
3
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
4
Etomidate Approved Phase 4 33125-97-2 36339 667484
5
Rilpivirine Approved Phase 4 500287-72-9
6
Perphenazine Approved Phase 4 58-39-9 4748
7
Amitriptyline Approved Phase 4 50-48-6 2160
8
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
9
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
10
Cobicistat Approved Phase 4 1004316-88-4
11
Adapalene Approved Phase 4 106685-40-9 60164
12
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
13
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
14
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
15
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
16
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
17
Methadone Approved Phase 4 76-99-3 4095
18
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
19
Infliximab Approved Phase 4 170277-31-3
20
Histamine Approved, Investigational Phase 4 51-45-6 774
21
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
22
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
23
Benzyl alcohol Approved Phase 4 100-51-6 244
24
Desoximetasone Approved Phase 4 382-67-2 5311067
25
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
26
Polyestradiol phosphate Approved Phase 4 28014-46-2
27
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
28
Polidocanol Approved Phase 4 9002-92-0
29
Kinetin Approved Phase 4 525-79-1 3830
30
Caffeine Approved Phase 4 58-08-2 2519
31
Titanium dioxide Approved Phase 4 13463-67-7
32
Oxybenzone Approved, Investigational Phase 4 131-57-7 4632
33
Avobenzone Approved, Investigational Phase 4 70356-09-1
34
Cetirizine Approved Phase 4 83881-51-0 2678
35
Desloratadine Approved, Investigational Phase 4 100643-71-8 124087
36
Sage Approved Phase 4
37
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
38
Metformin Approved Phase 4 657-24-9 14219 4091
39
Cycloserine Approved Phase 4 68-41-7 401 6234
40
Budesonide Approved Phase 4 51333-22-3 63006 5281004
41
Insulin glargine Approved Phase 4 160337-95-1
42
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
43
Vortioxetine Approved, Investigational Phase 4 508233-74-7 9966051
44
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
45
Esketamine Approved, Investigational Phase 4 33643-46-8
46
Nelfinavir Approved Phase 4 159989-64-7 64143
47
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
48
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
49
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
50
Travoprost Approved Phase 4 157283-68-6 5282226

Interventional clinical trials:

(show top 50) (show all 5667)
# Name Status NCT ID Phase Drugs
1 Intense Pulsed Light as an Adjunctive to Bromonidine for the Treatment of Rosacea- a Prospective Study Unknown status NCT03053700 Phase 4 Bromonide 0.33% gel
2 Efficacy of KAM2904 Face Cream and KAM3008 Body Lotion Treatment in Children With Atopic Dermatitis (AD) Unknown status NCT01781663 Phase 4
3 A Clinical Study Comparing Restylane® Silk and Belotero Balance® for the Treatment of Superficial, Vertical Perioral Lines Unknown status NCT02818556 Phase 4 Restalyne Silk;Belotero Balance
4 A Random, Double-blind, Parallel, Placebo-controlled, Multi-center Study of Shuxuetong for Prevention of Recurrence in Acute Cerebrovascular Events With Embolism Unknown status NCT03090113 Phase 4 Shuxuetong Injection;Placebo Injection
5 Rotation or Change of Biotherapy After First Anti-TNF Treatment Failure for Rheumatoid Arthritis Unknown status NCT01000441 Phase 4 infliximab, etanercept, adalimumab;abatacept, rituximab or tocilizumab
6 Prospective, Randomized, Controlled, Multicenter, Two-armed, Study Comparing Daylight Photodynamic Therapy Using MAL With Cryosurgery for the Treatment and Prophylaxis of Actinic Keratoses in Photodamaged Skin of the Face Unknown status NCT02736760 Phase 4 Daylight photodynamic therapy using Methylaminolevulinate (MAL)
7 Effectiveness of an E-mail Tracking Intervention Among the Continued Abstinence of Tobacco Consumption (TABATIC). A Randomized Controlled Multicentric Trial Unknown status NCT01494246 Phase 4
8 Phase Iv Study On The Safety And Efficacy Of The Full Face Applications Of Variable Doses Of 125 To 250 Units Of A Commercial Botulinum Toxin Type A (Dysport®) Unknown status NCT01032954 Phase 4 Botulinum toxin
9 Double Blind Randomized Study of 2% Miconazol Versus 4% Hydroquinone in the Treatment for Melasma. Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
10 An Evaluation of Innovative Methods for Integrating Buprenorphine Opioid Treatment in HIV Primary Care Settings Unknown status NCT00124358 Phase 4 Buprenorphine
11 A Double Blind Randomised Placebo Controlled Trial of Montelukast in the Treatment of Acute Persistent Cough in Young People and Adults in Primary Care Unknown status NCT01279668 Phase 4 Montelukast;Placebo
12 Non-Invasive Positive Pressure Mask Ventilation vs Extrathoracic Biphasic Cuirass Ventilation in Patients With Acute Respiratory Failure: A Randomized Prospective Study. Unknown status NCT00331656 Phase 4
13 A Novel Method of Preoxygenation Using Partial Rebreathing Via a Coaxial Mapleson D Breathing System (Bain Circuit) Unknown status NCT00958178 Phase 4 Oxygen
14 Optimal Duration of Antimicrobial Susceptibility Test (AST) Guided Rescue Therapy for Helicobacter Pylori Infection Unknown status NCT02934048 Phase 4
15 A Pilot Study to Evaluate the Efficacy of Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Alone Versus Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Plus Benzoyl Peroxide 6% Foaming Cloths in the Treatment of Facial Acne Vulgaris Unknown status NCT01422785 Phase 4 clindamycin phosphate 1.2%/tretinoin 0.025% gel alone;clindamycin phosphate 1.2%/tretinoin 0.025% gel plus benzoyl peroxide 6% foaming cloths
16 Role of Progesterone in Hypoactive Sexual Desire Disorder in Menopausal Women Unknown status NCT02968342 Phase 4
17 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
18 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
19 A Double-blind, Randomized, Placebo-controlled, 2-way Crossover Study to Assess the Potential Effect of Topically Applied Imiquimod Cream on Atrial Ectopy in Patients With Actinic Keratosis Unknown status NCT01413763 Phase 4 Imiquimod cream 3.75%;Placebo cream
20 Evaluation of Effectiveness and Safety of Oral Vancomycin in Treatment of Primary Sclerosing Cholangitis. Unknown status NCT02605213 Phase 4 Vancomycin;Placebo
21 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
22 Inspiratory Muscle Training for Dyspneic Patients With COPD-HF Overlap: a Multicenter, Randomized Controlled Trial Unknown status NCT02579200 Phase 4
23 DOUBLE BLIND, PLACEBO CONTROLLED, RANDOMIZED CLINICAL TRIAL OF THE SAFETY AND EFFICACY OF BOTULINUM TOXIN TYPE A (BOTOX) IN BRUXISM Unknown status NCT00908050 Phase 4 Botulinum toxin type A
24 Hyperventilation and ECT Seizure Duration: Effects on Cerebral Oxygen Saturation, and Therapeutic Outcome With Comparisons Between Etomidate and Ketamine in Patients With Major Depressive Disorder Unknown status NCT02924090 Phase 4 Etomidate;Ketamine
25 Double-blind Placebo Controlled Trial of VSL#3 in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
26 Pilot Study: The Effect of Rozerem on Sleep Disturbance After Traumatic Brain Injury Unknown status NCT01207050 Phase 4 Ramelteon
27 An Investigator-Initiated Study to Assess the Safety and Efficacy of Imiquimod 3.75% Cream When Used After Cryotherapy in the Treatment of Hypertrophic Actinic Keratoses (AK) on Dorsal Hands and Forearms Unknown status NCT01229319 Phase 4 Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm;Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm
28 A Double Blind Randomized Placebo Controlled Study, for Smoking Cessation in Preadmission Clinic. the Use of a Teachable Moment Unknown status NCT00937508 Phase 4 varenicline;placebo
29 Phase 4, Single Centre, Single Blinded,Prospective Randomised Cross Over Comparison on the Physiological Response of Post Extubation Intensive Care Patients to Non-invasive Ventilation Using Either Air O2 or Heliox21 Unknown status NCT01498432 Phase 4 Heliox21;Air O2
30 A Controlled Study of the Efficacy of Botulinum Toxin A (Botox) for the Treatment of Major Depressive Disorder (MDD) Unknown status NCT01556971 Phase 4 Botox;Saline Solution
31 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
32 Clinical, Laboratorial and Quality of Life Trial to Evaluate the Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea. Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
33 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease Unknown status NCT01116063 Phase 4 Inhaled iloprost
34 Non-surgical Treatment of Carpal Tunnel Syndrome: Night Splint Versus Local Corticosteroid Infiltration: Clinical Randomized Trial Unknown status NCT03196817 Phase 4 betamethasone dipropionate, betamethasone disodium phosphate and lidocaine 2%
35 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
36 Intron-A/Aldara Combination Therapy for BCC Excluding the Face and Scalp Completed NCT00581425 Phase 4
37 An Investigator-Blind, Phase 4 Study Assessing the Facial Irritation Potential of Two Acne Treatment Products Using a Split-Face Model Completed NCT00714714 Phase 4 Adapalene Gel;Tretinoin Gel
38 A Single-blind, Randomized, Comparative Split-face Study Evaluating the Tolerability of Clindamycin and Benzoyl Peroxide Gel to Benzoyl Peroxide/Adapalene Gel in the Treatment of Acne Vulgaris. Completed NCT00964223 Phase 4 Clindamycin and benzoyl peroxide gel (Duac® Topical Gel);benzoyl peroxide and adapalene gel (EPIDUO™ Gel)
39 A Single Blind, Placebo Controlled Trial to Evaluate Effects of a Study Medication, a Nu Skin Lightening Product With and Without Iontophoresis vs Tretinoin Cream vs Vehicle Control for Facial Hyperpigmentation Completed NCT01149876 Phase 4 Tretinoin cream 0.05
40 A Comparative Evaluation of the Performance and Fit of Pediatric Face Masks Completed NCT02224612 Phase 4
41 The Efficacy of Salicylic Acid Peels Combined With 4% Hydroquinone Cream Versus 4% Hydroquinone Cream Alone in the Treatment of Hispanic Women With Moderate to Severe Melasma Completed NCT00616239 Phase 4 20-30% Salicylic Acid peels to the right side of the face;20-30% Salicylic Acid peels to the left side of the face
42 Split-Face Tolerability Comparison Between MetroGel® (Metronidazole Gel) 1% vs Finacea® (Azelaic Acid) 15% in Subjects With Healthy Skin Completed NCT01139047 Phase 4 metronidazole 1% gel;azelaic acid 15% gel
43 Split-Face Tolerability Comparison Between MetroGel® (Metronidazole Gel) 1% Versus Finacea® (Azelaic Acid) Gel 15% in Subjects With Healthy Skin Completed NCT01139008 Phase 4 metronidazole 1% gel;azelaic acid 15% gel
44 A Multi-center, Non-comparative Study to Evaluate the Perception of Facial Expressions Following Correction of Wrinkles and Folds in the Lower Face Using Emervel Classic Lidocaine and Emervel Deep Lidocaine Completed NCT02573337 Phase 4
45 An Open-Label 18-Month Safety Study of Fluorouracil Cream 0.5% for the Treatment of Actinic Keratoses Completed NCT00377273 Phase 4 fluorouracil cream 0.5%
46 A Study Comparing Aczone® Plus Differin® Versus Duac® Plus Differin® in Patients With Severe Facial Acne Completed NCT01231334 Phase 4 Dapsone plus Adapalene;Clindamycin/benzoyl peroxide plus Adapalene
47 Effect of a Transcutaneous Electrical Nerve Stimulation (TENS) Device on Overall Facial Appearance Completed NCT01740440 Phase 4
48 An Investigator-Blind, Phase 4 Study Assessing Mitigation of Facial Irritation When Comparing the Use of Two Acne Treatment Products (Retin-A Micro® 0.1 % Pump and Aczone®) With One Treatment Product (Retin-A Micro® 0.1 % Pump) Using a Split-Face Model Completed NCT01313728 Phase 4 Dapsone plus Tretinoin Gel;Tretinoin Gel
49 Improving Health Through SkypeTM: Family-Based Intervention for Teens With Poorly Controlled Diabetes Completed NCT02274103 Phase 4
50 An Investigator-Blind, Phase 4 Study Assessing the Facial Irritation Potential of Two Acne Treatment Products (Retin-A Micro Gel, 0.04% Pump and Epiduo Gel) Using a Split-Face Model Completed NCT00952523 Phase 4 Tretinoin Facial Gel;Adapalene/Benzoyl Peroxide Facial Gel

Search NIH Clinical Center for Fanconi Anemia, Complementation Group E

Genetic Tests for Fanconi Anemia, Complementation Group E

Genetic tests related to Fanconi Anemia, Complementation Group E:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group E 29 FANCE

Anatomical Context for Fanconi Anemia, Complementation Group E

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group E:

40
Skin, Breast, Testes, Brain, Heart, Bone, Lung

Publications for Fanconi Anemia, Complementation Group E

Articles related to Fanconi Anemia, Complementation Group E:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Isolation of a cDNA representing the Fanconi anemia complementation group E gene. 61 56 6
11001585 2000
2
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. 61 56 6
10205272 1999
3
Evidence for at least eight Fanconi anemia genes. 56 6
9382107 1997
4
Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. 56 6
7662964 1995
5
Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. 61 56
9147877 1996
6
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
7
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
8
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
9
Fanconi Anemia 6
20301575 2002
10
Fanconi anaemia complementation groups in Germany and The Netherlands. European Fanconi Anaemia Research group. 56
8786063 1996
11
Complementation groups: one or more per gene? 56
7581439 1995
12
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
13
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. 61
31586946 2019
14
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018
15
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. 61
30306255 2018
16
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines. 61
29880898 2018
17
Case study: patient-derived clear cell adenocarcinoma xenograft model longitudinally predicts treatment response. 61
30202792 2018
18
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 61
28678401 2017
19
Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. 61
28878254 2017
20
Common Variable Immunodeficiency Caused by FANC Mutations. 61
28493158 2017
21
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2. 61
27986592 2017
22
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. 61
27986371 2017
23
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 61
27165003 2016
24
Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male Mice. 61
27486799 2016
25
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
26
Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model. 61
26939056 2016
27
SSIEM 2015 Annual Symposium : Lyon, Fance, August 2015. 61
26231229 2015
28
Analysis of a FANCE Splice Isoform in Regard to DNA Repair. 61
26277624 2015
29
Modularized functions of the Fanconi anemia core complex. 61
24910428 2014
30
The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway. 61
24451376 2014
31
Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population. 61
23504502 2013
32
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 61
22778927 2012
33
Mutations in Fanconi anemia genes and the risk of esophageal cancer. 61
21279724 2011
34
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 61
19861535 2009
35
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 61
19405097 2009
36
A possible approach for stem cell gene therapy of Fanconi anemia. 61
19275569 2009
37
FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex. 61
18995830 2008
38
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 61
17924555 2008
39
Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway. 61
17296736 2007
40
Insights into Fanconi Anaemia from the structure of human FANCE. 61
17308347 2007
41
Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. 61
17409780 2007
42
Variation in cisplatinum sensitivity is not associated with Fanconi Anemia/BRCA pathway inactivation in head and neck squamous cell carcinoma cell lines. 61
16466850 2007
43
Evidence for subcomplexes in the Fanconi anemia pathway. 61
16720839 2006
44
The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC. 61
16513431 2006
45
The Fanconi anemia gene network is conserved from zebrafish to human. 61
16515849 2006
46
FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway. 61
16127171 2005
47
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 61
16116424 2005
48
New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. FAAP95 replaces BRCA2 as the true FANCB protein. 61
15611632 2005
49
The Fanconi anemia core complex associates with chromatin during S phase. 61
15256425 2005
50
The Fanconi anemia gene product FANCF is a flexible adaptor protein. 61
15262960 2004

Variations for Fanconi Anemia, Complementation Group E

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group E:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCE NM_021922.2(FANCE):c.355C>T (p.Gln119Ter)SNV Pathogenic 8709 rs121434505 6:35423630-35423630 6:35455853-35455853
2 FANCE NM_021922.2(FANCE):c.421C>T (p.Arg141Ter)SNV Pathogenic 8710 rs121434506 6:35423696-35423696 6:35455919-35455919
3 FANCE NM_021922.2(FANCE):c.1114-8G>ASNV Pathogenic 8711 rs878854342 6:35427100-35427100 6:35459323-35459323
4 FANCE NM_021922.3(FANCE):c.929dup (p.Val311fs)duplication Pathogenic 655390 6:35425714-35425715 6:35457937-35457938
5 FANCE NM_021922.3(FANCE):c.248+2T>CSNV Likely pathogenic 802206 6:35420572-35420572 6:35452795-35452795
6 FANCE NM_021922.2(FANCE):c.598C>T (p.Arg200Cys)SNV Conflicting interpretations of pathogenicity 221623 rs763151358 6:35423873-35423873 6:35456096-35456096
7 FANCE NM_021922.2(FANCE):c.968A>G (p.Gln323Arg)SNV Uncertain significance 639143 6:35425760-35425760 6:35457983-35457983
8 FANCE NM_021922.2(FANCE):c.1466A>T (p.Tyr489Phe)SNV Uncertain significance 660850 6:35430648-35430648 6:35462871-35462871
9 FANCE NM_021922.2(FANCE):c.970-6A>TSNV Uncertain significance 661462 6:35426068-35426068 6:35458291-35458291
10 FANCE NM_021922.2(FANCE):c.1610G>T (p.Ter537Leu)SNV Uncertain significance 539293 rs139547269 6:35434121-35434121 6:35466344-35466344
11 FANCE NM_021922.2(FANCE):c.169C>T (p.Pro57Ser)SNV Uncertain significance 577756 rs1561787173 6:35420491-35420491 6:35452714-35452714
12 FANCE NM_021922.2(FANCE):c.1509+3G>ASNV Uncertain significance 579158 rs773938335 6:35430694-35430694 6:35462917-35462917
13 FANCE NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp)SNV Uncertain significance 566449 rs775076977 6:35426215-35426215 6:35458438-35458438
14 FANCE NM_021922.2(FANCE):c.358A>G (p.Ile120Val)SNV Uncertain significance 581847 rs201961713 6:35423633-35423633 6:35455856-35455856
15 FANCE NM_021922.2(FANCE):c.746C>T (p.Ser249Phe)SNV Uncertain significance 582046 rs1036490024 6:35424021-35424021 6:35456244-35456244
16 FANCE NM_021922.2(FANCE):c.65T>C (p.Leu22Pro)SNV Uncertain significance 645170 6:35420387-35420387 6:35452610-35452610
17 FANCE NM_021922.2(FANCE):c.175G>T (p.Asp59Tyr)SNV Uncertain significance 642951 6:35420497-35420497 6:35452720-35452720
18 FANCE NM_021922.2(FANCE):c.356A>C (p.Gln119Pro)SNV Uncertain significance 664609 6:35423631-35423631 6:35455854-35455854
19 FANCE NM_021922.2(FANCE):c.656G>T (p.Arg219Ile)SNV Uncertain significance 652052 6:35423931-35423931 6:35456154-35456154
20 FANCE NM_021922.2(FANCE):c.851T>C (p.Ile284Thr)SNV Uncertain significance 665018 6:35424126-35424126 6:35456349-35456349
21 FANCE NM_021922.2(FANCE):c.229C>A (p.Pro77Thr)SNV Uncertain significance 134330 rs587778335 6:35420551-35420551 6:35452774-35452774
22 FANCE NM_021922.2(FANCE):c.52C>T (p.Pro18Ser)SNV Uncertain significance 134331 rs552241929 6:35420374-35420374 6:35452597-35452597
23 FANCE NM_021922.2(FANCE):c.929C>A (p.Pro310Gln)SNV Uncertain significance 134336 rs139600847 6:35425721-35425721 6:35457944-35457944
24 FANCE NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg)SNV Uncertain significance 134340 rs45524646 6:35426122-35426122 6:35458345-35458345
25 FANCE NM_021922.2(FANCE):c.1141C>T (p.Arg381Cys)SNV Uncertain significance 134342 rs371020401 6:35427135-35427135 6:35459358-35459358
26 FANCE NM_021922.2(FANCE):c.1057C>G (p.Pro353Ala)SNV Uncertain significance 241391 rs878855070 6:35426161-35426161 6:35458384-35458384
27 FANCE NM_021922.2(FANCE):c.1459A>G (p.Met487Val)SNV Uncertain significance 241392 rs373735272 6:35430641-35430641 6:35462864-35462864
28 FANCE NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg)SNV Uncertain significance 356453 rs200083899 6:35430606-35430606 6:35462829-35462829
29 FANCE NM_021922.2(FANCE):c.4G>C (p.Ala2Pro)SNV Uncertain significance 356441 rs886061327 6:35420326-35420326 6:35452549-35452549
30 FANCE NM_021922.2(FANCE):c.480C>A (p.Cys160Ter)SNV Uncertain significance 356445 rs45509302 6:35423755-35423755 6:35455978-35455978
31 FANCE NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp)SNV Uncertain significance 356451 rs886061331 6:35427511-35427511 6:35459734-35459734
32 FANCE NM_021922.2(FANCE):c.214C>T (p.Pro72Ser)SNV Uncertain significance 408157 rs890865684 6:35420536-35420536 6:35452759-35452759
33 FANCE NM_021922.2(FANCE):c.311C>G (p.Ala104Gly)SNV Uncertain significance 408153 rs773580818 6:35423586-35423586 6:35455809-35455809
34 FANCE NM_021922.2(FANCE):c.397C>T (p.Leu133Phe)SNV Uncertain significance 408156 rs759124595 6:35423672-35423672 6:35455895-35455895
35 FANCE NM_021922.2(FANCE):c.436G>T (p.Val146Leu)SNV Uncertain significance 408151 rs755204532 6:35423711-35423711 6:35455934-35455934
36 FANCE NM_021922.2(FANCE):c.812C>T (p.Ala271Val)SNV Uncertain significance 408155 rs1060501874 6:35424087-35424087 6:35456310-35456310
37 FANCE NM_021922.2(FANCE):c.1588G>A (p.Ala530Thr)SNV Uncertain significance 408159 rs377415237 6:35434099-35434099 6:35466322-35466322
38 FANCE NM_021922.2(FANCE):c.31G>A (p.Ala11Thr)SNV Uncertain significance 408158 rs753304968 6:35420353-35420353 6:35452576-35452576
39 FANCE NM_021922.2(FANCE):c.400C>T (p.Arg134Cys)SNV Uncertain significance 408154 rs181761362 6:35423675-35423675 6:35455898-35455898
40 FANCE NM_021922.2(FANCE):c.1606C>G (p.Pro536Ala)SNV Uncertain significance 408152 rs1060501873 6:35434117-35434117 6:35466340-35466340
41 FANCE NM_021922.2(FANCE):c.929C>G (p.Pro310Arg)SNV Uncertain significance 435149 rs139600847 6:35425721-35425721 6:35457944-35457944
42 FANCE NM_021922.2(FANCE):c.206G>A (p.Arg69Gln)SNV Uncertain significance 471924 rs758238449 6:35420528-35420528 6:35452751-35452751
43 FANCE NM_021922.2(FANCE):c.274C>T (p.Arg92Trp)SNV Uncertain significance 471926 rs375195621 6:35423549-35423549 6:35455772-35455772
44 FANCE NM_021922.2(FANCE):c.1591T>A (p.Leu531Met)SNV Uncertain significance 471923 rs147390386 6:35434102-35434102 6:35466325-35466325
45 FANCE NM_021922.2(FANCE):c.365A>T (p.Gln122Leu)SNV Uncertain significance 471928 rs1554121253 6:35423640-35423640 6:35455863-35455863
46 FANCE NM_021922.2(FANCE):c.592G>A (p.Gly198Arg)SNV Uncertain significance 471930 rs747727711 6:35423867-35423867 6:35456090-35456090
47 FANCE NM_021922.2(FANCE):c.856-3C>TSNV Uncertain significance 471932 rs749111562 6:35425330-35425330 6:35457553-35457553
48 FANCE NM_021922.2(FANCE):c.1309A>G (p.Met437Val)SNV Uncertain significance 471919 rs746770705 6:35427530-35427530 6:35459753-35459753
49 FANCE NM_021922.2(FANCE):c.1336T>C (p.Trp446Arg)SNV Uncertain significance 471921 rs1554122137 6:35428348-35428348 6:35460571-35460571
50 FANCE NM_021922.2(FANCE):c.298T>A (p.Ser100Thr)SNV Uncertain significance 471927 rs768911543 6:35423573-35423573 6:35455796-35455796

Expression for Fanconi Anemia, Complementation Group E

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group E.

Pathways for Fanconi Anemia, Complementation Group E

Pathways related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 FANCG FANCF FANCE FANCD2 FANCC FANCA
2
Show member pathways
12.34 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 11.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
4
Show member pathways
11.35 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 10.56 FANCG FANCF FANCE FANCD2 FANCC FANCA

GO Terms for Fanconi Anemia, Complementation Group E

Cellular components related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCG FANCF FANCE FANCC FANCA

Biological processes related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.63 FANCG FANCF FANCE FANCD2 FANCC FANCA
2 regulation of DNA-binding transcription factor activity GO:0051090 9.46 FANCD2 FANCA
3 gamete generation GO:0007276 9.43 FANCD2 FANCC
4 DNA repair GO:0006281 9.43 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 neuronal stem cell population maintenance GO:0097150 9.4 FANCD2 FANCC
6 brain morphogenesis GO:0048854 9.37 FANCD2 FANCC
7 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
8 regulation of CD40 signaling pathway GO:2000348 9.26 FANCD2 FANCA
9 interstrand cross-link repair GO:0036297 9.1 FANCG FANCF FANCE FANCD2 FANCC FANCA

Sources for Fanconi Anemia, Complementation Group E

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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