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 seckel syndrome and fanconi anemia, complementation group u, 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 Diclofenac and Ciclopirox have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and breast, and related phenotypes are hearing impairment and intellectual disability

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)

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 3140)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 31.3 FANCE FANCD2 FANCA
2 fanconi anemia, complementation group u 31.3 FANCF FANCE FANCD2 FANCA
3 fanconi anemia, complementation group v 31.2 FANCE FANCD2 FANCC FANCA
4 fanconi anemia, complementation group b 31.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 fanconi anemia, complementation group j 31.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
6 xeroderma pigmentosum, variant type 31.1 FANCG FANCD2 FANCC FANCA
7 esophageal atresia 30.8 FANCG FANCF FANCE FANCD2 FANCC FANCA
8 fanconi anemia, complementation group d2 30.8 FANCG FANCD2 FANCA
9 squamous cell carcinoma, head and neck 30.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
10 fanconi anemia, complementation group r 30.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
11 fanconi anemia, complementation group o 30.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
12 fanconi anemia, complementation group t 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
13 fanconi anemia, complementation group q 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
14 fanconi anemia, complementation group p 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
15 fanconi anemia, complementation group n 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
16 fanconi anemia, complementation group f 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
17 fanconi anemia, complementation group d1 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
18 fanconi anemia, complementation group i 30.3 FANCF FANCD2 FANCA
19 macular retinal edema 29.9 FANCG FANCC
20 fanconi anemia, complementation group c 29.7 FANCF FANCD2 FANCC FANCA
21 fanconi anemia, complementation group a 29.3 FANCG FANCF FANCE FANCD2 FANCC FANCA
22 peliosis hepatis 29.1 FANCG 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 cavernous hemangioma of face 12.3
28 hemangiomas, cavernous, of face and supraumbilical midline raphe 12.3
29 cysts and fistulae of the face and oral cavity 12.3
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 fountain syndrome 11.9
41 robinow 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 facial infiltrating lipomatosis 11.8
47 crisponi/cold-induced sweating syndrome 1 11.8
48 alpha thalassemia-x-linked intellectual disability syndrome 11.8
49 cold-induced sweating syndrome 11.8
50 illum syndrome 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 hearing impairment 31 HP:0000365
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 anemia 31 HP:0001903
7 strabismus 31 HP:0000486
8 abnormality of skin pigmentation 31 HP:0001000
9 cryptorchidism 31 HP:0000028
10 horseshoe kidney 31 HP:0000085
11 ectopic kidney 31 HP:0000086
12 thrombocytopenia 31 HP:0001873
13 microphthalmia 31 HP:0000568
14 leukemia 31 HP:0001909
15 short thumb 31 HP:0009778
16 neutropenia 31 HP:0001875
17 bruising susceptibility 31 HP:0000978
18 complete duplication of thumb phalanx 31 HP:0009943
19 hypergonadotropic hypogonadism 31 HP:0000815
20 abnormality of cardiovascular system morphology 31 HP:0030680
21 abnormal heart morphology 31 HP:0001627
22 cafe-au-lait spot 31 HP:0000957
23 absent radius 31 HP:0003974
24 renal agenesis 31 HP:0000104
25 small for gestational age 31 HP:0001518
26 pancytopenia 31 HP:0001876
27 absent thumb 31 HP:0009777
28 duplicated collecting system 31 HP:0000081
29 reticulocytopenia 31 HP:0001896
30 psychomotor retardation 31 HP:0025356
31 anemic pallor 31 HP:0001017
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
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
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

Cardiovascular Heart:
congenital heart defect

Growth Weight:
low birth weight

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Hematology:
anemia
thrombocytopenia
leukemia
neutropenia
pancytopenia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hypergonadotropic hypogonadism

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

Head And Neck Ears:
deafness
ear anomaly

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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.32 FANCA FANCD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 FANCA FANCD2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.32 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 9.1 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 1018)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
3
Levetiracetam Approved Phase 4 102767-28-2 441341
4
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
5
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
6
Montelukast Approved Phase 4 158966-92-8 5281040
7
Rilpivirine Approved Phase 4 500287-72-9
8
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
9
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
10
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
11
Oxcarbazepine Approved Phase 4 28721-07-5 34312
12
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
13
Chlorthalidone Approved Phase 4 77-36-1 2732
14
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
15
Amitriptyline Approved Phase 4 50-48-6 2160
16
Perphenazine Approved Phase 4 58-39-9 4748
17
Nalbuphine Approved Phase 4 20594-83-6 5311304 5360630
18
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
19
Cobicistat Approved Phase 4 1004316-88-4
20
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
21
Adapalene Approved Phase 4 106685-40-9 60164
22
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
23
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
24
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
25
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
26
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
27
Methadone Approved Phase 4 76-99-3 4095
28
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
29
Infliximab Approved Phase 4 170277-31-3
30
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
31
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
32
Benzyl alcohol Approved Phase 4 100-51-6 244
33
Desoximetasone Approved Phase 4 382-67-2 5311067
34
Kinetin Approved Phase 4 525-79-1 3830
35
Polidocanol Approved Phase 4 9002-92-0
36
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
37
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
38
Polyestradiol phosphate Approved Phase 4 28014-46-2
39
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
40
Histamine Approved, Investigational Phase 4 51-45-6 774
41
Cetirizine Approved Phase 4 83881-51-0 2678
42
Desloratadine Approved, Investigational Phase 4 100643-71-8 124087
43
Titanium dioxide Approved Phase 4 13463-67-7
44
Avobenzone Approved, Investigational Phase 4 70356-09-1
45
Oxybenzone Approved, Investigational Phase 4 131-57-7 4632
46
carbamide peroxide Approved Phase 4 124-43-6
47
Metformin Approved Phase 4 657-24-9 14219 4091
48
Sage Approved Phase 4
49
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
50
silver nitrate Approved, Investigational Phase 4 7761-88-8

Interventional clinical trials:

(show top 50) (show all 6197)
# 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 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
3 Efficacy of KAM2904 Face Cream and KAM3008 Body Lotion Treatment in Children With Atopic Dermatitis (AD) Unknown status NCT01781663 Phase 4
4 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
5 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
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 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
11 A Novel Method of Preoxygenation Using Partial Rebreathing Via a Coaxial Mapleson D Breathing System (Bain Circuit) Unknown status NCT00958178 Phase 4 Oxygen
12 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
13 An Evaluation of Innovative Methods for Integrating Buprenorphine Opioid Treatment in HIV Primary Care Settings Unknown status NCT00124358 Phase 4 Buprenorphine
14 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
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 Optimal Duration of Antimicrobial Susceptibility Test (AST) Guided Rescue Therapy for Helicobacter Pylori Infection Unknown status NCT02934048 Phase 4
17 Role of Progesterone in Hypoactive Sexual Desire Disorder in Menopausal Women Unknown status NCT02968342 Phase 4
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 Evaluation of Effectiveness and Safety of Oral Vancomycin in Treatment of Primary Sclerosing Cholangitis. Unknown status NCT02605213 Phase 4 Vancomycin;Placebo
20 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
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 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Unknown status NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam
24 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
25 Bimatoprost 0.03% Solution, NB-UVB and Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Unknown status NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
26 Double-blind Placebo Controlled Trial of VSL#3 in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
27 Pilot Study: The Effect of Rozerem on Sleep Disturbance After Traumatic Brain Injury Unknown status NCT01207050 Phase 4 Ramelteon
28 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
29 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
30 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
31 Impact of Antibiotic Treatment Following Implantation of Cardiac Electronic Device on Patient's Outcome Unknown status NCT03148444 Phase 4 cefalexin 500 mg qid or roxithromycin 150 mg bid
32 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease Unknown status NCT01116063 Phase 4 Inhaled iloprost
33 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
34 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
35 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
36 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
37 Comparison of Analgesic Efficacy of Two Different Doses of Dexmedetomidine as Adjuncts to Lidocaine for Intravenous Regional Anesthesia: Randomized Clinical Trial. Unknown status NCT03399474 Phase 4 Dexmedetomidine Injection 0.25 ug/kg;Lidocaine;Nalbuphine;Paracetamol;Diclofenac sodium (Voltaren®);Dexmedetomidine Injection 0.5ug/kg
38 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%
39 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
40 Attenuation of Spinal Induced Hypotension With Granisetron in Type I Diabetic Parturients Unknown status NCT03091881 Phase 4 Granisetron 0.1 MG/ML;Placebos
41 A Randomised Open Label, Blinded End Point Trial to Compare the Effects of Spironolactone With Chlortalidone on LV Mass in Stage 3 Chronic Kidney Disease (SPIRO-CKD) Unknown status NCT02502981 Phase 4 Spironolactone;Chlortalidone
42 Intron-A/Aldara Combination Therapy for BCC Excluding the Face and Scalp Completed NCT00581425 Phase 4
43 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
44 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)
45 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
46 A Comparative Evaluation of the Performance and Fit of Pediatric Face Masks Completed NCT02224612 Phase 4
47 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
48 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
49 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%
50 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

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, Testes, Breast, Brain, Heart, Lung, Eye

Publications for Fanconi Anemia, Complementation Group E

Articles related to Fanconi Anemia, Complementation Group E:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Isolation of a cDNA representing the Fanconi anemia complementation group E gene. 6 56 61
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. 6 56
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
Clinical and Molecular Correlates of Tumor Mutation Burden in Non-Small Cell Lung Cancer. 61
32505734 2020
13
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. 61
31586946 2020
14
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
15
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
16
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
17
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. 61
30306255 2018
18
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines. 61
29880898 2018
19
Case study: patient-derived clear cell adenocarcinoma xenograft model longitudinally predicts treatment response. 61
30202792 2018
20
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 61
28678401 2017
21
Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. 61
28878254 2017
22
Common Variable Immunodeficiency Caused by FANC Mutations. 61
28493158 2017
23
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. 61
27986371 2017
24
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2. 61
27986592 2017
25
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 61
27165003 2016
26
Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male Mice. 61
27486799 2016
27
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
28
Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model. 61
26939056 2016
29
SSIEM 2015 Annual Symposium : Lyon, Fance, August 2015. 61
26231229 2015
30
Analysis of a FANCE Splice Isoform in Regard to DNA Repair. 61
26277624 2015
31
Modularized functions of the Fanconi anemia core complex. 61
24910428 2014
32
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
33
Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population. 61
23504502 2013
34
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 61
22778927 2012
35
Mutations in Fanconi anemia genes and the risk of esophageal cancer. 61
21279724 2011
36
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 61
19861535 2009
37
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 61
19405097 2009
38
A possible approach for stem cell gene therapy of Fanconi anemia. 61
19275569 2009
39
FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex. 61
18995830 2008
40
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 61
17924555 2008
41
Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway. 61
17296736 2007
42
Insights into Fanconi Anaemia from the structure of human FANCE. 61
17308347 2007
43
Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. 61
17409780 2007
44
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
45
Evidence for subcomplexes in the Fanconi anemia pathway. 61
16720839 2006
46
The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC. 61
16513431 2006
47
The Fanconi anemia gene network is conserved from zebrafish to human. 61
16515849 2006
48
FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway. 61
16127171 2005
49
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 61
16116424 2005
50
The Fanconi anemia core complex associates with chromatin during S phase. 61
15256425 2005

Variations for Fanconi Anemia, Complementation Group E

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

6 (show top 50) (show all 133) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCE NM_021922.3(FANCE):c.929dup (p.Val311fs)duplication Pathogenic 655390 6:35425714-35425715 6:35457937-35457938
2 FANCE NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)SNV Pathogenic 859286 6:35425732-35425732 6:35457955-35457955
3 FANCE NM_021922.2(FANCE):c.355C>T (p.Gln119Ter)SNV Pathogenic 8709 rs121434505 6:35423630-35423630 6:35455853-35455853
4 FANCE NM_021922.2(FANCE):c.421C>T (p.Arg141Ter)SNV Pathogenic 8710 rs121434506 6:35423696-35423696 6:35455919-35455919
5 FANCE NM_021922.2(FANCE):c.1114-8G>ASNV Pathogenic 8711 rs878854342 6:35427100-35427100 6:35459323-35459323
6 FANCE NM_021922.3(FANCE):c.248+2T>CSNV Likely pathogenic 802206 6:35420572-35420572 6:35452795-35452795
7 FANCE NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp)SNV Likely pathogenic 566449 rs775076977 6:35426215-35426215 6:35458438-35458438
8 FANCE NM_021922.2(FANCE):c.1310T>C (p.Met437Thr)SNV Conflicting interpretations of pathogenicity 414821 rs142903218 6:35427531-35427531 6:35459754-35459754
9 FANCE NM_021922.2(FANCE):c.1116C>T (p.Ile372=)SNV Conflicting interpretations of pathogenicity 414826 rs143234424 6:35427110-35427110 6:35459333-35459333
10 FANCE NM_021922.2(FANCE):c.52C>T (p.Pro18Ser)SNV Conflicting interpretations of pathogenicity 134331 rs552241929 6:35420374-35420374 6:35452597-35452597
11 FANCE NM_021922.2(FANCE):c.598C>T (p.Arg200Cys)SNV Conflicting interpretations of pathogenicity 221623 rs763151358 6:35423873-35423873 6:35456096-35456096
12 FANCE NM_021922.2(FANCE):c.253C>T (p.Pro85Ser)SNV Conflicting interpretations of pathogenicity 356444 rs145068586 6:35423528-35423528 6:35455751-35455751
13 FANCE NM_021922.2(FANCE):c.552A>C (p.Pro184=)SNV Conflicting interpretations of pathogenicity 356446 rs138182352 6:35423827-35423827 6:35456050-35456050
14 FANCE NM_021922.2(FANCE):c.696G>A (p.Glu232=)SNV Conflicting interpretations of pathogenicity 356447 rs147356927 6:35423971-35423971 6:35456194-35456194
15 FANCE NM_021922.2(FANCE):c.216G>T (p.Pro72=)SNV Conflicting interpretations of pathogenicity 356442 rs886061328 6:35420538-35420538 6:35452761-35452761
16 FANCE NM_021922.2(FANCE):c.1510-11C>TSNV Conflicting interpretations of pathogenicity 210981 rs189384185 6:35434010-35434010 6:35466233-35466233
17 FANCE NM_021922.2(FANCE):c.-105C>TSNV Uncertain significance 356437 rs886061326 6:35420218-35420218 6:35452441-35452441
18 FANCE NM_021922.2(FANCE):c.480C>A (p.Cys160Ter)SNV Uncertain significance 356445 rs45509302 6:35423755-35423755 6:35455978-35455978
19 FANCE NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp)SNV Uncertain significance 356451 rs886061331 6:35427511-35427511 6:35459734-35459734
20 FANCE NM_021922.2(FANCE):c.862C>T (p.Leu288Phe)SNV Uncertain significance 356448 rs886061329 6:35425339-35425339 6:35457562-35457562
21 FANCE NM_021922.2(FANCE):c.1007T>C (p.Leu336Pro)SNV Uncertain significance 356450 rs886061330 6:35426111-35426111 6:35458334-35458334
22 FANCE NM_021922.2(FANCE):c.1378C>T (p.Arg460Trp)SNV Uncertain significance 356452 rs200535245 6:35428390-35428390 6:35460613-35460613
23 FANCE NM_021922.2(FANCE):c.*322C>TSNV Uncertain significance 356457 rs559999264 6:35434444-35434444 6:35466667-35466667
24 FANCE NM_021922.2(FANCE):c.*401G>CSNV Uncertain significance 356458 rs886061333 6:35434523-35434523 6:35466746-35466746
25 FANCE NM_021922.2(FANCE):c.-182G>ASNV Uncertain significance 356435 rs886061324 6:35420141-35420141 6:35452364-35452364
26 FANCE NM_021922.2(FANCE):c.-132A>GSNV Uncertain significance 356436 rs886061325 6:35420191-35420191 6:35452414-35452414
27 FANCE NM_021922.2(FANCE):c.-100C>TSNV Uncertain significance 356438 rs374493565 6:35420223-35420223 6:35452446-35452446
28 FANCE NM_021922.2(FANCE):c.-19G>CSNV Uncertain significance 356440 rs13215706 6:35420304-35420304 6:35452527-35452527
29 FANCE NM_021922.2(FANCE):c.977T>G (p.Leu326Trp)SNV Uncertain significance 356449 rs779336261 6:35426081-35426081 6:35458304-35458304
30 FANCE NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg)SNV Uncertain significance 356453 rs200083899 6:35430606-35430606 6:35462829-35462829
31 FANCE NM_021922.2(FANCE):c.1593G>A (p.Leu531=)SNV Uncertain significance 356454 rs886061332 6:35434104-35434104 6:35466327-35466327
32 FANCE NM_021922.2(FANCE):c.4G>C (p.Ala2Pro)SNV Uncertain significance 356441 rs886061327 6:35420326-35420326 6:35452549-35452549
33 FANCE NM_021922.2(FANCE):c.1057C>G (p.Pro353Ala)SNV Uncertain significance 241391 rs878855070 6:35426161-35426161 6:35458384-35458384
34 FANCE NM_021922.2(FANCE):c.1459A>G (p.Met487Val)SNV Uncertain significance 241392 rs373735272 6:35430641-35430641 6:35462864-35462864
35 FANCE NM_021922.2(FANCE):c.1141C>T (p.Arg381Cys)SNV Uncertain significance 134342 rs371020401 6:35427135-35427135 6:35459358-35459358
36 FANCE NM_021922.2(FANCE):c.1509+3G>ASNV Uncertain significance 579158 rs773938335 6:35430694-35430694 6:35462917-35462917
37 FANCE NM_021922.2(FANCE):c.929C>A (p.Pro310Gln)SNV Uncertain significance 134336 rs139600847 6:35425721-35425721 6:35457944-35457944
38 FANCE NM_021922.2(FANCE):c.1095A>C (p.Arg365Ser)SNV Uncertain significance 134338 rs141268133 6:35426199-35426199 6:35458422-35458422
39 FANCE NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg)SNV Uncertain significance 134340 rs45524646 6:35426122-35426122 6:35458345-35458345
40 FANCE NM_021922.3(FANCE):c.14A>T (p.Asp5Val)SNV Uncertain significance 847695 6:35420336-35420336 6:35452559-35452559
41 FANCE NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)SNV Uncertain significance 858230 6:35420375-35420375 6:35452598-35452598
42 FANCE NM_021922.3(FANCE):c.133G>C (p.Gly45Arg)SNV Uncertain significance 861398 6:35420455-35420455 6:35452678-35452678
43 FANCE NM_021922.3(FANCE):c.449T>C (p.Met150Thr)SNV Uncertain significance 838896 6:35423724-35423724 6:35455947-35455947
44 FANCE NM_021922.3(FANCE):c.542C>T (p.Pro181Leu)SNV Uncertain significance 861240 6:35423817-35423817 6:35456040-35456040
45 FANCE NM_021922.3(FANCE):c.743C>T (p.Ala248Val)SNV Uncertain significance 837436 6:35424018-35424018 6:35456241-35456241
46 FANCE NM_021922.2(FANCE):c.229C>A (p.Pro77Thr)SNV Uncertain significance 134330 rs587778335 6:35420551-35420551 6:35452774-35452774
47 FANCE NM_021922.2(FANCE):c.1588G>A (p.Ala530Thr)SNV Uncertain significance 408159 rs377415237 6:35434099-35434099 6:35466322-35466322
48 FANCE NM_021922.2(FANCE):c.31G>A (p.Ala11Thr)SNV Uncertain significance 408158 rs753304968 6:35420353-35420353 6:35452576-35452576
49 FANCE NM_021922.2(FANCE):c.400C>T (p.Arg134Cys)SNV Uncertain significance 408154 rs181761362 6:35423675-35423675 6:35455898-35455898
50 FANCE NM_021922.2(FANCE):c.1606C>G (p.Pro536Ala)SNV Uncertain significance 408152 rs1060501873 6:35434117-35434117 6:35466340-35466340

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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