FANCE
MCID: FNC043
MIFTS: 55

Fanconi Anemia, Complementation Group E (FANCE) malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Skin diseases, Nephrological diseases, Cancer diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group E

Aliases & Descriptions for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 54 13 69
Fanconi Anemia Complementation Group E 12 66 29
Fance 12 66
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 50
Friedman-Goodman Syndrome 50
Friedman Goodman Syndrome 50
Faces Syndrome 50
Face 12

Classifications:



External Ids:

OMIM 54 600901
Disease Ontology 12 DOID:0111084
MedGen 40 C3160739
MeSH 42 D005199

Summaries for Fanconi Anemia, Complementation Group E

UniProtKB/Swiss-Prot : 66 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 fance-related fanconi anemia and congenital contractures of the limbs and face, hypotonia, and developmental delay, and has symptoms including anemic pallor, intellectual disability and hearing impairment. An important gene associated with Fanconi Anemia, Complementation Group E is FANCE (Fanconi Anemia Complementation Group E), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Guaifenesin and Alverine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation

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

NIH Rare Diseases : 50 faces syndrome, also known as friedman-goodman syndrome, is a condition that is characterized by unique facial features, anorexia, cachexia (body wasting) and eye and skin lesions. the pattern of inheritance and underlying genetic cause of faces syndrome has not yet been established. faces syndrome has only been reported in three members of the same family. last updated: 7/6/2011

OMIM : 54 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and... (600901) more...

Related Diseases for Fanconi Anemia, Complementation Group E

Diseases in the Fanconi Anemia, Complementation Group E family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group F
Fanconi Anemia, Complementation Group D1

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

(show top 50) (show all 1354)
id Related Disease Score Top Affiliating Genes
1 fance-related fanconi anemia 12.1
2 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.1
3 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.8
4 arthrogryposis multiplex congenita whistling face 11.8
5 hemangiomas, cavernous, of face and supraumbilical midline raphe 11.7
6 fanconi anemia, complementation group a 11.7
7 coarse face hypotonia constipation 11.7
8 brachydactyly small stature face anomalies 11.7
9 short limbs abnormal face congenital heart disease 11.7
10 mental retardation, microcephaly, epilepsy, and coarse face 11.7
11 short stature dysmorphic face pelvic scapula dysplasia 11.7
12 whistling face syndrome, recessive form 11.7
13 cavernous hemangioma of face 11.7
14 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.7
15 frontonasal dysplasia 1 11.5
16 robinow syndrome 11.5
17 developmental prosopagnosia 11.4
18 fountain syndrome 11.4
19 prosopagnosia 11.3
20 phace syndrome 11.3
21 distal arthrogryposis 11.3
22 arthrogryposis, distal, type 2a 11.2
23 velocardiofacial syndrome 11.2
24 robinow syndrome, autosomal dominant 1 11.2
25 fryns syndrome 11.1
26 trigeminal neuralgia 11.1
27 floating-harbor syndrome 11.1
28 crouzon syndrome 11.1
29 robinow syndrome, autosomal recessive 11.1
30 kaufman oculocerebrofacial syndrome 11.1
31 trichostasis spinulosa 11.1
32 cold-induced sweating syndrome 1 11.1
33 squamous cell carcinoma, head and neck 11.0
34 fanconi anemia, complementation group b 11.0
35 congenital hypoplastic anemia 11.0
36 conotruncal heart malformations 11.0
37 hemifacial microsomia 11.0
38 hemifacial spasm 11.0
39 rosacea 11.0
40 facial dermoid cyst 10.9
41 tremor 10.9
42 lethal midline granuloma 10.9
43 rubella 10.9
44 bell's palsy 10.9
45 retinoschisis 10.9
46 letterer-siwe disease 10.9
47 hemifacial myohyperplasia 10.9
48 herpes zoster 10.9
49 fragile x syndrome 10.9
50 psoriasis 10.9

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

Symptoms by clinical synopsis from OMIM:

600901

Clinical features from OMIM:

600901

Human phenotypes related to Fanconi Anemia, Complementation Group E:

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

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
id 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
2 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 8.96 FANCC FANCF

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 348)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
2
Alverine Approved Phase 4 150-59-4 3678
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
4
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-02-2 5743
7
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
8
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
9
Lamivudine Approved, Investigational Phase 4,Phase 1 134678-17-4 60825
10
Nelfinavir Approved Phase 4 159989-64-7 64143
11
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
12
Cocaine Approved, Illicit Phase 4,Phase 1 50-36-2 5760 446220
13
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
14
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 4 24280-93-1 446541
16
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
17
Vancomycin Approved Phase 4 1404-90-6 441141 14969
18
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
19
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
20
Ibuprofen Approved Phase 4 15687-27-1 3672
21
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
22
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
23 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
25 Anesthetics, Local Phase 4,Phase 2,Phase 3
26 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
27 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
28 insulin Phase 4,Phase 1,Early Phase 1
29 Insulin, Globin Zinc Phase 4,Phase 1,Early Phase 1
30 Antihypertensive Agents Phase 4,Phase 2
31 Protective Agents Phase 4,Phase 2,Phase 1
32 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Albuterol Phase 4
34 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Analgesics Phase 4,Phase 3
37 Analgesics, Opioid Phase 4,Phase 3
38 Antitussive Agents Phase 4
39 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
40 Narcotics Phase 4,Phase 3
41 Anticonvulsants Phase 4,Phase 3
42 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
43
Mebeverine Phase 4 3625-06-7 62887
44 Parasympatholytics Phase 4
45 Contraceptive Agents Phase 4,Phase 3
46 Estradiol 17 beta-cypionate Phase 4
47 Estradiol 3-benzoate Phase 4
48 Estradiol valerate Phase 4 979-32-8
49 Estrogens Phase 4,Phase 3,Phase 1
50 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 367)
id Name Status NCT ID Phase
1 Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. Unknown status NCT00331656 Phase 4
2 Face Masks for Preventing Influenza Transmission Completed NCT00774774 Phase 4
3 Management of Irritable Bowel Syndrome in Primary Care (MIBS Trial) Completed NCT00934973 Phase 4
4 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
5 Pharyngeal Size in Patients With Obstructive Tonsils Under Orthodontic Treatment Completed NCT01164631 Phase 4
6 Ultrasound Guided Trigeminal Nerve Block for Typical or Atypical Facial Pain Completed NCT02024724 Phase 4
7 The Effects of BAK on the Blood Aqueous Barrier of Pseudophakic Patients Completed NCT01280110 Phase 4
8 Evaluation Of The Total Face Mask For Emergency Application In Acute Respiratory Failure Completed NCT00686257 Phase 4
9 A Study to Determine How and Why HIV-Infected Subjects on Anti-viral Treatment Develop Lipodystrophy Completed NCT00006190 Phase 4
10 Antihypertensive Effect of Continuous Positive Airway Pressure in Resistant Hypertensive Patients With Sleep Apnea Completed NCT00929175 Phase 4
11 Evaluate the Use of Plastic Bags in Preventing and Treating Hypothermia in Neonates Completed NCT01403623 Phase 4
12 Myfortic® for Minimal Change Nephrotic Syndrome (MCNS): a Randomized Study Recruiting NCT01185197 Phase 4
13 Effect and Safety of Oral Vancomycin in Primary Sclerosing Cholangitis Patients Recruiting NCT02605213 Phase 4
14 Adherence and Preference of Continuous Positive Airway Pressure Versus Mandibular Advancement Splints in Obstructive Sleep Apnea Patients: A Randomized Trial (CHOICE) Recruiting NCT02242617 Phase 4
15 Trial of Hyperoxic O2 Therapy vs. Normoxic O2 Therapy in Sepsis Recruiting NCT02378545 Phase 4
16 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part I Recruiting NCT01604317 Phase 4
17 Facial Lipoatrophy Trial: Immediate Versus Deferred Injections of Poly-L-Lactic Acid for HIV Facial Lipoatrophy Terminated NCT00126308 Phase 4
18 Assessment of the Effectivity of Total-face Mask for Noninvasive Ventilation During Acute Respiratory Failure Terminated NCT00243828 Phase 4
19 Non-Invasive Mechanical Ventilation in Elderly Patients Terminated NCT00600639 Phase 4
20 Post-operative Pain Control After Pediatric Adenotonsillectomy Terminated NCT02296840 Phase 4
21 Dementia Early Recognition and Response in Primary Care Unknown status NCT00866099 Phase 2, Phase 3
22 Evaluating the Effects of Music Interventions on Hospitalised People With Dementia Unknown status NCT00448318 Phase 2, Phase 3
23 Prevention of Reintubation by Using Noninvasive Positive Pressure Ventilation Unknown status NCT00977002 Phase 3
24 Treatment of Temporomandibular Dysfunction With Hypertonic Dextrose Injection Unknown status NCT01617356 Phase 2, Phase 3
25 Cognitive Skills Training Using Computer for Patients With Severe Mental Illness Unknown status NCT01036282 Phase 2, Phase 3
26 NAVA Helmet in Pediatric Respiratory Failure Unknown status NCT02050217 Phase 3
27 Safety and Efficacy of Intradermal Injections of Newfill Versus Eutrophill in the Treatment of Facial Lipoatrophy in HIV-infected Patients ANRS 132 SMILE Completed NCT00383734 Phase 3
28 Nursing Management of Irritable Bowel Syndrome:Improving Outcomes Completed NCT00167635 Phase 2, Phase 3
29 Topical Rapamycin for Fibrofolliculomas Completed NCT00928798 Phase 3
30 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3
31 Polyacrylamide Hydrogel Injection in HIV-related Lipoatrophy Completed NCT01077765 Phase 3
32 Treatment of Infertility in Women With Polycystic Ovary Syndrome Completed NCT00068861 Phase 3
33 A Study of Flexibly Dosed Paliperidone Extended Release Tablets in Participants With Schizophrenia Completed NCT01541371 Phase 3
34 An Efficacy and Safety Study of Paliperidone Palmitate in Participants With Schizophrenia Completed NCT01299389 Phase 3
35 Noninvasive Continuous Positive Airway Pressure (NCPAP) in Children Completed NCT01242150 Phase 3
36 An Extension Study of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00936741 Phase 3
37 A Study of the Efficacy and Safety of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00569582 Phase 3
38 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3
39 Biofeedback-Based Cognitive Behavioral Treatment for Temporomandibular Disorders Completed NCT00769561 Phase 2, Phase 3
40 Treatment of Temporomandibular Dysfunction With Hypertonic Dextrose Injection Completed NCT01706172 Phase 2, Phase 3
41 Effects of OroPharyngeal Exercises on Patients With Moderate Obstructive Sleep Apnea Completed NCT00660777 Phase 3
42 Assessment of Oxidative Stress Markers in the Upper and Lower Airways of Atopic Children Treated With Nebulized Beclomethasone Completed NCT01113489 Phase 3
43 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
44 Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT02635789 Phase 3
45 HIV Symptom Management Program for African American Mothers Completed NCT00065819 Phase 3
46 Investigation of the Efficacy and Safety of Drotrecogin Alfa (Activated) in Pediatric Severe Sepsis Completed NCT00049764 Phase 3
47 Antiretroviral Treatment Simplified Follow-up Management Assessment (ANRS 12110 STRATALL) Completed NCT00301561 Phase 3
48 Clinical Effect of the Association of Noninvasive Ventilation and High Flow Nasal Oxygen Therapy in Resuscitation of Patients With Acute Lung Injury (FLORALI Study) Completed NCT01320384 Phase 2, Phase 3
49 Cost Effectiveness of Outpatient Set-up of Automated NIV in Obese Patients With Chronic Respiratory Failure Recruiting NCT02342899 Phase 3
50 Diet and Physical Activity Change or Usual Care in Improving Progression-Free Survival in Patients With Previously Treated Stage II, III, or IV Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT00719303 Phase 3

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:

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

Anatomical Context for Fanconi Anemia, Complementation Group E

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

39
Skin, Bone, Eye, Bone Marrow, Kidney, Heart

Publications for Fanconi Anemia, Complementation Group E

Articles related to Fanconi Anemia, Complementation Group E:

id Title Authors Year
1
Isolation of a cDNA representing the Fanconi anemia complementation group E gene. ( 11001585 )
2000
2
Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. ( 9147877 )
1996

Variations for Fanconi Anemia, Complementation Group E

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FANCE NM_021922.2(FANCE): c.355C> T (p.Gln119Ter) single nucleotide variant Pathogenic rs121434505 GRCh37 Chromosome 6, 35423630: 35423630
2 FANCE NM_021922.2(FANCE): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs121434506 GRCh37 Chromosome 6, 35423696: 35423696
3 FANCE NG_011708.1: g.11963G> A single nucleotide variant Pathogenic rs878854342 GRCh37 Chromosome 6, 35427100: 35427100

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

GO Terms for Fanconi Anemia, Complementation Group E

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.63 FANCA FANCC FANCD2 FANCE FANCF FANCG
2 nucleoplasm GO:0005654 9.43 FANCA FANCC FANCD2 FANCE FANCF FANCG
3 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCA FANCC FANCE FANCF FANCG

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.63 FANCA FANCC FANCD2 FANCE FANCF FANCG
2 protein complex assembly GO:0006461 9.51 FANCA FANCC
3 cellular response to oxidative stress GO:0034599 9.49 FANCC FANCD2
4 regulation of inflammatory response GO:0050727 9.48 FANCA FANCD2
5 ovarian follicle development GO:0001541 9.46 FANCF FANCG
6 regulation of sequence-specific DNA binding transcription factor activity GO:0051090 9.43 FANCA FANCD2
7 DNA repair GO:0006281 9.43 FANCA FANCC FANCD2 FANCE FANCF FANCG
8 neuronal stem cell population maintenance GO:0097150 9.4 FANCC FANCD2
9 brain morphogenesis GO:0048854 9.37 FANCC FANCD2
10 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCA FANCD2
11 regulation of CD40 signaling pathway GO:2000348 9.26 FANCA FANCD2
12 interstrand cross-link repair GO:0036297 9.1 FANCA FANCC FANCD2 FANCE FANCF FANCG

Sources for Fanconi Anemia, Complementation Group E

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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