MCID: FNC043
MIFTS: 45

Fanconi Anemia, Complementation Group E malady

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

Aliases & Classifications for Fanconi Anemia, Complementation Group E

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Aliases & Descriptions for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 52 12 68
Fanconi Anemia Complementation Group E 70 27
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 48
Friedman-Goodman Syndrome 48
 
Friedman Goodman Syndrome 48
Faces Syndrome 48
Fance 70

Classifications:



External Ids:

OMIM52 600901
MedGen37 C3160739
MeSH39 D005199

Summaries for Fanconi Anemia, Complementation Group E

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UniProtKB/Swiss-Prot:70 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 fanconi anemia, complementation group a, and has symptoms including anteverted nares, ptosis and genu varum. An important gene associated with Fanconi Anemia, Complementation Group E is FANCE (Fanconi Anemia Complementation Group E), and among its related pathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include skin, bone marrow and bone, and related mouse phenotypes are Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation and Increased viability with MLN4924 (a NAE inhibitor).

OMIM:52 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and... (600901) more...

NIH Rare Diseases:48 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

Related Diseases for Fanconi Anemia, Complementation Group E

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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 all 48)
idRelated DiseaseScoreTop Affiliating Genes
1fance-related fanconi anemia12.1
2fanconi anemia, complementation group a11.7
3whistling face syndrome, recessive form11.7
4arthrogryposis, distal, type 2a11.4
5frontonasal dysplasia 111.3
6velocardiofacial syndrome11.2
7conotruncal heart malformations11.0
8robinow syndrome, autosomal dominant 111.0
9squamous cell carcinoma, head and neck10.9
10fanconi anemia, complementation group b10.9
11congenital hypoplastic anemia10.9
123-m syndrome 110.9
13alpha-thalassemia/mental retardation syndrome10.9
14robinow syndrome, autosomal recessive10.6
15illum syndrome10.6
16autosomal dominant robinow syndrome10.6
17ror2-related robinow syndrome10.6
18acromegaloid hypertrichosis syndrome10.6
19arthrogryposis multiplex congenita whistling face10.6
20facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome10.6
21adenoid hypertrophy10.5
22aplastic anemia9.8
23leiomyoma9.8
249q22.3 microdeletion9.8
25dysostosis9.5
26rheumatoid arthritis9.3
27hyperprolactinemia9.3
28williams-beuren syndrome9.3
29smith-lemli-opitz syndrome9.3
30rubinstein-taybi syndrome9.3
31arthritis9.3
32holoprosencephaly9.3
33hydrocephalus9.3
34blepharophimosis9.3
35encephalocele9.3
36growth hormone deficiency9.3
37isolated growth hormone deficiency9.3
38microtia9.3
39dysphagia9.3
40hypersomnia9.3
41basal encephalocele9.3
42secondary hyperparathyroidism of renal origin9.1FANCA, FANCC, FANCG
43microphthalmia8.4FANCA, FANCC, FANCD2, FANCG
44fibromatosis, gingival, 48.2FANCA, FANCC, FANCD2, FANCF, FANCG
45antiphospholipid syndrome, familial7.9FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
46episodic muscle weakness, x-linked7.9FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
47bejel7.9FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
48lymphedema-distichiasis syndrome7.7FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

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

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Symptoms by clinical synopsis from OMIM:

600901

Clinical features from OMIM:

600901

Human phenotypes related to Fanconi Anemia, Complementation Group E:

 64 (show all 49)
id Description HPO Frequency HPO Source Accession
1 anteverted nares64 hallmark (90%) HP:0000463
2 ptosis64 hallmark (90%) HP:0000508
3 genu varum64 hallmark (90%) HP:0002970
4 midline defect of the nose64 hallmark (90%) HP:0004122
5 short stature64 hallmark (90%) HP:0004322
6 decreased body weight64 hallmark (90%) HP:0004325
7 finger syndactyly64 hallmark (90%) HP:0006101
8 pectus excavatum64 typical (50%) HP:0000767
9 abnormality of the thyroid gland64 typical (50%) HP:0000820
10 cafe-au-lait spot64 typical (50%) HP:0000957
11 melanocytic nevus64 typical (50%) HP:0000995
12 asymmetry of the thorax64 typical (50%) HP:0001555
13 abnormality of the voice64 typical (50%) HP:0001608
14 scoliosis64 typical (50%) HP:0002650
15 kyphosis64 typical (50%) HP:0002808
16 skeletal muscle atrophy64 typical (50%) HP:0003202
17 abnormality of retinal pigmentation64 typical (50%) HP:0007703
18 short hard palate64 typical (50%) HP:0010290
19 abnormality of the mitral valve64 occasional (7.5%) HP:0001633
20 generalized hypopigmentation64 occasional (7.5%) HP:0007513
21 cryptorchidism64 HP:0000028
22 duplicated collecting system64 HP:0000081
23 horseshoe kidney64 HP:0000085
24 ectopic kidney64 HP:0000086
25 renal agenesis64 HP:0000104
26 microcephaly64 HP:0000252
27 hearing impairment64 HP:0000365
28 strabismus64 HP:0000486
29 microphthalmia64 HP:0000568
30 hypergonadotropic hypogonadism64 HP:0000815
31 bruising susceptibility64 HP:0000978
32 abnormality of skin pigmentation64 HP:0001000
33 anemic pallor64 HP:0001017
34 intellectual disability64 HP:0001249
35 small for gestational age64 HP:0001518
36 thrombocytopenia64 HP:0001873
37 neutropenia64 HP:0001875
38 pancytopenia64 HP:0001876
39 reticulocytopenia64 HP:0001896
40 anemia64 HP:0001903
41 leukemia64 HP:0001909
42 deficient excision of uv-induced pyrimidine dimers in dna64 HP:0003213
43 prolonged g2 phase of cell cycle64 HP:0003214
44 chromosomal breakage induced by crosslinking agents64 HP:0003221
45 absent radius64 HP:0003974
46 absent thumb64 HP:0009777
47 short thumb64 HP:0009778
48 complete duplication of thumb phalanx64 HP:0009943
49 abnormality of cardiovascular system morphology64 HP:0030680

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00242-A-410.1FANCC, FANCF
2GR00250-A-37.9FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.9FANCA, FANCC, FANCD2, FANCG
2MP:00053898.2FANCA, FANCC, FANCD2, FANCG

Drugs & Therapeutics for Fanconi Anemia, Complementation Group E

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenograstimapprovedPhase 11202135968-09-1
Synonyms:
G-CSF (CHO cell derived)
Glycosylated recombinant G-CSF
Glycosylated recombinant granulocyte colony stimulating factor
 
Granulocyte colony stimulating factor 3 (CHO cell derived)
Granulocyte colony-stimulating factor lenograstim
Lenograstim (genetical recombination)
Lenograstim rDNA

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's AnemiaUnknown statusNCT00005896Phase 1

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Genetic Tests for Fanconi Anemia, Complementation Group E

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Genetic tests related to Fanconi Anemia, Complementation Group E:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group E27

Anatomical Context for Fanconi Anemia, Complementation Group E

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

36
Skin, Bone marrow, Bone, Eye, Kidney, Skeletal muscle, Thyroid

Publications for Fanconi Anemia, Complementation Group E

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Articles related to Fanconi Anemia, Complementation Group E:

idTitleAuthorsYear
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

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FANCENM_021922.2(FANCE): c.355C> T (p.Gln119Ter)SNVPathogenicrs121434505GRCh37Chr 6, 35423630: 35423630
2FANCENM_021922.2(FANCE): c.421C> T (p.Arg141Ter)SNVPathogenicrs121434506GRCh37Chr 6, 35423696: 35423696
3FANCENG_011708.1: g.11963G> ASNVPathogenicrs878854342GRCh37Chr 6, 35427100: 35427100

Expression for genes affiliated with Fanconi Anemia, Complementation Group E

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

Pathways for genes affiliated with Fanconi Anemia, Complementation Group E

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GO Terms for genes affiliated with Fanconi Anemia, Complementation Group E

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

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:00432408.3FANCA, FANCC, FANCE, FANCF, FANCG
2nucleoplasmGO:00056547.1FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular response to oxidative stressGO:003459910.2FANCC, FANCD2
2regulation of CD40 signaling pathwayGO:200034810.0FANCA, FANCD2
3protein complex assemblyGO:000646110.0FANCA, FANCC
4mitophagy in response to mitochondrial depolarizationGO:00987799.9FANCC, FANCF
5regulation of inflammatory responseGO:00507279.9FANCA, FANCD2
6regulation of regulatory T cell differentiationGO:00455899.9FANCA, FANCD2
7ovarian follicle developmentGO:00015419.6FANCF, FANCG
8regulation of sequence-specific DNA binding transcription factor activityGO:00510909.5FANCA, FANCD2
9cellular response to DNA damage stimulusGO:00069749.3FANCD2, FANCF, FANCG
10DNA repairGO:00062819.2FANCA, FANCC, FANCG
11interstrand cross-link repairGO:00362977.7FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

Sources for Fanconi Anemia, Complementation Group E

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet