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 51 12 67
Fanconi Anemia Complementation Group E 69 26
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 47
Friedman-Goodman Syndrome 47
 
Friedman Goodman Syndrome 47
Faces Syndrome 47
Fance 69

Classifications:



External Ids:

OMIM51 600901
MedGen36 C3160739
MeSH38 D005199

Summaries for Fanconi Anemia, Complementation Group E

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UniProtKB/Swiss-Prot:69 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 endocrine/exocrine gland and reproductive system.

OMIM:51 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and... (600901) more...

NIH Rare Diseases:47 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 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:

 63 (show all 49)
id Description HPO Frequency HPO Source Accession
1 anteverted nares63 hallmark (90%) HP:0000463
2 ptosis63 hallmark (90%) HP:0000508
3 genu varum63 hallmark (90%) HP:0002970
4 midline defect of the nose63 hallmark (90%) HP:0004122
5 short stature63 hallmark (90%) HP:0004322
6 decreased body weight63 hallmark (90%) HP:0004325
7 finger syndactyly63 hallmark (90%) HP:0006101
8 pectus excavatum63 typical (50%) HP:0000767
9 abnormality of the thyroid gland63 typical (50%) HP:0000820
10 cafe-au-lait spot63 typical (50%) HP:0000957
11 melanocytic nevus63 typical (50%) HP:0000995
12 asymmetry of the thorax63 typical (50%) HP:0001555
13 abnormality of the voice63 typical (50%) HP:0001608
14 scoliosis63 typical (50%) HP:0002650
15 kyphosis63 typical (50%) HP:0002808
16 skeletal muscle atrophy63 typical (50%) HP:0003202
17 abnormality of retinal pigmentation63 typical (50%) HP:0007703
18 short hard palate63 typical (50%) HP:0010290
19 abnormality of the mitral valve63 occasional (7.5%) HP:0001633
20 generalized hypopigmentation63 occasional (7.5%) HP:0007513
21 cryptorchidism63 HP:0000028
22 duplicated collecting system63 HP:0000081
23 horseshoe kidney63 HP:0000085
24 ectopic kidney63 HP:0000086
25 renal agenesis63 HP:0000104
26 microcephaly63 HP:0000252
27 hearing impairment63 HP:0000365
28 strabismus63 HP:0000486
29 microphthalmia63 HP:0000568
30 hypergonadotropic hypogonadism63 HP:0000815
31 bruising susceptibility63 HP:0000978
32 abnormality of skin pigmentation63 HP:0001000
33 anemic pallor63 HP:0001017
34 intellectual disability63 HP:0001249
35 small for gestational age63 HP:0001518
36 thrombocytopenia63 HP:0001873
37 neutropenia63 HP:0001875
38 pancytopenia63 HP:0001876
39 reticulocytopenia63 HP:0001896
40 anemia63 HP:0001903
41 leukemia63 HP:0001909
42 deficient excision of uv-induced pyrimidine dimers in dna63 HP:0003213
43 prolonged g2 phase of cell cycle63 HP:0003214
44 chromosomal breakage induced by crosslinking agents63 HP:0003221
45 absent radius63 HP:0003974
46 absent thumb63 HP:0009777
47 short thumb63 HP:0009778
48 complete duplication of thumb phalanx63 HP:0009943
49 abnormality of cardiovascular system morphology63 HP:0030680

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 E26

Anatomical Context for Fanconi Anemia, Complementation Group E

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

35
Skin, Bone marrow, Bone, Eye, Kidney, Skeletal muscle, Thyroid

Animal Models for Fanconi Anemia, Complementation Group E or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.9FANCA, FANCC, FANCD2, FANCG
2MP:00053898.2FANCA, FANCC, FANCD2, FANCG

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:00432408.1FANCA, 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
1regulation of CD40 signaling pathwayGO:200034810.1FANCA, FANCD2
2regulation of sequence-specific DNA binding transcription factor activityGO:00510909.9FANCA, FANCD2
3mitophagy in response to mitochondrial depolarizationGO:00987799.9FANCC, FANCF
4cellular response to oxidative stressGO:00345999.8FANCC, FANCD2
5protein complex assemblyGO:00064619.5FANCA, FANCC
6regulation of inflammatory responseGO:00507279.5FANCA, FANCD2
7regulation of regulatory T cell differentiationGO:00455899.2FANCA, FANCD2
8ovarian follicle developmentGO:00015419.0FANCF, FANCG
9cellular response to DNA damage stimulusGO:00069748.8FANCD2, FANCF, FANCG
10DNA repairGO:00062818.5FANCA, FANCC, FANCG
11interstrand cross-link repairGO:00362977.5FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

Sources for Fanconi Anemia, Complementation Group E

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet