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 50 12
Fanconi Anemia Complementation Group E 68 25
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 46
Friedman-Goodman Syndrome 46
 
Friedman Goodman Syndrome 46
Faces Syndrome 46
Fance 68

Classifications:



External Ids:

OMIM50 600901
MedGen35 C3160739
MeSH37 D005199

Summaries for Fanconi Anemia, Complementation Group E

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UniProtKB/Swiss-Prot:68 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 whistling face syndrome, recessive form, 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.

NIH Rare Diseases:46 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:50 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and... (600901) more...

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 49)
idRelated DiseaseScoreTop Affiliating Genes
1fance-related fanconi anemia12.2
2whistling face syndrome, recessive form11.8
3fanconi anemia, complementation group a11.6
4velocardiofacial syndrome11.5
5robinow syndrome11.3
6conotruncal heart malformations11.1
7fanconi anemia, complementation group b11.1
8congenital hypoplastic anemia11.1
93-m syndrome 111.0
10distal arthrogryposis11.0
11alpha-thalassemia x-linked intellectual disability syndrome11.0
12robinow syndrome, autosomal dominant 110.7
13robinow syndrome, autosomal recessive10.7
14illum syndrome10.7
15autosomal dominant robinow syndrome10.7
16ror2-related robinow syndrome10.7
17acromegaloid hypertrichosis syndrome10.7
18arthrogryposis multiplex congenita whistling face10.7
19facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome10.7
20aplastic anemia10.0
21leiomyoma10.0
229q22.3 microdeletion10.0
23arthrogryposis, distal, type 2a9.7
24dysostosis9.6
25adenoid hypertrophy9.6
26rheumatoid arthritis9.4
27hyperprolactinemia9.4
28williams-beuren syndrome9.4
29smith-lemli-opitz syndrome9.4
30rubinstein-taybi syndrome9.4
31arthritis9.4
32holoprosencephaly9.4
33hydrocephalus9.4
34juvenile rheumatoid arthritis9.4
35choanal atresia9.4
36encephalocele9.4
37isolated growth hormone deficiency9.4
38growth hormone deficiency9.4
39microtia9.4
40dysphagia9.4
41hypersomnia9.4
42basal encephalocele9.4
43secondary hyperparathyroidism of renal origin9.1FANCA, FANCC, FANCG
44microphthalmia8.3FANCA, FANCC, FANCD2, FANCG
45fibromatosis, gingival, 48.0FANCA, FANCC, FANCD2, FANCF, FANCG
46antiphospholipid syndrome, familial7.7FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
47episodic muscle weakness, x-linked7.7FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
48bejel7.6FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
49lymphedema-distichiasis syndrome7.5FANCA, 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

HPO human phenotypes related to Fanconi Anemia, Complementation Group E:

(show all 51)
id Description Frequency HPO Source Accession
1 anteverted nares hallmark (90%) HP:0000463
2 ptosis hallmark (90%) HP:0000508
3 genu varum hallmark (90%) HP:0002970
4 midline defect of the nose hallmark (90%) HP:0004122
5 short stature hallmark (90%) HP:0004322
6 decreased body weight hallmark (90%) HP:0004325
7 finger syndactyly hallmark (90%) HP:0006101
8 pectus excavatum typical (50%) HP:0000767
9 abnormality of the thyroid gland typical (50%) HP:0000820
10 cafe-au-lait spot typical (50%) HP:0000957
11 melanocytic nevus typical (50%) HP:0000995
12 asymmetry of the thorax typical (50%) HP:0001555
13 abnormality of the voice typical (50%) HP:0001608
14 scoliosis typical (50%) HP:0002650
15 kyphosis typical (50%) HP:0002808
16 skeletal muscle atrophy typical (50%) HP:0003202
17 abnormality of retinal pigmentation typical (50%) HP:0007703
18 short hard palate typical (50%) HP:0010290
19 abnormality of the mitral valve occasional (7.5%) HP:0001633
20 generalized hypopigmentation occasional (7.5%) HP:0007513
21 cryptorchidism HP:0000028
22 duplicated collecting system HP:0000081
23 horseshoe kidney HP:0000085
24 ectopic kidney HP:0000086
25 renal agenesis HP:0000104
26 microcephaly HP:0000252
27 hearing impairment HP:0000365
28 strabismus HP:0000486
29 microphthalmia HP:0000568
30 hypergonadotropic hypogonadism HP:0000815
31 cafe-au-lait spot HP:0000957
32 bruising susceptibility HP:0000978
33 abnormality of skin pigmentation HP:0001000
34 anemic pallor HP:0001017
35 intellectual disability HP:0001249
36 small for gestational age HP:0001518
37 thrombocytopenia HP:0001873
38 neutropenia HP:0001875
39 pancytopenia HP:0001876
40 reticulocytopenia HP:0001896
41 anemia HP:0001903
42 leukemia HP:0001909
43 deficient excision of uv-induced pyrimidine dimers in dna HP:0003213
44 prolonged g2 phase of cell cycle HP:0003214
45 chromosomal breakage induced by crosslinking agents HP:0003221
46 absent radius HP:0003974
47 short stature HP:0004322
48 absent thumb HP:0009777
49 short thumb HP:0009778
50 complete duplication of thumb phalanx HP:0009943
51 abnormality of cardiovascular system morphology 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
1lenograstimPhase 11178

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 AnemiaActive, not recruitingNCT00005896Phase 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 E25

Anatomical Context for Fanconi Anemia, Complementation Group E

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.2FANCA, FANCC, FANCD2, FANCG
2MP:00053898.1FANCA, 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)single nucleotide variantPathogenicrs121434505GRCh37Chr 6, 35423630: 35423630
2FANCENM_021922.2(FANCE): c.421C> T (p.Arg141Ter)single nucleotide variantPathogenicrs121434506GRCh37Chr 6, 35423696: 35423696
3FANCENG_011708.1: g.11963G> Asingle nucleotide variantPathogenicrs878854342GRCh37Chr 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:00432408.2FANCA, 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
3cellular response to oxidative stressGO:00345999.7FANCC, FANCD2
4protein complex assemblyGO:00064619.6FANCA, FANCC
5regulation of inflammatory responseGO:00507279.5FANCA, FANCD2
6mitophagy in response to mitochondrial depolarizationGO:00987799.2FANCC, FANCF
7regulation of regulatory T cell differentiationGO:00455899.2FANCA, FANCD2
8ovarian follicle developmentGO:00015419.1FANCF, FANCG
9DNA repairGO:00062818.9FANCA, FANCC, FANCG
10cellular response to DNA damage stimulusGO:00069748.6FANCD2, FANCF, FANCG
11interstrand cross-link repairGO:00362977.4FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

Sources for Fanconi Anemia, Complementation Group E

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet