MCID: FNC043
MIFTS: 51

Fanconi Anemia, Complementation Group E

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

Aliases & Classifications for Fanconi Anemia, Complementation Group E

MalaCards integrated aliases for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 54 29 13 69
Fanconi Anemia Complementation Group E 12 71
Fance 12 71
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 50
Friedman-Goodman Syndrome 50
Friedman Goodman Syndrome 50
Faces Syndrome 50
Face 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


Classifications:



Summaries for Fanconi Anemia, Complementation Group E

UniProtKB/Swiss-Prot : 71 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 congenital contractures of the limbs and face, hypotonia, and developmental delay and fance-related fanconi anemia, and has symptoms including short stature, neutropenia and strabismus. 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 drug Lenograstim has been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, 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

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 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)

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

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 1401)
id Related Disease Score Top Affiliating Genes
1 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.1
2 fance-related fanconi anemia 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 coarse face hypotonia constipation 11.7
7 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.7
8 mental retardation, microcephaly, epilepsy, and coarse face 11.7
9 short limbs abnormal face congenital heart disease 11.7
10 short stature dysmorphic face pelvic scapula dysplasia 11.7
11 cavernous hemangioma of face 11.7
12 whistling face syndrome, recessive form 11.7
13 brachydactyly small stature face anomalies 11.7
14 frontonasal dysplasia 1 11.5
15 robinow syndrome 11.5
16 fountain syndrome 11.4
17 developmental prosopagnosia 11.4
18 prosopagnosia 11.3
19 phace syndrome 11.3
20 distal arthrogryposis 11.3
21 arthrogryposis, distal, type 2a 11.2
22 sonoda syndrome 11.2
23 robinow syndrome, autosomal dominant 1 11.2
24 velocardiofacial syndrome 11.2
25 fryns syndrome 11.2
26 floating-harbor syndrome 11.1
27 cold-induced sweating syndrome 11.1
28 trigeminal neuralgia 11.1
29 crouzon syndrome 11.1
30 cold-induced sweating syndrome 1 11.1
31 robinow syndrome, autosomal recessive 11.1
32 trichostasis spinulosa 11.1
33 battaglia-neri syndrome 11.1
34 fanconi anemia, complementation group a 11.1
35 hemifacial microsomia 11.0
36 hemifacial spasm 11.0
37 conotruncal heart malformations 10.9
38 facial dermoid cyst 10.9
39 lethal midline granuloma 10.9
40 congenital hypoplastic anemia 10.9
41 fanconi anemia, complementation group b 10.9
42 squamous cell carcinoma, head and neck 10.9
43 tremor 10.9
44 rubella 10.9
45 bell's palsy 10.9
46 letterer-siwe disease 10.9
47 retinoschisis 10.9
48 rosacea 10.9
49 hemifacial myohyperplasia 10.9
50 herpes zoster 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 via clinical synopsis from OMIM:

54

Hematology:
neutropenia
thrombocytopenia
anemia
pancytopenia
leukemia
more
Head And Neck- Head:
microcephaly

Neurologic- Central Nervous System:
psychomotor retardation

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

Skeletal- Limbs:
radial aplasia

Cardiovascular- Heart:
congenital heart defect

Growth- Height:
small stature

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

Head And Neck- Eyes:
strabismus
microphthalmia

Genitourinary- Internal Genitalia Male:
cryptorchidism

Growth- Weight:
low birth weight

Genitourinary- Kidneys:
horseshoe kidney
renal ectopia
absent kidney
kidney malformation
duplicated kidney
more
Head And Neck- Ears:
deafness
ear anomaly

Endocrine Features:
hypergonadotropic hypogonadism

Skeletal- Hands:
thumb deformity
thumb aplasia
thumb hypoplasia
duplicated thumb


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

Drugs & Therapeutics for Fanconi Anemia, Complementation Group E

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved Phase 1 135968-09-1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phase 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 Anemia Unknown status NCT00005896 Phase 1 filgrastim

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, Bone Marrow, Eye, 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 13)
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 9.52 FANCA FANCC
3 cellular response to oxidative stress GO:0034599 9.51 FANCC FANCD2
4 regulation of inflammatory response GO:0050727 9.49 FANCA FANCD2
5 ovarian follicle development GO:0001541 9.48 FANCF FANCG
6 regulation of sequence-specific DNA binding transcription factor activity GO:0051090 9.46 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 gamete generation GO:0007276 9.13 FANCD2
13 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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