MCID: FNC043
MIFTS: 52

Fanconi Anemia, Complementation Group E

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

Aliases & Classifications for Fanconi Anemia, Complementation Group E

MalaCards integrated aliases for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 53 28 13 69
Fance 53 12 71
Fanconi Anemia Complementation Group E 12 71
Faces Syndrome 72 49
Face 53 12
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 49
Friedman-Goodman Syndrome 49
Friedman Goodman Syndrome 49
Abnormality of the Face 28

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
fanconi anemia, complementation group e:
Inheritance autosomal recessive inheritance


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 fance, is related to fanconi anemia, complementation group a 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. Affiliated tissues include skin, eye and bone, 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

OMIM : 53 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)

NIH Rare Diseases : 49 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

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

Wikipedia : 72 FACES syndrome is a syndrome of unique facial features, anorexia, cachexia, eye and skin... 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 1570)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 27.3 FANCA FANCC FANCD2 FANCE FANCF FANCG
2 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.2
3 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.1
4 whistling face syndrome, recessive form 12.0
5 arthrogryposis multiplex congenita whistling face 11.9
6 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.9
7 hemangiomas, cavernous, of face and supraumbilical midline raphe 11.8
8 mental retardation, microcephaly, epilepsy, and coarse face 11.8
9 cavernous hemangioma of face 11.8
10 brachydactyly small stature face anomalies 11.8
11 coarse face hypotonia constipation 11.8
12 short limbs abnormal face congenital heart disease 11.8
13 short stature dysmorphic face pelvic scapula dysplasia 11.8
14 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.8
15 arthrogryposis, distal, type 2a 11.8
16 frontonasal dysplasia 1 11.8
17 robinow syndrome 11.6
18 fountain syndrome 11.6
19 prosopagnosia, hereditary 11.6
20 robinow syndrome, autosomal dominant 1 11.6
21 cold-induced sweating syndrome 1 11.4
22 prosopagnosia 11.4
23 sonoda syndrome 11.4
24 phace syndrome 11.4
25 velocardiofacial syndrome 11.3
26 fryns syndrome 11.3
27 three m syndrome 1 11.3
28 langerhans cell histiocytosis 11.3
29 floating-harbor syndrome 11.2
30 trigeminal neuralgia 11.2
31 battaglia-neri syndrome 11.2
32 trichostasis spinulosa 11.2
33 crouzon syndrome 11.2
34 treacher collins syndrome 1 11.1
35 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 11.1
36 conotruncal heart malformations 11.1
37 facial dermoid cyst 11.1
38 hemifacial spasm 11.1
39 lethal midline granuloma 11.1
40 rosacea 11.0
41 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.0
42 kozlowski-krajewska syndrome 11.0
43 zerres rietschel majewski syndrome 11.0
44 sturge-weber syndrome 11.0
45 bell's palsy 11.0
46 tremor 11.0
47 rubella 11.0
48 retinoschisis 1, x-linked, juvenile 11.0
49 pilomatrixoma 11.0
50 hemifacial myohyperplasia 11.0

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:

53
Skin Nails Hair Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

Hematology:
anemia
pancytopenia
thrombocytopenia
neutropenia
leukemia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hypergonadotropic hypogonadism

Head And Neck Ears:
deafness
ear anomaly

Growth Weight:
low birth weight

Neurologic Central Nervous System:
psychomotor retardation

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 Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
Cardiovascular Heart:
congenital heart defect

Skeletal Limbs:
radial aplasia

Growth Height:
small stature

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb


Clinical features from OMIM:

600901

Human phenotypes related to Fanconi Anemia, Complementation Group E:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 anemic pallor 31 HP:0001017
2 intellectual disability 31 HP:0001249
3 hearing impairment 31 HP:0000365
4 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 short stature 31 HP:0004322
7 anemia 31 HP:0001903
8 pancytopenia 31 HP:0001876
9 ectopic kidney 31 HP:0000086
10 strabismus 31 HP:0000486
11 cryptorchidism 31 HP:0000028
12 horseshoe kidney 31 HP:0000085
13 thrombocytopenia 31 HP:0001873
14 microphthalmia 31 HP:0000568
15 hypergonadotropic hypogonadism 31 HP:0000815
16 neutropenia 31 HP:0001875
17 bruising susceptibility 31 HP:0000978
18 abnormality of skin pigmentation 31 HP:0001000
19 complete duplication of thumb phalanx 31 HP:0009943
20 renal agenesis 31 HP:0000104
21 cafe-au-lait spot 31 HP:0000957
22 absent radius 31 HP:0003974
23 small for gestational age 31 HP:0001518
24 duplicated collecting system 31 HP:0000081
25 abnormal heart morphology 31 HP:0001627
26 short thumb 31 HP:0009778
27 leukemia 31 HP:0001909
28 absent thumb 31 HP:0009777
29 reticulocytopenia 31 HP:0001896
30 deficient excision of uv-induced pyrimidine dimers in dna 31 HP:0003213
31 prolonged g2 phase of cell cycle 31 HP:0003214
32 chromosomal breakage induced by crosslinking agents 31 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:

25
# 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

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 FANCG FANCA FANCC FANCD2 FANCF
2 endocrine/exocrine gland MP:0005379 9.35 FANCA FANCC FANCD2 FANCF FANCG
3 reproductive system MP:0005389 9.02 FANCA FANCC FANCD2 FANCF FANCG

Drugs & Therapeutics for Fanconi Anemia, Complementation Group E

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group E 28 FANCE
2 Abnormality of the Face 28

Anatomical Context for Fanconi Anemia, Complementation Group E

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

38
Skin, Eye, Bone, Bone Marrow, Kidney, Heart

Publications for Fanconi Anemia, Complementation Group E

Articles related to Fanconi Anemia, Complementation Group E:

# 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
# 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:

# 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)
# 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 regulation of DNA binding transcription factor activity GO:0051090 9.46 FANCA FANCD2
6 neuronal stem cell population maintenance GO:0097150 9.43 FANCC FANCD2
7 DNA repair GO:0006281 9.43 FANCA FANCC FANCD2 FANCE FANCF FANCG
8 gamete generation GO:0007276 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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