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 57 29 13 6 40 73
Fance 57 12 75
Fanconi Anemia Complementation Group E 12 75
Abnormality of the Face 29 6
Faces Syndrome 76 53
Face 57 12
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 53
Friedman-Goodman Syndrome 53
Friedman Goodman Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fanconi anemia, complementation group e:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group E

UniProtKB/Swiss-Prot : 75 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 An important gene associated with Fanconi Anemia, Complementation Group E is FANCE (FA 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 cryptorchidism and duplicated collecting system

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

NIH Rare Diseases : 53 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.

OMIM : 57 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)

Wikipedia : 76 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 1592)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 25.6 FANCA FANCC FANCD2 FANCE FANCF FANCG
2 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.2
3 whistling face syndrome, recessive form 12.0
4 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.9
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 robinow syndrome, autosomal dominant 1 11.6
20 crisponi/cold-induced sweating syndrome 1 11.4
21 prosopagnosia 11.4
22 sonoda syndrome 11.4
23 prosopagnosia, hereditary 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 herpes zoster 11.0
47 tremor 11.0
48 rubella 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:

57
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

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

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

Hematology:
anemia
pancytopenia
thrombocytopenia
neutropenia
leukemia
more
GenitourinaryInternal GenitaliaMale:
cryptorchidism

Endocrine Features:
hypergonadotropic hypogonadism

Head And Neck Ears:
deafness
ear anomaly

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:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 duplicated collecting system 32 HP:0000081
3 horseshoe kidney 32 HP:0000085
4 ectopic kidney 32 HP:0000086
5 renal agenesis 32 HP:0000104
6 microcephaly 32 HP:0000252
7 hearing impairment 32 HP:0000365
8 strabismus 32 HP:0000486
9 microphthalmia 32 HP:0000568
10 hypergonadotropic hypogonadism 32 HP:0000815
11 cafe-au-lait spot 32 HP:0000957
12 bruising susceptibility 32 HP:0000978
13 abnormality of skin pigmentation 32 HP:0001000
14 anemic pallor 32 HP:0001017
15 intellectual disability 32 HP:0001249
16 global developmental delay 32 HP:0001263
17 small for gestational age 32 HP:0001518
18 abnormal heart morphology 32 HP:0001627
19 thrombocytopenia 32 HP:0001873
20 neutropenia 32 HP:0001875
21 pancytopenia 32 HP:0001876
22 reticulocytopenia 32 HP:0001896
23 anemia 32 HP:0001903
24 leukemia 32 HP:0001909
25 deficient excision of uv-induced pyrimidine dimers in dna 32 HP:0003213
26 prolonged g2 phase of cell cycle 32 HP:0003214
27 chromosomal breakage induced by crosslinking agents 32 HP:0003221
28 absent radius 32 HP:0003974
29 short stature 32 HP:0004322
30 absent thumb 32 HP:0009777
31 short thumb 32 HP:0009778
32 complete duplication of thumb phalanx 32 HP:0009943
33 abnormality of cardiovascular system morphology 32 HP:0030680

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
# 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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 FANCA FANCC FANCD2 FANCF FANCG
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 29 FANCE
2 Abnormality of the Face 29

Anatomical Context for Fanconi Anemia, Complementation Group E

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

41
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
(show top 50) (show all 120)
# 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.355C> T (p.Gln119Ter) single nucleotide variant Pathogenic rs121434505 GRCh38 Chromosome 6, 35455853: 35455853
3 FANCE NM_021922.2(FANCE): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs121434506 GRCh37 Chromosome 6, 35423696: 35423696
4 FANCE NM_021922.2(FANCE): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs121434506 GRCh38 Chromosome 6, 35455919: 35455919
5 FANCE NG_011708.1: g.11963G> A single nucleotide variant Pathogenic rs878854342 GRCh37 Chromosome 6, 35427100: 35427100
6 FANCE NG_011708.1: g.11963G> A single nucleotide variant Pathogenic rs878854342 GRCh38 Chromosome 6, 35459323: 35459323
7 FANCE NM_021922.2(FANCE): c.736_738delGGA (p.Gly246del) deletion Benign/Likely benign rs45451605 GRCh38 Chromosome 6, 35456234: 35456236
8 FANCE NM_021922.2(FANCE): c.736_738delGGA (p.Gly246del) deletion Benign/Likely benign rs45451605 GRCh37 Chromosome 6, 35424011: 35424013
9 FANCE NM_021922.2(FANCE): c.1572G> A (p.Arg524=) single nucleotide variant Conflicting interpretations of pathogenicity rs115195341 GRCh38 Chromosome 6, 35466306: 35466306
10 FANCE NM_021922.2(FANCE): c.1572G> A (p.Arg524=) single nucleotide variant Conflicting interpretations of pathogenicity rs115195341 GRCh37 Chromosome 6, 35434083: 35434083
11 FANCE NM_021922.2(FANCE): c.598C> T (p.Arg200Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs763151358 GRCh38 Chromosome 6, 35456096: 35456096
12 FANCE NM_021922.2(FANCE): c.598C> T (p.Arg200Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs763151358 GRCh37 Chromosome 6, 35423873: 35423873
13 FANCE NM_021922.2(FANCE): c.1057C> G (p.Pro353Ala) single nucleotide variant Uncertain significance rs878855070 GRCh38 Chromosome 6, 35458384: 35458384
14 FANCE NM_021922.2(FANCE): c.1057C> G (p.Pro353Ala) single nucleotide variant Uncertain significance rs878855070 GRCh37 Chromosome 6, 35426161: 35426161
15 FANCE NM_021922.2(FANCE): c.1459A> G (p.Met487Val) single nucleotide variant Uncertain significance rs373735272 GRCh37 Chromosome 6, 35430641: 35430641
16 FANCE NM_021922.2(FANCE): c.1459A> G (p.Met487Val) single nucleotide variant Uncertain significance rs373735272 GRCh38 Chromosome 6, 35462864: 35462864
17 FANCE NM_021922.2(FANCE): c.1071C> T (p.Leu357=) single nucleotide variant Benign/Likely benign rs3823434 GRCh37 Chromosome 6, 35426175: 35426175
18 FANCE NM_021922.2(FANCE): c.1071C> T (p.Leu357=) single nucleotide variant Benign/Likely benign rs3823434 GRCh38 Chromosome 6, 35458398: 35458398
19 FANCE NM_021922.2(FANCE): c.253C> T (p.Pro85Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145068586 GRCh38 Chromosome 6, 35455751: 35455751
20 FANCE NM_021922.2(FANCE): c.253C> T (p.Pro85Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145068586 GRCh37 Chromosome 6, 35423528: 35423528
21 FANCE NM_021922.2(FANCE): c.1424A> G (p.Lys475Arg) single nucleotide variant Uncertain significance rs200083899 GRCh37 Chromosome 6, 35430606: 35430606
22 FANCE NM_021922.2(FANCE): c.1424A> G (p.Lys475Arg) single nucleotide variant Uncertain significance rs200083899 GRCh38 Chromosome 6, 35462829: 35462829
23 FANCE NM_021922.2(FANCE): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs886061327 GRCh38 Chromosome 6, 35452549: 35452549
24 FANCE NM_021922.2(FANCE): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs886061327 GRCh37 Chromosome 6, 35420326: 35420326
25 FANCE NM_021922.2(FANCE): c.248+7C> A single nucleotide variant Benign/Likely benign rs186563531 GRCh38 Chromosome 6, 35452800: 35452800
26 FANCE NM_021922.2(FANCE): c.248+7C> A single nucleotide variant Benign/Likely benign rs186563531 GRCh37 Chromosome 6, 35420577: 35420577
27 FANCE NM_021922.2(FANCE): c.214C> T (p.Pro72Ser) single nucleotide variant Uncertain significance rs890865684 GRCh37 Chromosome 6, 35420536: 35420536
28 FANCE NM_021922.2(FANCE): c.214C> T (p.Pro72Ser) single nucleotide variant Uncertain significance rs890865684 GRCh38 Chromosome 6, 35452759: 35452759
29 FANCE NM_021922.2(FANCE): c.1383+10C> T single nucleotide variant Likely benign rs1060504374 GRCh37 Chromosome 6, 35428405: 35428405
30 FANCE NM_021922.2(FANCE): c.1383+10C> T single nucleotide variant Likely benign rs1060504374 GRCh38 Chromosome 6, 35460628: 35460628
31 FANCE NM_021922.2(FANCE): c.210G> A (p.Glu70=) single nucleotide variant Likely benign rs1008512809 GRCh38 Chromosome 6, 35452755: 35452755
32 FANCE NM_021922.2(FANCE): c.210G> A (p.Glu70=) single nucleotide variant Likely benign rs1008512809 GRCh37 Chromosome 6, 35420532: 35420532
33 FANCE NM_021922.2(FANCE): c.311C> G (p.Ala104Gly) single nucleotide variant Uncertain significance rs773580818 GRCh38 Chromosome 6, 35455809: 35455809
34 FANCE NM_021922.2(FANCE): c.311C> G (p.Ala104Gly) single nucleotide variant Uncertain significance rs773580818 GRCh37 Chromosome 6, 35423586: 35423586
35 FANCE NM_021922.2(FANCE): c.397C> T (p.Leu133Phe) single nucleotide variant Uncertain significance rs759124595 GRCh38 Chromosome 6, 35455895: 35455895
36 FANCE NM_021922.2(FANCE): c.397C> T (p.Leu133Phe) single nucleotide variant Uncertain significance rs759124595 GRCh37 Chromosome 6, 35423672: 35423672
37 FANCE NM_021922.2(FANCE): c.436G> T (p.Val146Leu) single nucleotide variant Uncertain significance rs755204532 GRCh38 Chromosome 6, 35455934: 35455934
38 FANCE NM_021922.2(FANCE): c.436G> T (p.Val146Leu) single nucleotide variant Uncertain significance rs755204532 GRCh37 Chromosome 6, 35423711: 35423711
39 FANCE NM_021922.2(FANCE): c.812C> T (p.Ala271Val) single nucleotide variant Uncertain significance rs1060501874 GRCh38 Chromosome 6, 35456310: 35456310
40 FANCE NM_021922.2(FANCE): c.812C> T (p.Ala271Val) single nucleotide variant Uncertain significance rs1060501874 GRCh37 Chromosome 6, 35424087: 35424087
41 FANCE NM_021922.2(FANCE): c.1310T> C (p.Met437Thr) single nucleotide variant Benign rs142903218 GRCh37 Chromosome 6, 35427531: 35427531
42 FANCE NM_021922.2(FANCE): c.1310T> C (p.Met437Thr) single nucleotide variant Benign rs142903218 GRCh38 Chromosome 6, 35459754: 35459754
43 FANCE NM_021922.2(FANCE): c.1464C> T (p.Ala488=) single nucleotide variant Likely benign rs779775366 GRCh37 Chromosome 6, 35430646: 35430646
44 FANCE NM_021922.2(FANCE): c.1464C> T (p.Ala488=) single nucleotide variant Likely benign rs779775366 GRCh38 Chromosome 6, 35462869: 35462869
45 FANCE NM_021922.2(FANCE): c.1116C> T (p.Ile372=) single nucleotide variant Likely benign rs143234424 GRCh37 Chromosome 6, 35427110: 35427110
46 FANCE NM_021922.2(FANCE): c.1116C> T (p.Ile372=) single nucleotide variant Likely benign rs143234424 GRCh38 Chromosome 6, 35459333: 35459333
47 FANCE NM_021922.2(FANCE): c.1588G> A (p.Ala530Thr) single nucleotide variant Uncertain significance rs377415237 GRCh37 Chromosome 6, 35434099: 35434099
48 FANCE NM_021922.2(FANCE): c.1588G> A (p.Ala530Thr) single nucleotide variant Uncertain significance rs377415237 GRCh38 Chromosome 6, 35466322: 35466322
49 FANCE NM_021922.2(FANCE): c.31G> A (p.Ala11Thr) single nucleotide variant Uncertain significance rs753304968 GRCh37 Chromosome 6, 35420353: 35420353
50 FANCE NM_021922.2(FANCE): c.31G> A (p.Ala11Thr) single nucleotide variant Uncertain significance rs753304968 GRCh38 Chromosome 6, 35452576: 35452576

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-containing complex assembly GO:0065003 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
17 ExPASy
19 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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