MCID: FNC043
MIFTS: 43

Fanconi Anemia, Complementation Group E malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group E

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Sources:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all MalaCards sources

Aliases & Descriptions for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 49 11 65
Fanconi Anemia Complementation Group E 67 24
Friedman-Goodman Syndrome 45 51
Faces Syndrome 45 51
 
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 45
Friedman Goodman Syndrome 45
Fance 67

Classifications:



External Ids:

OMIM49 600901
Orphanet51 1969
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C536384
UMLS via Orphanet66 C2931183
MedGen34 C3160739
MeSH36 D005199
UMLS65 C3160739

Summaries for Fanconi Anemia, Complementation Group E

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UniProtKB/Swiss-Prot:67 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 and bone marrow.

NIH Rare Diseases:45 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:49 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 top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1fance-related fanconi anemia12.6
2whistling face syndrome, recessive form12.2
3fanconi anemia, complementation group a11.9
4velocardiofacial syndrome11.8
5conotruncal heart malformations11.5
6squamous cell carcinoma, head and neck11.5
7fanconi anemia, complementation group b11.5
8congenital hypoplastic anemia11.5
9robinow syndrome11.4
103-m syndrome 111.4
11distal arthrogryposis11.4
12alpha-thalassemia x-linked intellectual disability syndrome11.4
13arthrogryposis multiplex congenita whistling face11.3
14robinow syndrome, autosomal dominant 111.1
15robinow syndrome, autosomal recessive11.1
16autosomal dominant robinow syndrome11.1
17ror2-related robinow syndrome11.1
18acromegaloid hypertrichosis syndrome11.1
19lymphoma10.4
20myocardial infarction10.3
21b-cell lymphomas10.3
22diffuse large b-cell lymphoma10.3
23peripheral t-cell lymphoma10.3
24pituitary apoplexy10.3
25hypogonadism10.3
26hypogonadotropism10.3
27aneurysm10.3
28epispadias10.3
29alport syndrome10.2
30arthrogryposis, distal, type 2a10.1
31digeorge syndrome10.0
32adenoid hypertrophy10.0
33neural tube defects9.8
34prostate cancer9.8
35breast cancer9.8
36obesity9.8
37renal cell carcinoma9.8
38spinal muscular atrophy9.8
39oral squamous cell carcinoma9.8
40prostatitis9.8
41hereditary angioedema9.8
42angioedema9.8
43acute pancreatitis9.8
44glioblastoma multiforme9.8
45retinitis9.8
46tuberculosis9.8
47pancreatitis9.8
48muscular atrophy9.8
49neuronitis9.8
50leishmaniasis9.8

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

Symptoms:

 51 (show all 21)
  • ptosis
  • bifid tip/cleft nose/supernumerary nose
  • anteverted nares/nostrils
  • syndactyly of fingers/interdigital palm
  • genu varum
  • autosomal dominant inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • retinitis pigmentosa/retinal pigmentary changes
  • short palate
  • asymmetric rib cage/thorax
  • pectus excavatum
  • kyphosis
  • scoliosis
  • pigmented naevi/naevus pigmentosus/lentigo
  • cafe-au-lait spot
  • abnormal cry/voice/phonation disorder/nasal speech
  • thyroid anomalies
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly

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 abnormality of cardiovascular system morphology HP:0030680
22 complete duplication of thumb phalanx HP:0009943
23 short thumb HP:0009778
24 absent thumb HP:0009777
25 short stature HP:0004322
26 absent radius HP:0003974
27 chromosomal breakage induced by crosslinking agents HP:0003221
28 prolonged g2 phase of cell cycle HP:0003214
29 deficient excision of uv-induced pyrimidine dimers in dna HP:0003213
30 leukemia HP:0001909
31 anemia HP:0001903
32 reticulocytopenia HP:0001896
33 pancytopenia HP:0001876
34 neutropenia HP:0001875
35 thrombocytopenia HP:0001873
36 small for gestational age HP:0001518
37 intellectual disability HP:0001249
38 anemic pallor HP:0001017
39 abnormality of skin pigmentation HP:0001000
40 bruising susceptibility HP:0000978
41 cafe-au-lait spot HP:0000957
42 hypergonadotropic hypogonadism HP:0000815
43 microphthalmia HP:0000568
44 strabismus HP:0000486
45 hearing impairment HP:0000365
46 microcephaly HP:0000252
47 renal agenesis HP:0000104
48 ectopic kidney HP:0000086
49 horseshoe kidney HP:0000085
50 duplicated collecting system HP:0000081
51 cryptorchidism HP:0000028

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 11134

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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Anatomical Context for Fanconi Anemia, Complementation Group E

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

33
Skin, Bone, Bone marrow, Eye, Kidney, Thyroid, Skeletal muscle

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Fanconi Anemia, Complementation Group E

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Articles related to Fanconi Anemia, Complementation Group E:

idTitleAuthorsYear
1
Bleeding and thrombosis in a patient with primary antiphospholipid syndrome using norethisterone: a case report. (25895835)
2015
2
Peroxisome proliferator-activated receptor alpha protects against alcohol-induced liver damage. (15382117)
2004

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
3FANCEFANCE, IVS5AS, G-A, -8single nucleotide variantPathogenic

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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Biological processes related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interstrand cross-link repairGO:00362979.1FANCF, FANCG
2ovarian follicle developmentGO:00015419.0FANCF, FANCG

Sources for Fanconi Anemia, Complementation Group E

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet