MCID: FNC043
MIFTS: 45

Fanconi Anemia, Complementation Group E malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Fanconi Anemia, Complementation Group E

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Sources:
49OMIM, 11diseasecard, 24GTR, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Fanconi Anemia, Complementation Group E:

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

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 friedman-goodman syndrome, is related to aplastic anemia and fanconi anemia, complementation group a, 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 eye, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

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 all 46)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia28.6FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
2fanconi anemia, complementation group a10.6
3fance-related fanconi anemia10.3
4velocardiofacial syndrome10.3
5conotruncal heart malformations10.2
6robinow syndrome10.2
7distal arthrogryposis10.1
8whistling face syndrome, recessive form10.1
9leiomyoma10.1
109q22.3 microdeletion10.1
113-m syndrome 110.1
12alpha-thalassemia x-linked intellectual disability syndrome10.1
13dysostosis10.0
14rheumatoid arthritis9.8
15robinow syndrome, autosomal dominant 19.8
16hyperprolactinemia9.8
17williams-beuren syndrome9.8
18robinow syndrome, autosomal recessive9.8
19smith-lemli-opitz syndrome9.8
20rubinstein-taybi syndrome9.8
21arthrogryposis, distal, type 2a9.8
22arthritis9.8
23holoprosencephaly9.8
24hydrocephalus9.8
25choanal atresia9.8
26adenoid hypertrophy9.8
27juvenile rheumatoid arthritis9.8
28autosomal dominant robinow syndrome9.8
29ror2-related robinow syndrome9.8
30acromegaloid hypertrichosis syndrome9.8
31encephalocele9.8
32growth hormone deficiency9.8
33isolated growth hormone deficiency9.8
34microtia9.8
35dysphagia9.8
36hypersomnia9.8
37basal encephalocele9.8
38juvenile glaucoma9.6FANCA, FANCC, FANCG
39chancroid9.5FANCA, FANCC, FANCG
40familial capillaro-venous leptomeningeal angiomatosis9.4FANCD2, FANCE, FANCF, FANCG
41fanconi anemia, complementation group f9.2FANCA, FANCC, FANCD2, FANCF, FANCG
42fanconi anemia, complementation group e9.1FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
43chondrodysplasia punctata, x-linked recessive9.1FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
44congenital mesoblastic nephroma9.1FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
45tendinitis9.0FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
46mental retardation, autosomal recessive 459.0FANCA, 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

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 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 microphthalmos 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 malformation of the heart and great vessels HP:0002564
44 deficient excision of uv-induced pyrimidine dimers in dna HP:0003213
45 prolonged g2 phase of cell cycle HP:0003214
46 chromosomal breakage induced by crosslinking agents HP:0003221
47 absent radius HP:0003974
48 short stature HP:0004322
49 absent thumb HP:0009777
50 short thumb HP:0009778
51 complete duplication of thumb phalanx HP:0009943

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 11108

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 E24

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, Eye, Bone marrow, Kidney, Thyroid, Heart

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
1MP:00053798.2FANCA, FANCC, FANCD2, FANCG
2MP:00053897.9FANCA, 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
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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Cellular components related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:00432408.3FANCA, 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 7)
idNameGO IDScoreTop Affiliating Genes
1protein complex assemblyGO:00064619.7FANCA, FANCC
2mitophagy in response to mitochondrial depolarizationGO:00987799.6FANCC, FANCF
3gamete generationGO:00072769.5FANCC, FANCD2
4ovarian follicle developmentGO:00015419.2FANCF, FANCG
5cellular response to DNA damage stimulusGO:00069748.5FANCD2, FANCF, FANCG
6interstrand cross-link repairGO:00362977.3FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG
7DNA repairGO:00062816.8FANCA, FANCC, FANCD2, FANCE, FANCF, 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