MCID: FNC043
MIFTS: 42

Fanconi Anemia, Complementation Group E malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Fanconi Anemia, Complementation Group E

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NIH Rare Diseases:41 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

MalaCards based summary: Fanconi Anemia, Complementation Group E, also known as friedman-goodman syndrome, is related to velocardiofacial syndrome and conotruncal heart malformations, 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 BRCA1 Pathway and Fanconi anemia pathway. The compounds diepoxybutane and mitomycin c have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone marrow, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

OMIM:45 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and... (600901) more...

Aliases & Classifications for Fanconi Anemia, Complementation Group E

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Fanconi Anemia, Complementation Group E, Aliases & Descriptions:

Name: Fanconi Anemia, Complementation Group E 45 10 22
Friedman-Goodman Syndrome 41 47
Faces Syndrome 41 47
 
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 41
Friedman Goodman Syndrome 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


External Ids:

OMIM45 600901
Orphanet47 1969
MESH via Orphanet34 C536384
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet61 C2931183

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 39)
idRelated DiseaseScoreTop Affiliating Genes
1velocardiofacial syndrome10.3
2conotruncal heart malformations10.2
3robinow syndrome10.2
4distal arthrogryposis10.1
5whistling face syndrome, recessive form10.1
63-m syndrome 110.0
7dysostosis10.0
8alpha-thalassemia x-linked intellectual disability syndrome10.0
9rheumatoid arthritis9.8
10robinow syndrome, autosomal dominant9.8
11hyperprolactinemia9.8
12williams-beuren syndrome9.8
13smith-lemli-opitz syndrome9.8
14arthrogryposis, distal, type 2a9.8
15digeorge syndrome9.8
16rubinstein-taybi syndrome9.8
17arthritis9.8
18holoprosencephaly9.8
19hydrocephalus9.8
20choanal atresia9.8
21juvenile rheumatoid arthritis9.8
22adenoid hypertrophy9.8
23ror2-related robinow syndrome9.8
24acromegaloid hypertrichosis syndrome9.8
25agenesis of the corpus callosum9.8
26encephalocele9.8
27growth hormone deficiency9.8
28microtia9.8
29isolated growth hormone deficiency9.8
30dysphagia9.8
31hypersomnia9.8
32basal encephalocele9.8
33precursor t-cell acute lymphoblastic leukemia9.8FANCA, FANCG
34aplastic anemia9.5FANCC, FANCF, FANCE, FANCA
35tongue squamous cell carcinoma9.5FANCC, FANCG, FANCA
36fanconi anemia, complementation group a9.2FANCC, FANCF, FANCE, FANCG, FANCA
37squamous cell carcinoma, head and neck9.2FANCA, FANCG, FANCE, FANCF, FANCC
38deficiency anemia9.2FANCC, FANCF, FANCE, FANCG, FANCA
39breast cancer9.1FANCC, FANCF, FANCE, FANCG, FANCA

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:

 47 (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 amyotrophy typical (50%) HP:0003202
17 abnormal 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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Drug clinical trials:

Search ClinicalTrials for Fanconi Anemia, Complementation Group E

Search NIH Clinical Center for Fanconi Anemia, Complementation Group E

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 E22

Anatomical Context for Fanconi Anemia, Complementation Group E

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

31
Skin, Eye, Bone marrow, Bone, 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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5FANCA, FANCG, FANCC
2MP:00053798.2FANCA, FANCG, FANCC

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:

6
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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Compounds for genes affiliated with Fanconi Anemia, Complementation Group E

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Sources:
43Novoseek
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Compounds related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1diepoxybutane438.5FANCA, FANCG, FANCC
2mitomycin c437.2FANCA, FANCG, FANCE, FANCF, FANCC

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
1nucleoplasmGO:00056547.5FANCF, FANCE, FANCG, FANCA, FANCC
2Fanconi anaemia nuclear complexGO:00432407.2FANCA, FANCG, FANCE, FANCF, FANCC

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

idNameGO IDScoreTop Affiliating Genes
1protein complex assemblyGO:00064619.1FANCA, FANCC
2DNA repairGO:00062817.2FANCA, FANCG, FANCE, FANCF, FANCC

Products for genes affiliated with Fanconi Anemia, Complementation Group E

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fanconi Anemia, Complementation Group E

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet