FANCS
MCID: FNC062
MIFTS: 29

Fanconi Anemia, Complementation Group S (FANCS)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group S

MalaCards integrated aliases for Fanconi Anemia, Complementation Group S:

Name: Fanconi Anemia, Complementation Group S 57 72 29 6 39
Fancs 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group S

OMIM® : 57 Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (617883) (Updated 05-Apr-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group S, is also known as fancs. An important gene associated with Fanconi Anemia, Complementation Group S is BRCA1 (BRCA1 DNA Repair Associated). Affiliated tissues include bone marrow, breast and bone, and related phenotypes are proximal placement of thumb and intellectual disability

UniProtKB/Swiss-Prot : 72 Fanconi anemia, complementation group S: A form of Fanconi anemia, 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.

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group S

Human phenotypes related to Fanconi Anemia, Complementation Group S:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 proximal placement of thumb 31 very rare (1%) HP:0009623
2 intellectual disability 31 HP:0001249
3 failure to thrive 31 HP:0001508
4 coarse facial features 31 HP:0000280
5 global developmental delay 31 HP:0001263
6 narrow palate 31 HP:0000189
7 hypertelorism 31 HP:0000316
8 dental malocclusion 31 HP:0000689
9 delayed speech and language development 31 HP:0000750
10 microcephaly 31 HP:0000252
11 anteverted nares 31 HP:0000463
12 short stature 31 HP:0004322
13 anemia 31 HP:0001903
14 epicanthus 31 HP:0000286
15 upslanted palpebral fissure 31 HP:0000582
16 microphthalmia 31 HP:0000568
17 low anterior hairline 31 HP:0000294
18 prominent nasal bridge 31 HP:0000426
19 blepharophimosis 31 HP:0000581
20 breast carcinoma 31 HP:0003002
21 long eyelashes 31 HP:0000527
22 ovarian neoplasm 31 HP:0100615
23 sparse hair 31 HP:0008070
24 macrodontia 31 HP:0001572
25 thick upper lip vermilion 31 HP:0000215
26 clinodactyly 31 HP:0030084
27 chromosome breakage 31 HP:0040012

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
developmental delay
speech delay

Head And Neck Mouth:
narrow palate
thick upper lip

Head And Neck Teeth:
dental malocclusion
large teeth

Growth Height:
short stature

Head And Neck Nose:
prominent nasal bridge
small alae nasi
anteverted nose

Head And Neck Face:
coarse facies
dysmorphic features, variable
macrognathia

Laboratory Abnormalities:
increased chromosomal breakage

Head And Neck Ears:
thick earlobes

Hematology:
anemia (when stressed, in some patients)

Growth Other:
failure to thrive
poor overall growth

Head And Neck Eyes:
hypertelorism
microphthalmia
blepharophimosis
long eyelashes
epicanthal folds
more
Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
low anterior hairline
sparse hair

Skeletal Hands:
clinodactyly
proximally placed thumbs (in some patients)

Neoplasia:
breast cancer
ovarian cancer
increased susceptibility to cancer

Skin Nails Hair Skin:
pigmentary abnormalities

Skeletal Limbs:
radial ray anomalies (in some patients)
hyperextensible knees

Clinical features from OMIM®:

617883 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fanconi Anemia, Complementation Group S

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group S

Genetic Tests for Fanconi Anemia, Complementation Group S

Genetic tests related to Fanconi Anemia, Complementation Group S:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group S 29 BRCA1

Anatomical Context for Fanconi Anemia, Complementation Group S

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

40
Bone Marrow, Breast, Bone

Publications for Fanconi Anemia, Complementation Group S

Articles related to Fanconi Anemia, Complementation Group S:

(show all 25)
# Title Authors PMID Year
1
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 6 57 61
25472942 2015
2
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 6 57
29712865 2018
3
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 6 57
29133208 2018
4
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. 6 57
23269703 2013
5
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 6 57
11157798 2001
6
Accurate classification of BRCA1 variants with saturation genome editing. 6
30209399 2018
7
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 6
25186627 2015
8
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 6
24504028 2014
9
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 6
21324516 2011
10
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. 6
9482581 1998
11
DNA-Engineerable Ultraflat-Faceted Core-Shell Nanocuboids with Strong, Quantitative Plasmon-Enhanced Fluorescence Signals for Sensitive, Reliable MicroRNA Detection. 61
33596085 2021
12
Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. 61
32488392 2020
13
Development of luminescent atacamite nanoclusters for bioimaging and photothermal applications. 61
32150736 2020
14
Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic Targets. 61
32300589 2020
15
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
16
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. 61
28837162 2018
17
Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers. 61
28631178 2017
18
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. 61
27760710 2017
19
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
20
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
21
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
22
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. 61
26119737 2015
23
Rad18-mediated translesion synthesis of bulky DNA adducts is coupled to activation of the Fanconi anemia DNA repair pathway. 61
20675655 2010
24
FANCs regulate firing of DNA replication origins. 61
20647748 2010
25
The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways. 61
14988723 2004

Variations for Fanconi Anemia, Complementation Group S

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group S:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRCA1 NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) SNV Pathogenic 54187 rs80357346 GRCh37: 17:41246256-41246256
GRCh38: 17:43094239-43094239
2 BRCA1 NM_007294.4(BRCA1):c.2457del (p.Asp821fs) Deletion Pathogenic 37471 rs80357669 GRCh37: 17:41245091-41245091
GRCh38: 17:43093074-43093074
3 BRCA1 NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) SNV Pathogenic 37648 rs45553935 GRCh37: 17:41209139-41209139
GRCh38: 17:43057122-43057122
4 BRCA1 NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) SNV Pathogenic 55221 rs80356885 GRCh37: 17:41226499-41226499
GRCh38: 17:43074482-43074482
5 BRCA1 NM_007294.4(BRCA1):c.4485-1G>A SNV Pathogenic 55213 rs80358189 GRCh37: 17:41226539-41226539
GRCh38: 17:43074522-43074522
6 BRCA1 NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) SNV Pathogenic 55039 rs80357440 GRCh37: 17:41243655-41243655
GRCh38: 17:43091638-43091638
7 BRCA1 NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) SNV Pathogenic 54929 rs62625307 GRCh37: 17:41243950-41243950
GRCh38: 17:43091933-43091933
8 BRCA1 NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) SNV Pathogenic 54565 rs80357350 GRCh37: 17:41256945-41256945
GRCh38: 17:43104928-43104928
9 BRCA1 NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) SNV Pathogenic 54200 rs80357446 GRCh37: 17:41267746-41267746
GRCh38: 17:43115729-43115729
10 BRCA1 NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) SNV Pathogenic 479243 rs886040898 GRCh37: 17:41267760-41267760
GRCh38: 17:43115743-43115743
11 BRCA1 NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) SNV Pathogenic 55072 rs80357475 GRCh37: 17:41276111-41276111
GRCh38: 17:43124094-43124094
12 BRCA1 NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) SNV Pathogenic 495221 rs1555589094 GRCh37: 17:41244839-41244839
GRCh38: 17:43092822-43092822
13 BRCA1 NM_007294.3(BRCA1):c.594_597delTGTG Deletion Pathogenic 209105 rs797045175 GRCh37: 17:41247936-41247939
GRCh38: 17:43095919-43095922
14 BRCA1 NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) SNV Pathogenic 91620 rs80357202 GRCh37: 17:41243494-41243494
GRCh38: 17:43091477-43091477
15 BRCA1 NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) SNV Pathogenic 54769 rs273899698 GRCh37: 17:41244451-41244451
GRCh38: 17:43092434-43092434
16 BRCA1 NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) SNV Pathogenic 266592 rs879255498 GRCh37: 17:41246623-41246623
GRCh38: 17:43094606-43094606
17 BRCA1 NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) SNV Pathogenic 54131 rs80356880 GRCh37: 17:41267767-41267767
GRCh38: 17:43115750-43115750
18 BRCA1 NM_007294.3(BRCA1):c.5194-12G>A SNV Pathogenic 55451 rs80358079 GRCh37: 17:41209164-41209164
GRCh38: 17:43057147-43057147
19 BRCA1 NM_007294.4(BRCA1):c.4675+1G>A SNV Pathogenic 55256 rs80358044 GRCh37: 17:41226347-41226347
GRCh38: 17:43074330-43074330
20 BRCA1 NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) SNV Pathogenic 17675 rs41293455 GRCh37: 17:41234451-41234451
GRCh38: 17:43082434-43082434
21 BRCA1 NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) SNV Pathogenic 54657 rs80356978 GRCh37: 17:41244826-41244826
GRCh38: 17:43092809-43092809
22 BRCA1 NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) SNV Pathogenic 37426 rs80356898 GRCh37: 17:41245861-41245861
GRCh38: 17:43093844-43093844
23 BRCA1 NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) SNV Pathogenic 17693 rs80357382 GRCh37: 17:41258474-41258474
GRCh38: 17:43106457-43106457
24 BRCA1 NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) SNV Pathogenic 17661 rs28897672 GRCh37: 17:41258504-41258504
GRCh38: 17:43106487-43106487
25 BRCA1 NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) SNV Pathogenic 55580 rs80356962 GRCh37: 17:41199683-41199683
GRCh38: 17:43047666-43047666
26 BRCA1 NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) SNV Pathogenic 55480 rs80357123 GRCh37: 17:41209095-41209095
GRCh38: 17:43057078-43057078
27 BRCA1 NM_007294.4(BRCA1):c.2071del (p.Arg691fs) Deletion Pathogenic 37444 rs80357688 GRCh37: 17:41245477-41245477
GRCh38: 17:43093460-43093460
28 BRCA1 NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) SNV Pathogenic 54134 rs397508838 GRCh37: 17:41246433-41246433
GRCh38: 17:43094416-43094416
29 BRCA1 NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) SNV Pathogenic 55396 rs55770810 GRCh37: 17:41215948-41215948
GRCh38: 17:43063931-43063931
30 BRCA1 NM_007294.4(BRCA1):c.122A>T (p.His41Leu) SNV Likely pathogenic 230862 rs80357276 GRCh37: 17:41267755-41267755
GRCh38: 17:43115738-43115738
31 BRCA1 NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) SNV Uncertain significance 496362 rs80357386 GRCh37: 17:41244468-41244468
GRCh38: 17:43092451-43092451
32 BRCA1 NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) SNV Uncertain significance 230920 rs876658843 GRCh37: 17:41244885-41244885
GRCh38: 17:43092868-43092868
33 BRCA1 NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) SNV Uncertain significance 54447 rs397508934 GRCh37: 17:41245498-41245498
GRCh38: 17:43093481-43093481
34 BRCA1 NM_007294.3(BRCA1):c.4096+3A>G SNV Uncertain significance 37566 rs80358015 GRCh37: 17:41243449-41243449
GRCh38: 17:43091432-43091432
35 BRCA1 NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) SNV Uncertain significance 55739 rs80357039 GRCh37: 17:41246697-41246697
GRCh38: 17:43094680-43094680
36 BRCA1 NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) SNV Uncertain significance 240792 rs80357136 GRCh37: 17:41244145-41244145
GRCh38: 17:43092128-43092128
37 BRCA1 NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) SNV Uncertain significance 531214 rs1555588389 GRCh37: 17:41244444-41244444
GRCh38: 17:43092427-43092427
38 BRCA1 NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) SNV Uncertain significance 185698 rs786202386 GRCh37: 17:41245803-41245803
GRCh38: 17:43093786-43093786
39 BRCA1 NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) SNV Uncertain significance 54227 rs62625300 GRCh37: 17:41246167-41246167
GRCh38: 17:43094150-43094150
40 BRCA1 NM_007294.4(BRCA1):c.527C>T (p.Thr176Met) SNV Uncertain significance 409326 rs587782747 GRCh37: 17:41251812-41251812
GRCh38: 17:43099795-43099795
41 BRCA1 NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) SNV Uncertain significance 37594 rs397507233 GRCh37: 17:41251893-41251893
GRCh38: 17:43099876-43099876
42 BRCA1 NM_007294.4(BRCA1):c.20G>A (p.Arg7His) SNV Uncertain significance 184875 rs144792613 GRCh37: 17:41276094-41276094
GRCh38: 17:43124077-43124077
43 BRCA1 NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) SNV Uncertain significance 141804 rs587782026 GRCh37: 17:41197817-41197817
GRCh38: 17:43045800-43045800
44 BRCA1 NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) SNV Uncertain significance 55370 rs397507239 GRCh37: 17:41219631-41219631
GRCh38: 17:43067614-43067614
45 BRCA1 NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) SNV Uncertain significance 531444 rs1555579648 GRCh37: 17:41219643-41219643
GRCh38: 17:43067626-43067626
46 BRCA1 NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) SNV Uncertain significance 433716 rs1265352633 GRCh37: 17:41226369-41226369
GRCh38: 17:43074352-43074352
47 BRCA1 NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val) SNV Uncertain significance 141465 rs587781768 GRCh37: 17:41234547-41234547
GRCh38: 17:43082530-43082530
48 BRCA1 NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) SNV Uncertain significance 54953 rs273900712 GRCh37: 17:41243899-41243899
GRCh38: 17:43091882-43091882
49 BRCA1 NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) SNV Uncertain significance 89059 rs587779368 GRCh37: 17:41243993-41243993
GRCh38: 17:43091976-43091976
50 BRCA1 NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) SNV Uncertain significance 54878 rs80357101 GRCh37: 17:41244124-41244124
GRCh38: 17:43092107-43092107

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group S:

72
# Symbol AA change Variation ID SNP ID
1 BRCA1 p.Arg1699Trp VAR_075666 rs55770810

Expression for Fanconi Anemia, Complementation Group S

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group S.

Pathways for Fanconi Anemia, Complementation Group S

GO Terms for Fanconi Anemia, Complementation Group S

Sources for Fanconi Anemia, Complementation Group S

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11 DGIdb
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45 MESH via Orphanet
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