FANCS
MCID: FNC062
MIFTS: 34

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 56 73 29 6 39
Fancs 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group S

OMIM : 56 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)

MalaCards based summary : Fanconi Anemia, Complementation Group S, also known as fancs, is related to fanconi anemia, complementation group e and fanconi anemia, complementation group d2. An important gene associated with Fanconi Anemia, Complementation Group S is BRCA1 (BRCA1 DNA Repair Associated). Affiliated tissues include bone, bone marrow and breast, and related phenotypes are proximal placement of thumb and hypertelorism

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Fanconi Anemia, Complementation Group S

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group S via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group e 12.4
2 fanconi anemia, complementation group d2 10.6
3 fanconi anemia, complementation group a 10.6
4 fanconi anemia, complementation group c 10.4
5 deficiency anemia 10.4
6 fanconi anemia, complementation group i 10.3
7 autosomal recessive disease 10.3
8 bloom syndrome 10.2
9 aplastic anemia 10.2
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
11 basal cell nevus syndrome 10.0
12 medulloblastoma 10.0
13 immune deficiency disease 10.0
14 fanconi anemia, complementation group b 10.0
15 wilms tumor 5 10.0
16 leukemia, acute myeloid 10.0
17 meningioma, radiation-induced 10.0
18 meningioma, familial 10.0
19 fanconi anemia, complementation group j 10.0
20 leukemia, acute lymphoblastic 10.0
21 fanconi anemia, complementation group l 10.0
22 lymphocytic leukemia 10.0
23 spinal meningioma 10.0
24 common variable immunodeficiency 10.0
25 neutropenia 10.0
26 leiomyoma 10.0
27 thrombocytopenia 10.0
28 basal cell carcinoma 10.0
29 secretory meningioma 10.0
30 lymphoplasmacyte-rich meningioma 10.0
31 adenomatoid tumor 10.0
32 basal cell carcinoma, multiple 10.0
33 9q22.3 microdeletion 10.0

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group S:



Diseases related to Fanconi Anemia, Complementation Group S

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
microphthalmia
blepharophimosis
long eyelashes
epicanthal folds
more
Neurologic Central Nervous System:
intellectual disability
developmental delay
speech delay

Head And Neck Mouth:
narrow palate
thick upper lip

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)

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

Growth Other:
failure to thrive
poor overall growth

Head And Neck Teeth:
dental malocclusion
large teeth

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
low anterior hairline
sparse hair

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

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, Bone Marrow, Breast, B Cells

Publications for Fanconi Anemia, Complementation Group S

Articles related to Fanconi Anemia, Complementation Group S:

(show all 19)
# Title Authors PMID Year
1
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 56 6 61
25472942 2015
2
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 6 56
29712865 2018
3
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 6 56
29133208 2018
4
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. 56 6
23269703 2013
5
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 6 56
11157798 2001
6
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
7
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
8
Fanconi Anemia 6
20301575 2002
9
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
10
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
11
Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers. 61
28631178 2017
12
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. 61
27760710 2017
13
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
14
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
15
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
16
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. 61
26119737 2015
17
Rad18-mediated translesion synthesis of bulky DNA adducts is coupled to activation of the Fanconi anemia DNA repair pathway. 61
20675655 2010
18
FANCs regulate firing of DNA replication origins. 61
20647748 2010
19
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 all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA1 NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly)SNV Pathogenic 17661 rs28897672 17:41258504-41258504 17:43106487-43106487
2 BRCA1 NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter)SNV Pathogenic 17675 rs41293455 17:41234451-41234451 17:43082434-43082434
3 BRCA1 NM_007299.4(BRCA1):c.211A>G (p.Arg71Gly)SNV Pathogenic 17693 rs80357382 17:41258474-41258474 17:43106457-43106457
4 BRCA1 NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter)SNV Pathogenic 37426 rs80356898 17:41245861-41245861 17:43093844-43093844
5 BRCA1 NM_007294.3(BRCA1):c.2457del (p.Asp821fs)deletion Pathogenic 37471 rs80357669 17:41245091-41245091 17:43093074-43093074
6 BRCA1 NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys)SNV Pathogenic 54131 rs80356880 17:41267767-41267767 17:43115750-43115750
7 BRCA1 NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter)SNV Pathogenic 54134 rs397508838 17:41246433-41246433 17:43094416-43094416
8 BRCA1 NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter)SNV Pathogenic 54187 rs80357346 17:41246256-41246256 17:43094239-43094239
9 BRCA1 NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe)SNV Pathogenic 54200 rs80357446 17:41267746-41267746 17:43115729-43115729
10 BRCA1 NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter)SNV Pathogenic 54565 rs80357350 17:41256945-41256945 17:43104928-43104928
11 BRCA1 NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter)SNV Pathogenic 54657 rs80356978 17:41244826-41244826 17:43092809-43092809
12 BRCA1 NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter)SNV Pathogenic 54769 rs273899698 17:41244451-41244451 17:43092434-43092434
13 BRCA1 NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter)SNV Pathogenic 54929 rs62625307 17:41243950-41243950 17:43091933-43091933
14 BRCA1 NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter)SNV Pathogenic 55039 rs80357440 17:41243655-41243655 17:43091638-43091638
15 BRCA1 NM_007294.3(BRCA1):c.3G>T (p.Met1Ile)SNV Pathogenic 55072 rs80357475 17:41276111-41276111 17:43124094-43124094
16 BRCA1 NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter)SNV Pathogenic 55221 rs80356885 17:41226499-41226499 17:43074482-43074482
17 BRCA1 NM_007294.3(BRCA1):c.4675+1G>ASNV Pathogenic 55256 rs80358044 17:41226347-41226347 17:43074330-43074330
18 BRCA1 NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp)SNV Pathogenic 55396 rs55770810 17:41215948-41215948 17:43063931-43063931
19 BRCA1 NM_007294.3(BRCA1):c.5194-12G>ASNV Pathogenic 55451 rs80358079 17:41209164-41209164 17:43057147-43057147
20 BRCA1 NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter)SNV Pathogenic 55480 rs80357123 17:41209095-41209095 17:43057078-43057078
21 BRCA1 NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter)SNV Pathogenic 55580 rs80356962 17:41199683-41199683 17:43047666-43047666
22 BRCA1 NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter)SNV Pathogenic 91620 rs80357202 17:41243494-41243494 17:43091477-43091477
23 BRCA1 NM_007294.3(BRCA1):c.594_597delTGTGdeletion Pathogenic 209105 rs797045175 17:41247936-41247939 17:43095919-43095922
24 BRCA1 NM_007294.3(BRCA1):c.117T>A (p.Cys39Ter)SNV Pathogenic 479243 rs886040898 17:41267760-41267760 17:43115743-43115743
25 BRCA1 NM_007298.3(BRCA1):c.788-1790T>ASNV Pathogenic 495221 rs1555589094 17:41244839-41244839 17:43092822-43092822
26 BRCA1 NM_007294.3(BRCA1):c.925A>T (p.Lys309Ter)SNV Pathogenic 266592 rs879255498 17:41246623-41246623 17:43094606-43094606
27 BRCA1 NM_007294.3(BRCA1):c.4485-1G>ASNV Pathogenic/Likely pathogenic 55213 rs80358189 17:41226539-41226539 17:43074522-43074522
28 BRCA1 NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala)SNV Pathogenic/Likely pathogenic 37648 rs45553935 17:41209139-41209139 17:43057122-43057122
29 BRCA1 NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala)SNV Conflicting interpretations of pathogenicity 37594 rs397507233 17:41251893-41251893 17:43099876-43099876
30 BRCA1 NM_007294.3(BRCA1):c.20G>A (p.Arg7His)SNV Conflicting interpretations of pathogenicity 184875 rs144792613 17:41276094-41276094 17:43124077-43124077
31 BRCA1 NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His)SNV Conflicting interpretations of pathogenicity 433716 rs1265352633 17:41226369-41226369 17:43074352-43074352
32 BRCA1 NM_007294.3(BRCA1):c.527C>T (p.Thr176Met)SNV Uncertain significance 409326 rs587782747 17:41251812-41251812 17:43099795-43099795
33 BRCA1 NM_007294.3(BRCA1):c.3080G>C (p.Ser1027Thr)SNV Uncertain significance 496362 rs80357386 17:41244468-41244468 17:43092451-43092451
34 BRCA1 NM_007294.3(BRCA1):c.5056C>T (p.His1686Tyr)SNV Uncertain significance 531444 rs1555579648 17:41219643-41219643 17:43067626-43067626
35 BRCA1 NM_007294.3(BRCA1):c.3104T>C (p.Val1035Ala)SNV Uncertain significance 531214 rs1555588389 17:41244444-41244444 17:43092427-43092427
36 BRCA1 NM_007294.3(BRCA1):c.2663A>C (p.His888Pro)SNV Uncertain significance 230920 rs876658843 17:41244885-41244885 17:43092868-43092868
37 BRCA1 NM_007294.3(BRCA1):c.3403C>G (p.Gln1135Glu)SNV Uncertain significance 240792 rs80357136 17:41244145-41244145 17:43092128-43092128
38 BRCA1 NM_007294.3(BRCA1):c.4231A>G (p.Met1411Val)SNV Uncertain significance 141465 rs587781768 17:41234547-41234547 17:43082530-43082530
39 BRCA1 NM_007294.3(BRCA1):c.5470A>G (p.Ile1824Val)SNV Uncertain significance 141804 rs587782026 17:41197817-41197817 17:43045800-43045800
40 BRCA1 NM_007294.3(BRCA1):c.1745C>T (p.Thr582Met)SNV Uncertain significance 185698 rs786202386 17:41245803-41245803 17:43093786-43093786
41 BRCA1 NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln)SNV Uncertain significance 55370 rs397507239 17:41219631-41219631 17:43067614-43067614
42 BRCA1 NM_007294.3(BRCA1):c.851A>G (p.Gln284Arg)SNV Uncertain significance 55739 rs80357039 17:41246697-41246697 17:43094680-43094680
43 BRCA1 NM_007294.3(BRCA1):c.3555G>T (p.Glu1185Asp)SNV Uncertain significance 89059 rs587779368 17:41243993-41243993 17:43091976-43091976
44 BRCA1 NM_007294.3(BRCA1):c.3649T>C (p.Ser1217Pro)SNV Uncertain significance 54953 rs273900712 17:41243899-41243899 17:43091882-43091882
45 BRCA1 NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro)SNV Uncertain significance 54878 rs80357101 17:41244124-41244124 17:43092107-43092107
46 BRCA1 NM_007294.3(BRCA1):c.1381T>C (p.Phe461Leu)SNV Uncertain significance 54227 rs62625300 17:41246167-41246167 17:43094150-43094150
47 BRCA1 NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser)SNV Uncertain significance 54447 rs397508934 17:41245498-41245498 17:43093481-43093481
48 BRCA1 NM_007294.3(BRCA1):c.4096+3A>GSNV Uncertain significance 37566 rs80358015 17:41243449-41243449 17:43091432-43091432
49 BRCA1 NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly)SNV Benign 41815 rs16941 17:41244435-41244435 17:43092418-43092418
50 BRCA1 NM_007299.4(BRCA1):c.787+1524T>CSNV Benign 125554 rs16940 17:41245237-41245237 17:43093220-43093220

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

73
# 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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