FANCS
MCID: FNC062
MIFTS: 28

Fanconi Anemia, Complementation Group S (FANCS)

Categories: Blood diseases, Bone 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 75 29 6 40
Fancs 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
three unrelated patients have been reported (last curated february 2018)


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)

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 a. An important gene associated with Fanconi Anemia, Complementation Group S is BRCA1 (BRCA1, DNA Repair Associated). The drugs Olaparib and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are hypertelorism and clinodactyly

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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

Head And Neck Head:
microcephaly

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

Growth Height:
short stature

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

Human phenotypes related to Fanconi Anemia, Complementation Group S:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 clinodactyly 32 HP:0030084
3 intellectual disability 32 HP:0001249
4 failure to thrive 32 HP:0001508
5 narrow palate 32 HP:0000189
6 coarse facial features 32 HP:0000280
7 dental malocclusion 32 HP:0000689
8 global developmental delay 32 HP:0001263
9 delayed speech and language development 32 HP:0000750
10 anteverted nares 32 HP:0000463
11 epicanthus 32 HP:0000286
12 prominent nasal bridge 32 HP:0000426
13 microphthalmia 32 HP:0000568
14 upslanted palpebral fissure 32 HP:0000582
15 low anterior hairline 32 HP:0000294
16 blepharophimosis 32 HP:0000581
17 thick upper lip vermilion 32 HP:0000215
18 breast carcinoma 32 HP:0003002
19 ovarian neoplasm 32 HP:0100615
20 long eyelashes 32 HP:0000527
21 proximal placement of thumb 32 very rare (1%) HP:0009623
22 sparse hair 32 HP:0008070
23 macrodontia 32 HP:0001572

Drugs & Therapeutics for Fanconi Anemia, Complementation Group S

Drugs for Fanconi Anemia, Complementation Group S (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olaparib Approved Phase 2, Phase 3,Phase 3,Phase 1 763113-22-0 23725625
2
Doxorubicin Approved, Investigational Phase 2, Phase 3,Phase 3 23214-92-8 31703
3 Talazoparib Approved, Investigational Phase 3,Phase 2,Phase 1 1207456-01-6
4
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
5
Topotecan Approved, Investigational Phase 2, Phase 3 123948-87-8, 119413-54-6 60700
6
Paclitaxel Approved, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1 33069-62-4 36314
7
Niraparib Approved, Investigational Phase 3,Phase 1 1038915-60-4 24958200
8
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 60780 44424639
9
Gemcitabine Approved Phase 3,Phase 2 95058-81-4 60750
10
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
11
Doxil Approved June 1999 Phase 2, Phase 3,Phase 3 31703
12
Cediranib Investigational Phase 2, Phase 3,Phase 3,Phase 1 288383-20-0 9933475
13
Maleic acid Experimental Phase 2, Phase 3,Phase 3,Phase 1 110-16-7 444266
14 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3
15 Topoisomerase Inhibitors Phase 2, Phase 3,Phase 3,Phase 1
16 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3
17 Poly(ADP-ribose) Polymerase Inhibitors Phase 2, Phase 3,Phase 3,Phase 1
18 Antiviral Agents Phase 3,Phase 2,Phase 1
19 Anti-Infective Agents Phase 3,Phase 2,Phase 1
20 Antimetabolites Phase 3,Phase 2,Phase 1
21 Albumin-Bound Paclitaxel Phase 2, Phase 3,Phase 3,Phase 1
22 Antineoplastic Agents, Phytogenic Phase 2, Phase 3,Phase 3,Phase 1
23 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 3,Phase 1
24 Antimitotic Agents Phase 2, Phase 3,Phase 3,Phase 1
25 topoisomerase I inhibitors Phase 2, Phase 3,Phase 1
26 Immunologic Factors Phase 3,Phase 2,Phase 1
27 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
28 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
29 Mitogens Phase 3
30
Vinblastine Approved Phase 2 865-21-4 241903 13342
31
Pembrolizumab Approved Phase 2 1374853-91-4
32
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
33
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
34
Rucaparib Approved, Investigational Phase 2,Phase 1 283173-50-2 9931954
35
Pancrelipase Approved, Investigational Phase 2,Phase 1 53608-75-6
36
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
37
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
38
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
39
Levoleucovorin Approved, Investigational Phase 1, Phase 2 68538-85-2
40
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
41
Irinotecan Approved, Investigational Phase 1, Phase 2 100286-90-6, 97682-44-5 60838
42
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 6006 143
43
Bevacizumab Approved, Investigational Phase 2 216974-75-3
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
45
Veliparib Investigational Phase 2,Phase 1 912444-00-9 11960529
46
Tremelimumab Investigational Phase 2 745013-59-6
47
Camptothecin Experimental Phase 1, Phase 2 7689-03-4
48 Protective Agents Phase 1, Phase 2,Not Applicable
49 Vinca Alkaloids Phase 2
50 Immunoglobulin G Phase 2

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 National Screening in Denmark With MR Versus Mammography and Ultrasound of Women With BRCA1 or BRCA2 Mutations Unknown status NCT00413491 Phase 4
2 Cediranib Maleate and Olaparib or Standard Chemotherapy in Treating Patients With Recurrent Platinum-Resistant or -Refractory Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT02502266 Phase 2, Phase 3 Cediranib Maleate;Olaparib;Paclitaxel;Pegylated Liposomal Doxorubicin Hydrochloride;Topotecan Hydrochloride
3 Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer Recruiting NCT03732820 Phase 3 olaparib;abiraterone acetate
4 A Phase III Trial of Niraparib Versus Physician's Choice in HER2 Negative, Germline BRCA Mutation-positive Breast Cancer Patients Active, not recruiting NCT01905592 Phase 3 niraparib;Physician's choice
5 Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations. Active, not recruiting NCT02000622 Phase 3 Olaparib;Physician's choice chemotherapy
6 A Study Evaluating Talazoparib (BMN 673), a PARP Inhibitor, in Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (EMBRACA Study) Active, not recruiting NCT01945775 Phase 3 talazoparib;Physician's-Choice
7 Olaparib or Cediranib Maleate and Olaparib Compared With Standard Platinum-Based Chemotherapy in Treating Patients With Recurrent Platinum-Sensitive Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Active, not recruiting NCT02446600 Phase 3 Carboplatin;Cediranib Maleate;Gemcitabine Hydrochloride;Olaparib;Paclitaxel;Pegylated Liposomal Doxorubicin Hydrochloride
8 A Phase 2, 2-Stage, 2-Cohort Study of Talazoparib (BMN 673), in Locally Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (ABRAZO Study) Completed NCT02034916 Phase 2 talazoparib
9 Dose-finding Study Comparing Efficacy and Safety of a PARP Inhibitor Against Doxil in BRCA+ve Advanced Ovarian Cancer Completed NCT00628251 Phase 2 AZD2281;Liposomal Doxorubicin;AZD2281
10 Study to Assess the Efficacy and Safety of a PARP Inhibitor for the Treatment of BRCA-positive Advanced Ovarian Cancer Completed NCT00494442 Phase 2 KU-0059436 (AZD2281)(PARP inhibitor);KU-0059436 (AZD2281)(PARP inhibitor)
11 Vinorelbine in Mesothelioma Recruiting NCT02139904 Phase 2 Vinorelbine
12 Olaparib, Durvalumab, and Tremelimumab in Treating Patients With Recurrent or Refractory Ovarian, Fallopian Tube or Primary Peritoneal Cancer With BRCA1 or BRCA2 Mutation Recruiting NCT02953457 Phase 2 Olaparib
13 Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability Recruiting NCT03428802 Phase 2
14 Olaparib With or Without Atezolizumab in Treating Patients With Locally Advanced or Metastatic Non-HER2-Positive Breast Cancer Recruiting NCT02849496 Phase 2 Atezolizumab;Olaparib
15 Docetaxel, Carboplatin, and Rucaparib Camsylate in Treating Patients With Metastatic Castration Resistant Prostate Cancer With Homologous Recombination DNA Repair Deficiency Recruiting NCT03442556 Phase 2 Carboplatin;Docetaxel;Rucaparib Camsylate
16 Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer Recruiting NCT01585805 Phase 2 Cisplatin;Gemcitabine Hydrochloride;Veliparib
17 Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT03377556 Phase 2 Talazoparib
18 Olaparib Before Surgery in Treating Participants With Localized Prostate Cancer Recruiting NCT03570476 Phase 2 Olaparib
19 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Recruiting NCT03375307 Phase 2 Olaparib
20 Cisplatin With or Without Veliparib in Treating Patients With Recurrent or Metastatic Triple-Negative and/or BRCA Mutation-Associated Breast Cancer With or Without Brain Metastases Recruiting NCT02595905 Phase 2 Cisplatin;Veliparib
21 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
22 Correlate BRCA1 Protein Expression With Response to DNA Damaging Chemotherapy Active, not recruiting NCT01990352 Phase 2 Pegylated liposomal doxorubicin
23 ABT-888 and Temozolomide for Metastatic Breast Cancer and BRCA1/2 Breast Cancer Active, not recruiting NCT01009788 Phase 2 ABT-888;temozolomide
24 Study to Assess the Efficacy and Safety of a PARP Inhibitor for the Treatment of BRCA-positive Advanced Breast Cancer Active, not recruiting NCT00494234 Phase 2 KU-0059436 (AZD2281) (PARP inhibitor);KU-0059436 (AZD2281) (PARP inhibitor)
25 Olaparib and Cediranib Maleate in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Active, not recruiting NCT02345265 Phase 2 Cediranib Maleate;Olaparib
26 Cediranib Maleate and Olaparib in Treating Patients With Recurrent Ovarian, Fallopian Tube, or Peritoneal Cancer or Recurrent Triple-Negative Breast Cancer Active, not recruiting NCT01116648 Phase 1, Phase 2 Cediranib Maleate;Olaparib
27 Liposomal Irinotecan, Fluorouracil, Leucovorin Calcium, and Rucaparib in Treating Patients With Metastatic Pancreatic, Colorectal, Gastroesophageal, or Biliary Cancer Not yet recruiting NCT03337087 Phase 1, Phase 2 Fluorouracil;Leucovorin Calcium;Liposomal Irinotecan;Rucaparib
28 A Genetic Substudy Associated With the Avastin (Bevacizumab) Study MO19390 in Patients With Advanced or Recurrent Non-Squamous Cell Lung Cancer. Terminated NCT00642824 Phase 2 Standard chemotherapy;bevacizumab [Avastin]
29 The Potential for Oral Diindolylmethane (DIM) Supplementation to Increase the Production of the BRCA1 Protein in BRCA1 Mutation Carriers Unknown status NCT01022333 Phase 1
30 Study of Talazoparib, a PARP Inhibitor, in Patients With Advanced or Recurrent Solid Tumors Completed NCT01286987 Phase 1 Talazoparib
31 Veliparib and Carboplatin in Treating Patients With HER2-Negative Metastatic Breast Cancer Completed NCT01251874 Phase 1 Carboplatin;Veliparib
32 Study Evaluating the Antitumor Activity and Safety of Niraparib as Neoadjuvant Treatment Recruiting NCT03329937 Phase 1 Niraparib
33 Veliparib and Dinaciclib in Treating Patients With Advanced Solid Tumors Recruiting NCT01434316 Phase 1 Dinaciclib;Veliparib
34 Cancer Prevention in Women With a BRCA Mutation Recruiting NCT02225015 Phase 1
35 Talazoparib, Carboplatin, and Paclitaxel in Treating Patients With Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT02317874 Phase 1 Carboplatin;Paclitaxel;Talazoparib
36 Mirvetuximab Soravtansine and Rucaparib Camsylate in Treating Participants With Recurrent Endometrial, Ovarian, Fallopian Tube or Primary Peritoneal Cancer Recruiting NCT03552471 Phase 1 Rucaparib Camsylate
37 Phase I Trial of Endoxifen Gel Versus Placebo in Women Undergoing Breast Surgery Recruiting NCT03317405 Phase 1 Z-Endoxifen Hydrochloride
38 Bexarotene in Preventing Breast Cancer in Patients at High Risk for Breast Cancer Recruiting NCT03323658 Phase 1 Bexarotene
39 A Study to Assess the Safety and Pharmacokinetics of an Inhibitor of Poly ADP-Ribose Polymerase-1 (PARP) Active, not recruiting NCT00516373 Phase 1 KU-0059436 (AZD2281)(PARP inhibitor)
40 Niraparib and Copanlisib in Treating Participants With Recurrent Endometrial, Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Not yet recruiting NCT03586661 Phase 1 Copanlisib;Niraparib
41 Establishing the Incidences of BRCA1 and BRCA2 Mutation by Combining DHPLC and Direct Sequencing in Ovarian Cancer Unknown status NCT00155896
42 The Link Between BRCA Mutation and Endothelial Function Unknown status NCT02474264 Not Applicable
43 Transformation Potential of E2 Exposed Breast Cancer Susceptibility Gene Mutation Heterozygous Epithelial Breast Cells Unknown status NCT01907438
44 Lavage of the Uterine Cavity for the Diagnosis of Serous Tubal Intraepithelial Carcinoma Unknown status NCT02039388 Not Applicable
45 A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young Women Completed NCT00858078
46 Counseling Interventions for BRCA 1/2 Cancer Susceptibility Testing Completed NCT00165152 Not Applicable
47 Risk Education and Assessment for Cancer Heredity Completed NCT01346761 Not Applicable
48 A Nutritional Intervention to Decrease Breast Density Among Female BRCA (BReast CAncer Susceptibility Gene) Carriers Recruiting NCT02197000 Not Applicable
49 C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer Population. Recruiting NCT02503436
50 Early Salpingectomy (Tubectomy) With Delayed Oophorectomy in BRCA1/2 Gene Mutation Carriers Recruiting NCT02321228 Not Applicable

Search 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:

41
Bone, Bone Marrow, Skin, Breast

Publications for Fanconi Anemia, Complementation Group S

Articles related to Fanconi Anemia, Complementation Group S:

# Title Authors Year
1
FANCs regulate firing of DNA replication origins. ( 20647748 )
2010

Variations for Fanconi Anemia, Complementation Group S

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

75
# Symbol AA change Variation ID SNP ID
1 BRCA1 p.Arg1699Trp VAR_075666 rs55770810

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA1 NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs) deletion Pathogenic rs80357669 GRCh37 Chromosome 17, 41245091: 41245091
2 BRCA1 NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs) deletion Pathogenic rs80357669 GRCh38 Chromosome 17, 43093074: 43093074
3 BRCA1 NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45553935 GRCh37 Chromosome 17, 41209139: 41209139
4 BRCA1 NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45553935 GRCh38 Chromosome 17, 43057122: 43057122
5 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh37 Chromosome 17, 41215948: 41215948
6 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh38 Chromosome 17, 43063931: 43063931
7 BRCA1 NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs) deletion Pathogenic rs797045175 GRCh38 Chromosome 17, 43095919: 43095922
8 BRCA1 NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs) deletion Pathogenic rs797045175 GRCh37 Chromosome 17, 41247936: 41247939
9 BRCA1 NM_007294.3(BRCA1): c.2709T> A (p.Cys903Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 43092822: 43092822
10 BRCA1 NM_007294.3(BRCA1): c.2709T> A (p.Cys903Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 41244839: 41244839

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....