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MBCS
MCID: MLC004
MIFTS: 51

Mulchandani-Bhoj-Conlin Syndrome (MBCS)

Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mulchandani-Bhoj-Conlin Syndrome

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MalaCards integrated aliases for Mulchandani-Bhoj-Conlin Syndrome:

Name: Mulchandani-Bhoj-Conlin Syndrome 57 12 15
Maternal Uniparental Disomy of Chromosome 20 12 58
Maternal Upd(20) 12 58
Upd(20)mat 12 58
Mbcs 57 12
Uniparental Disomy, Maternal, Chromosome 20 57

Characteristics:

Orphanet epidemiological data:

58
maternal uniparental disomy of chromosome 20
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant (loss of paternal allele)

Miscellaneous:
majority of patients require chronic nasogastric feedings (infancy-early childhood)
linear growth acceleration seen after growth hormone therapy
all patients in age-appropriate mainstream classroom setting


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


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Summaries for Mulchandani-Bhoj-Conlin Syndrome

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Disease Ontology : 12 A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has material basis in heterozygous mutation in an imprinting region on chromosome 20q11-q13.

MalaCards based summary : Mulchandani-Bhoj-Conlin Syndrome, also known as maternal uniparental disomy of chromosome 20, is related to transient hypogammaglobulinemia and scirrhous adenocarcinoma. An important gene associated with Mulchandani-Bhoj-Conlin Syndrome is MBCS (Mulchandani-Bhoj-Conlin Syndrome), and among its related pathways/superpathways are NF-kappaB Signaling and Dendritic Cells Developmental Lineage Pathway. The drugs Mirtazapine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include breast, b cells and bone, and related phenotypes are failure to thrive and scoliosis

OMIM® : 57 The Mulchandani-Bhoj-Conlin syndrome is characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty (Mulchandani et al., 2016). (617352) (Updated 05-Apr-2021)

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Related Diseases for Mulchandani-Bhoj-Conlin Syndrome

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Diseases related to Mulchandani-Bhoj-Conlin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 251)
# Related Disease Score Top Affiliating Genes
1 transient hypogammaglobulinemia 10.4 CD27 CD19
2 scirrhous adenocarcinoma 10.4 PGR ERBB2
3 lipid-rich breast carcinoma 10.4 PGR ERBB2
4 lobomycosis 10.4 CR2 CD19
5 immunodeficiency 16 10.4 ICOSLG CD27 CCR6
6 transverse myelitis 10.4 ICOSLG CD27 CCR6
7 myelitis 10.4 ICOSLG CD27 CCR6
8 apocrine adenosis of breast 10.4 PGR ERBB2
9 luminal breast carcinoma b 10.4 PGR ERBB2
10 bartholin's gland adenoma 10.4 PGR ESR1
11 bartholin's gland adenoid cystic carcinoma 10.4 PGR ESR1
12 bartholin's gland benign neoplasm 10.4 PGR ESR1
13 chronic tympanitis 10.4 PGR ESR1
14 vestibular gland benign neoplasm 10.4 PGR ESR1
15 chest wall lymphoma 10.4 MME CCR6
16 granulomatous endometritis 10.4 PGR ESR1
17 vulvar syringoma 10.3 PGR ESR1
18 agammaglobulinemia 10.3 ICOSLG CR2 CD19
19 primary thrombocytopenia 10.3 ICOSLG CD19 CCR6
20 ureteral lymphoma 10.3 MME CR2
21 immunodeficiency, common variable, 2 10.3 CR2 CD19
22 autoimmune disease of peripheral nervous system 10.3 ICOSLG CD19 CCR6
23 anemia, autoimmune hemolytic 10.3 ICOSLG CD19 CCR6
24 breast mucinous carcinoma 10.3 PGR ERBB2
25 transient hypogammaglobulinemia of infancy 10.3 CR2 CD27 CD19
26 cervical adenomyoma 10.3 PGR MME
27 cervical benign neoplasm 10.3 PGR MME
28 thrombocytopenia due to platelet alloimmunization 10.3 ICOSLG CD19 CCR6
29 autoimmune disease of blood 10.3 ICOSLG CD19 CCR6
30 breast squamous cell carcinoma 10.3 ESR1 ERBB2
31 gastric diffuse adenocarcinoma 10.3 PGR ERBB2
32 exanthem 10.3 ICOSLG ERBB2 CCR6
33 lung leiomyoma 10.3 PGR ESR1
34 breast leiomyoma 10.3 PGR MME
35 fallopian tube endometriosis 10.3 PGR MME
36 spinal cord disease 10.3 ICOSLG CD19 CCR6
37 adult type testicular granulosa cell tumor 10.3 PGR ESR1
38 salivary gland disease 10.3 ICOSLG ERBB2 CCR6
39 splenic disease 10.3 CR2 CD19 CCR6
40 cervical clear cell adenocarcinoma 10.3 PGR ESR1
41 relapsed/refractory diffuse large b-cell lymphoma 10.3 FCRL5 CD19
42 b cell prolymphocytic leukemia 10.3 CD38 CD19
43 refractory hematologic cancer 10.3 CD38 CD19
44 ovarian seromucinous carcinoma 10.3 PGR ESR1
45 linitis plastica 10.3 PGR ERBB2
46 cervical serous adenocarcinoma 10.3 PGR MME
47 mucocele of appendix 10.3 PGR MME
48 t-cell/histiocyte rich large b cell lymphoma 10.3 MME CR2
49 hair disease 10.3 ICOSLG ERBB2 CCR6
50 childhood type dermatomyositis 10.3 ICOSLG CXCR5 CCR6

Graphical network of the top 20 diseases related to Mulchandani-Bhoj-Conlin Syndrome:



Diseases related to Mulchandani-Bhoj-Conlin Syndrome
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Symptoms & Phenotypes for Mulchandani-Bhoj-Conlin Syndrome

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Human phenotypes related to Mulchandani-Bhoj-Conlin Syndrome:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 scoliosis 31 very rare (1%) HP:0002650
3 hyperlordosis 31 very rare (1%) HP:0003307
4 retrognathia 31 very rare (1%) HP:0000278
5 horseshoe kidney 31 very rare (1%) HP:0000085
6 epicanthus 31 very rare (1%) HP:0000286
7 motor delay 31 very rare (1%) HP:0001270
8 dolichocephaly 31 very rare (1%) HP:0000268
9 hypermelanotic macule 31 very rare (1%) HP:0001034
10 triangular face 31 very rare (1%) HP:0000325
11 posteriorly rotated ears 31 very rare (1%) HP:0000358
12 severe short stature 31 very rare (1%) HP:0003510
13 cafe-au-lait spot 31 very rare (1%) HP:0000957
14 generalized hypotonia 31 very rare (1%) HP:0001290
15 2-3 toe syndactyly 31 very rare (1%) HP:0004691
16 clinodactyly 31 very rare (1%) HP:0030084
17 intrauterine growth retardation 31 HP:0001511
18 feeding difficulties 31 HP:0011968

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation

Neurologic Central Nervous System:
hypotonia
gross motor delay

Abdomen Gastrointestinal:
feeding problems

Growth Height:
short stature

Skeletal Hands:
fifth finger clinodactyly

Prenatal Manifestations Delivery:
breech delivery

Clinical features from OMIM®:

617352 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Mulchandani-Bhoj-Conlin Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 AICDA BRCA1 CD19 CD27 CD38 CXCR5
2 hematopoietic system MP:0005397 10.03 AICDA BRCA1 CCR6 CD19 CD27 CD38
3 immune system MP:0005387 9.97 AICDA BRCA1 CCR6 CD19 CD27 CD38
4 neoplasm MP:0002006 9.5 AICDA BRCA1 CD19 ERBB2 ESR1 PGR
5 normal MP:0002873 9.28 AICDA BRCA1 CCR6 CD19 CXCR5 ERBB2
Sources

Drugs & Therapeutics for Mulchandani-Bhoj-Conlin Syndrome

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Drugs for Mulchandani-Bhoj-Conlin Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mirtazapine Approved Phase 4 85650-52-8, 61337-67-5 4205
2
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
3
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
4 Adrenergic alpha-Antagonists Phase 4
5 Psychotropic Drugs Phase 4
6 Adrenergic Antagonists Phase 4
7 Cytochrome P-450 Enzyme Inhibitors Phase 4
8 Neurotransmitter Agents Phase 4
9 Adrenergic Agents Phase 4
10 Serotonin 5-HT3 Receptor Antagonists Phase 4
11 Serotonin Uptake Inhibitors Phase 4
12 Histamine Antagonists Phase 4
13
Histamine Phosphate Phase 4 51-74-1 65513
14 Histamine H1 Antagonists Phase 4
15 Anti-Anxiety Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17
Gemcitabine Approved Phase 3 95058-81-4 60750
18
Exemestane Approved, Investigational Phase 3 107868-30-4 60198
19
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
20
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
21 Anti-Infective Agents Phase 3
22 Antiviral Agents Phase 3
23 Aromatase Inhibitors Phase 3
24
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
25
Bevacizumab Approved, Investigational Phase 2 216974-75-3
26
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
27
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
28
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
29
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
30
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
31
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
32
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
33
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
34
Pembrolizumab Approved Phase 2 1374853-91-4
35
Olaparib Approved Phase 2 763113-22-0 23725625
36
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
37
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
38
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
39
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
40
Bicalutamide Approved Phase 1, Phase 2 90357-06-5 2375 56069
41
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
42
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
43
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
44
Denosumab Approved Phase 2 615258-40-7
45
Hyaluronic acid Approved, Vet_approved Phase 1, Phase 2 9004-61-9 53477741
46
Satraplatin Investigational Phase 2 129580-63-8
47
Etirinotecan pegol Investigational Phase 2 848779-32-8
48 Immunologic Factors Phase 2
49 Immunosuppressive Agents Phase 2
50 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 Measurement-based Care vs. Standard Care for Major Depressive Disorder: a Randomized Controlled Trial With Masked Raters Completed NCT02191124 Phase 4 Paroxetine;Mirtazapine
2 Fulvestrant Followed by Everolimus Plus Exemestane vs Examestane and Everolimus Followed by Fulvestrant in Postmenopausal Women With HR+ and HER2- Locally Advanced (LABC) or Metastatic Breast Cancer (MBC) Previously Treated With NSAI Unknown status NCT02404051 Phase 3 Everolimus;Exemestane;Fulvestrant
3 A STUDY OF NERATINIB PLUS CAPECITABINE VERSUS LAPATINIB PLUS CAPECITABINE IN PATIENTS WITH HER2+ METASTATIC BREAST CANCER WHO HAVE RECEIVED TWO OR MORE PRIOR HER2-DIRECTED REGIMENS IN THE METASTATIC SETTING (NALA) Completed NCT01808573 Phase 3 neratinib;capecitabine;lapatinib
4 A Randomized Phase III Trial of Gemcitabine and Docetaxel Versus Gemcitabine and Paclitaxel in Patients With Metastatic Breast Cancer: A Comparison of Different Schedules Completed NCT00236899 Phase 3 Gemcitabine;Docetaxel;Paclitaxel
5 A Phase 3,Randomized, Double-blinded, Placebo-controlled Study to Evaluate Efficacy and Safety of Pyrotinib Plus Trastuzumab and Docetaxel Versus Placebo Plus Trastuzumab and Docetaxel in Patients With HER2 Positive MBC. Recruiting NCT03863223 Phase 3 Pyrotinib, Trastuzumab, Docetaxel;Placebo, Trastuzumab, Docetaxel
6 A Phase 3 Asian Study of Sacituzumab Govitecan (IMMU-132) Versus Treatment of Physician's Choice (TPC) in Subjects With HR+/ HER2- Metastatic Breast Cancer (MBC) Who Have Failed at Least 2 Prior Chemotherapy Regimens Recruiting NCT04639986 Phase 3 sacituzumab govitecan (IMMU-132);Eribulin Mesylate Injection;Capecitabine Oral Product;Gemcitabine Injection;Vinorelbine injection
7 A Phase III,Randomized,Multicenter,Double-blind Clinical Trail to Evaluate the Efficacy,Safety and Immunogenicity of the Combination of TQ-B211 Plus Docetaxel Versus Herceptin® Plus Docetaxel as First-line Treatment in Patients With HER2-positive MBC. Recruiting NCT04385563 Phase 3 TQ-B211;Herceptin®;docetaxel
8 A Phase III Trial to Compare the Safety and Efficacy of Lapatinib Plus Trastuzumab Plus an Aromatase Inhibitor (AI) vs. Trastuzumab Plus an AI vs. Lapatinib Plus an AI as 1st- or 2nd- Line Therapy in Postmenopausal Subjects With Hormone Receptor+, HER2-positive Metastatic Breast Cancer (MBC) Who Received Prior Trastuzumab and Endocrine Therapies Active, not recruiting NCT01160211 Phase 3 lapatinib;trastuzumab;Aromatase inhibitor;lapatinib
9 A Randomised, Multicentre, Open-label Phase II Trial Investigating Activity of Chemotherapy and Lapatinib and Trastuzumab in Patients With HER2-positive Metastatic Breast Cancer (MBC) Refractory to Anti HER2 Therapies Unknown status NCT02238509 Phase 2 Lapatinib;Trastuzumab
10 A Phase 2, Open-Label Study of EZN-2208 (PEG-SN38) in Patients With Previously Treated Metastatic Breast Cancer (MBC) Unknown status NCT01036113 Phase 2 EZN-2208
11 LPT 111111- A Single-arm, Multicenter Phase II Study to Evaluate The Combination of Weekly Nanoparticle Albumin Bound Paclitaxel (Nab-Paclitaxel or ABRAXANE®) and Lapatinib (TYKERB®) in Women With No More Than One Prior Treatment for ErbB2 Overexpressing Metastatic Breast Cancer Completed NCT00709761 Phase 2 Lapatinib/nab-Paclitaxel
12 Phase II of Oral Satraplatin in Patients With Metastatic Breast Cancer (MBC) Completed NCT00265655 Phase 2 Satraplatin
13 An Open-Label Randomized Phase II Study of Cipterbin® or Cipterbin® in Combination With Vinorelbine in Patients With HER2/Neu-overexpressed Metastatic Breast Cancer (MBC) Completed NCT01439191 Phase 2 humanized anti-HER2 antibody;Vinorelbine
14 Phase II Trial of Trastuzumab (Herceptin), Bevacizumab, and Docetaxel (Taxotere) Trial in Stage IV Metastatic Breast Cancer (MBC) Patients Completed NCT00428922 Phase 2 Trastuzumab;Bevacizumab;Docetaxel
15 Open Label, Uncontrolled Study of XRP9881 in Combination With Trastuzumab (Herceptin®) in Patients With HER2 Positive Metastatic Breast Cancer (MBC) Completed NCT00386685 Phase 2 larotaxel (XRP9881);trastuzumab
16 Phase II Trial of Metronomic Eribulin (Halaven) in Pretreated Metastatic Breast Cancer (MBC) Completed NCT01908101 Phase 2 Eribulin Mesylate
17 A Double-Blind, Randomized Phase 2b Study of Sorafenib Compared to Placebo When Administered in Combination With Chemotherapy for Patients With Locally Advanced or MBC That Has Progressed During or After Bevacizumab Therapy Completed NCT00493636 Phase 2 Gemcitabine;Sorafenib;Placebo;Capecitabine
18 Dose Finding and Efficacy Evaluation of DOXIL (Doxorubicin HCL Liposome Injection) in Combination With Abraxane (Abraxane) in Patients With Metastatic Breast Cancer (MBC) [Phase I and II] Completed NCT00442260 Phase 1, Phase 2 DOXIL;Abraxane
19 Open Label, Uncontrolled, Study of XRP9881 (Larotaxel) in Combination With Weekly Trastuzumab (Herceptin®) in Patients With HER2 Positive Metastatic Breast Cancer (MBC) Completed NCT00387907 Phase 2 larotaxel (XRP9881);trastuzumab
20 Phase II Study of Novel Epothilone (BMS-247550) in Patients With MBC Who Are Refractory to an Anthracycline, a Taxane, and Capecitabine Completed NCT00080262 Phase 2 Ixabepilone
21 A Phase 1b/2 Randomized Study of MEDI-573 in Combination With an Aromatase Inhibitor (AI) Versus AI Alone in Women With Metastatic Breast Cancer (MBC) Completed NCT01446159 Phase 2 MEDI-573;Aromatase Inhibitor
22 Randomized Phase 2A/2B Study to Compare the Efficacy and Safety of ASLAN001 + Capecitabine to Lapatinib + Capecitabine in Patients With HER 2-Positive MBC That Has Failed on Prior Trastuzumab Therapy Completed NCT02338245 Phase 2 ASLAN001;Lapatinib;Capecitabine
23 A Phase 2 Study of Etirinotecan Pegol (NKTR-102) in Patients With Refractory Brain Metastases and Advanced Lung Cancer or Metastatic Breast Cancer (MBC) Completed NCT02312622 Phase 2 Pegylated Irinotecan
24 Phase II Randomized Trial of Weekly and Every 3-week Ixabepilone in Metastatic Breast Cancer (MBC) Patients Completed NCT00593827 Phase 2 Ixabepilone;Ixabepilone
25 Phase â…¡ Study of Gemcitabine and Cisplatin as First Line Combination Therapy in Patients With Triple-negative MBC Completed NCT00601159 Phase 2 gemcitabine and cisplatin
26 A Phase I/II Trial of Dasatinib in Combination With Trastuzumab and Paclitaxel in the First Line Treatment of Her2-Positive Metastatic Breast Cancer (MBC) Patients Completed NCT01306942 Phase 1, Phase 2 Dasatinib;Trastuzumab;Paclitaxel
27 Phase I/II Trial of Sorafenib Plus Ixabepilone in HER2-Negative Metastatic Breast Cancer (MBC) Completed NCT00825734 Phase 1, Phase 2 Sorafenib;Ixabepilone
28 A Randomized, Double-Blind, Placebo-Controlled Phase II Trial of Weekly Paclitaxel/Bevacizumab +/- Everolimus as First-Line Chemotherapy for Patients With HER2-Negative Metastatic Breast Cancer (MBC) Completed NCT00915603 Phase 2 Everolimus;Bevacizumab;Paclitaxel;Placebo;Bevacizumab;Paclitaxel
29 Phase II Trial of Oxaliplatin in Combination With S-1(SOX) in Patients With Recurrent or Metastatic Breast Cancer (MBC) Previously Treated With or Resistant to an Anthracycline and Taxane Completed NCT00527930 Phase 2 TS-1 and Eloxatin
30 OPEN LABEL PHASE 2 STUDY ON THE EFFICACY AND TOLERANCE OF A COMBINATION OF PONATINIB AND 5-AZACITIDINE IN CHRONIC MYELOGENOUS LEUKAEMIA IN ACCELERATED PHASE OR IN MYELOID BLAST CRISIS - PONAZA TRIAL Recruiting NCT03895671 Phase 2 Ponatinib;Azacitidine
31 Saci-IO HR+: Randomized Phase II Study of Sacituzumab Govitecan With or Without Pembrolizumab in Hormone Receptor-positive (HR+) / HER2- Metastatic Breast Cancer (MBC) Recruiting NCT04448886 Phase 2 Pembrolizumab;Sacituzumab Govitecan
32 A Two-stage Simon Design Phase II Study for NOn-BRCA Metastatic BReast Cancer (MBC) Patients With Homologous Recombination Deficiency Treated With OLAparib Single Agent Recruiting NCT03367689 Phase 2 Olaparib
33 I-CURE-1: A Phase II, Single Arm Study of Pembroluzimab Combined With Carboplatin in Patients With Circulating Tumor Cells (CTCs) Positive Her-2 Negative Metastatic Breast Cancer (MBC) Recruiting NCT03213041 Phase 2 Carboplatin
34 Phase Ib/II Trial of Copanlisib in Combination With Trastuzumab and Pertuzumab After Induction Treatment of HER2 Positive (HER2+) Metastatic Breast Cancer (MBC) With PIK3CA Mutation or PTEN Mutation Recruiting NCT04108858 Phase 1, Phase 2 Copanlisib
35 Phase II, Open Label, Single Arm Study to Investigate Anti-tumor Effect of Ixabepilone in Patients With Locally Recurrent or Metastatic Breast Cancer (mBC) Selected by the Ixabepilone DRP After Failure of an Anthracycline and Taxanes. Recruiting NCT04796324 Phase 2 Ixabepilone Injection
36 Multicenter,Open-label,Phase II Clinical Trial to Evaluate the Efficacy and Safety of Niraparib + Aromatase Inhibitors for(HR)+/(HER2)-, MBC With Either Germline BRCA-mutated or Germinal BRCA-wildtype and Homologous Recombination Deficiency Recruiting NCT04240106 Phase 2 Niraparib 100 MG;Aromatase Inhibitors
37 Phase 2 Study of MCLA-128-based Combinations in Metastatic Breast Cancer (MBC): MCLA-128/Trastuzumab/Chemotherapy in HER2-positive MBC and MCLA-128/Endocrine Therapy in Estrogen Receptor Positive and Low HER2 Expression MBC Active, not recruiting NCT03321981 Phase 2 MCLA-128;Trastuzumab;Vinorelbine;Endocrine therapy
38 A Phase 2 Study of Poziotinib in Patients With HER2-Positive Metastatic Breast Cancer (MBC) Who Have Received Prior HER2 Regimens for MBC Active, not recruiting NCT02659514 Phase 2 Poziotinib
39 Phase I/II Trial of Palbociclib in Combination With Bicalutamide for the Treatment of AR(+) Metastatic Breast Cancer (MBC) Active, not recruiting NCT02605486 Phase 1, Phase 2 Palbociclib;Bicalutamide
40 Phase II, Open Label Clinical Study to Investigate Anti-tumour Effect and Tolerability of the PARP Inhibitor 2X-121 in Patients With Metastatic Breast Cancer Selected by the 2X-121 DRP Active, not recruiting NCT03562832 Phase 2 PARP inhibitor 2X-121
41 A Phase II Study With Orteronel as Monotherapy in Patients With Metastatic Breast Cancer (MBC) That Expresses the Androgen Receptor (AR) Active, not recruiting NCT01990209 Phase 2 Orteronel
42 Randomized Phase II Trial of Chemotherapy of Physician's Choice Plus Trastuzumab Versus Chemotherapy of Physician's Choice Plus Trastuzumab Plus Pertuzumab In Women With Pretreated, HER2-Overexpressing Metastatic Breast Cancer (MBC) Active, not recruiting NCT02229149 Phase 2 Trastuzumab;Pertuzumab;Vinorelbine, Paclitaxel, Nab-Paclitaxel , Docetaxel, Capecitabine
43 A Phase II, Open Label Study to Evaluate Denosumab in Patients With ER and/or PR-Positive, HER2-Negative Metastatic Breast Cancer (MBC) With Bone Metastases and Detectable Circulating Tumor Cells (CTCs) Terminated NCT03070002 Phase 2
44 A Randomized, Open-label, Multicenter, Phase 1b/2 Study of Eribulin Mesylate in Combination With PEGylated Recombinant Human Hyaluronidase (PEGPH20) Versus Eribulin Mesylate Alone in Subjects With Human Epidermal Growth Factor Receptor 2 (HER2)-Negative, High-Hyaluronan (HA) Metastatic Breast Cancer (MBC) Terminated NCT02753595 Phase 1, Phase 2 Eribulin mesylate;Eribulin mesylate;Eribulin mesylate
45 Randomized, Double Blind Multicenter Phase II Study of Time to Progression on Fulvestrant in Combination With Erlotinib or Placebo in Hormone Receptor-Positive Metastatic Breast Cancer (MBC) Subjects Who Progressed on First Line Hormonal Therapy Terminated NCT00570258 Phase 2 Fulvestrant;erlotinib;Fulvestrant;Placebo
46 Randomized, Placebo Controlled, Double Blind Phase 1b/2 Study of U3-1287 (AMG 888) in Combination With Trastuzumab Plus Paclitaxel in Newly Diagnosed HER2 Positive Metastatic Breast Cancer (MBC) Terminated NCT01512199 Phase 1, Phase 2 U3-1287;Trastuzumab;Paclitaxel;U3-1287;Trastuzumab;Paclitaxel;Placebo
47 Pharmacokinetics of Standard First and Second Line Anti-TB Drugs in the Lung and Lesions of Subjects Elected for Resection Surgery Completed NCT00816426 Phase 1 Rifampicin;Isoniazid;Pyrazinamide;Kanamycin;Moxifloxacin
48 A Phase I, Open-label, Multiple-ascending Dose Trial to Investigate the Safety, Tolerability, Pharmacokinetics, Biological and Clinical Activity of Avelumab (MSB0010718C) in Subjects With Metastatic or Locally Advanced Solid Tumors and Expansion to Selected Indications Completed NCT01772004 Phase 1 Avelumab
49 A Phase Ib, Open-label, Two Arm Study of i.v. and Oral Panobinostat (LBH589) in Combination With i.v. Trastuzumab (Herceptin®) and i.v. Paclitaxel as Treatment for Adult Female Patients With HER2 Overexpressing Metastatic Breast Cancer (MBC) Completed NCT00788931 Phase 1 IV LBH589;Oral LBH589;trastuzumab;paclitaxel
50 A Phase 1b Pharmacodynamic Study of Durvalumab (MEDI4736) in Patients With HER-2 Positive Metastatic Breast Cancer (MBC) Receiving Trastuzumab Completed NCT02649686 Phase 1 Durvalumab;Trastuzumab

Search NIH Clinical Center for Mulchandani-Bhoj-Conlin Syndrome

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Genetic Tests for Mulchandani-Bhoj-Conlin Syndrome

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Anatomical Context for Mulchandani-Bhoj-Conlin Syndrome

About this section

MalaCards organs/tissues related to Mulchandani-Bhoj-Conlin Syndrome:

40
Breast, B Cells, Bone, Brain, Kidney, Liver, Skin
Sources

Publications for Mulchandani-Bhoj-Conlin Syndrome

About this section

Articles related to Mulchandani-Bhoj-Conlin Syndrome:

(show top 50) (show all 1359)
# Title Authors PMID Year
1
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. 57
26248010 2016
2
Relative performance of commercial citric acid and quaternary ammonium sanitizers against Listeria monocytogenes under conditions relevant to food industry. 61
33653525 2021
3
Coating magnetite alters the mechanisms and site energy for sulfonamide antibiotic sorption on biochar. 61
33444953 2021
4
Transcriptional regulation of memory B cell differentiation. 61
33024284 2021
5
Sorption mechanisms of antibiotic sulfamethazine (SMT) on magnetite-coated biochar: pH-dependence and redox transformation. 61
33160652 2021
6
Conserved Epigenetic Programming and Enhanced Heme Metabolism Drive Memory B Cell Reactivation. 61
33627377 2021
7
Durable SARS-CoV-2 B cell immunity after mild or severe disease. 61
33571162 2021
8
Remediation of Cu(II) and its adsorption mechanism in aqueous system by novel magnetic biochar derived from co-pyrolysis of sewage sludge and biomass. 61
33387322 2021
9
Homologous and Heterologous Adaptation and Thermochemical Inactivation of Staphylococcus aureus with Exposure to Cinnamaldehyde. 61
33180940 2021
10
Multimeric antibodies from antigen-specific human IgM+ memory B cells restrict Plasmodium parasites. 61
33661302 2021
11
Systematic memory B cell archiving and random display shape the human splenic marginal zone throughout life. 61
33538775 2021
12
Everolimus-Related Pneumonitis in Patients with Metastatic Breast Cancer: Incidence, Radiographic Patterns, and Relevance to Clinical Outcome. 61
33191524 2021
13
Plasmodium falciparum-specific IgM B cells dominate in children, expand with malaria, and produce functional IgM. 61
33661303 2021
14
Histopathological analysis of mucinous breast cancer subtypes and comparison with invasive carcinoma of no special type. 61
33707745 2021
15
Synergistic activity of tetrasodium EDTA, ethanol and chlorhexidine hydrochloride against planktonic and biofilm cells of clinically relevant pathogens. 61
33383260 2021
16
In Vitro Anti-Leptospiral Activity of Phyllanthus amarus Extracts and Their Combinations with Antibiotics. 61
33802184 2021
17
Bactericidal Properties of Rod-, Peanut-, and Star-Shaped Gold Nanoparticles Coated with Ceragenin CSA-131 against Multidrug-Resistant Bacterial Strains. 61
33809901 2021
18
Fabrication of litchi-like lignin/zinc oxide composites with enhanced antibacterial activity and their application in polyurethane films. 61
33773384 2021
19
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Variations for Mulchandani-Bhoj-Conlin Syndrome

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Expression for Mulchandani-Bhoj-Conlin Syndrome

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Search GEO for disease gene expression data for Mulchandani-Bhoj-Conlin Syndrome.
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Pathways for Mulchandani-Bhoj-Conlin Syndrome

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Pathways related to Mulchandani-Bhoj-Conlin Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
NF-kappaB Signaling 4
12.07 PRDM1 CXCR5 CD38 CD19 AICDA
2
Dendritic Cells Developmental Lineage Pathway 64
11.3 MME CD38 CD19
3
Hematopoietic cell lineage 36
11.25 MME CR2 CD38 CD19
4
IgA-Producing B Cells in the Intestine 64
10.84 PRDM1 ICOSLG CXCR5 CR2 CCR6
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GO Terms for Mulchandani-Bhoj-Conlin Syndrome

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Cellular components related to Mulchandani-Bhoj-Conlin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 PLXDC1 PGR MME LYPD4 ICOSLG FCRL5
2 integral component of membrane GO:0016021 10 PLXDC1 MME ICOSLG FCRL5 FCRL4 ESR1
3 cell surface GO:0009986 9.73 MME FCRL5 FCRL4 CD38 CD27 CCR6
4 external side of plasma membrane GO:0009897 9.72 ICOSLG CXCR5 CD27 CD19 CCR6
5 receptor complex GO:0043235 9.67 PLXDC1 FCRL5 ERBB2 CR2
6 integral component of plasma membrane GO:0005887 9.61 MME FCRLA FCRL5 FCRL4 ERBB2 CXCR5
7 plasma membrane GO:0005886 9.5 PLXDC1 MME LYPD4 ICOSLG FCRL5 FCRL4

Biological processes related to Mulchandani-Bhoj-Conlin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immunoglobulin mediated immune response GO:0016064 9.26 CD27 CD19
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.26 ESR1 CXCR5 CD38 CCR6
3 intracellular steroid hormone receptor signaling pathway GO:0030518 9.16 PGR ESR1
4 cell surface receptor signaling pathway GO:0007166 9.02 FCRLA FCRL5 FCRL4 ERBB2 CD27

Molecular functions related to Mulchandani-Bhoj-Conlin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.1 FCRLA FCRL5 FCRL4 ERBB2 CR2 CD27
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Sources for Mulchandani-Bhoj-Conlin Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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