Aliases & Classifications for Recombinant 8 Syndrome

Summaries for Recombinant 8 Syndrome

Genetics Home Reference : 25 Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities.

MalaCards based summary : Recombinant 8 Syndrome, also known as recombinant chromosome 8 syndrome, is related to recombinant chromosome 8 syndrome, and has symptoms including cryptorchidism, scrotal hypoplasia and abnormality of the kidney. The drugs Cetrorelix and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include eye, myeloid and heart.

Related Diseases for Recombinant 8 Syndrome

Diseases related to Recombinant 8 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 recombinant chromosome 8 syndrome 11.0

Symptoms & Phenotypes for Recombinant 8 Syndrome

Human phenotypes related to Recombinant 8 Syndrome:

32 (show all 38)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 hallmark (90%) HP:0000028
2 scrotal hypoplasia 32 frequent (33%) HP:0000046
3 abnormality of the kidney 32 frequent (33%) HP:0000077
4 abnormality of the dentition 32 hallmark (90%) HP:0000164
5 cleft palate 32 occasional (7.5%) HP:0000175
6 abnormality of oral frenula 32 frequent (33%) HP:0000190
7 cleft upper lip 32 occasional (7.5%) HP:0000204
8 gingival overgrowth 32 frequent (33%) HP:0000212
9 hypertelorism 32 hallmark (90%) HP:0000316
10 micrognathia 32 hallmark (90%) HP:0000347
11 hearing impairment 32 frequent (33%) HP:0000365
12 low-set ears 32 frequent (33%) HP:0000369
13 chronic otitis media 32 frequent (33%) HP:0000389
14 anteverted nares 32 hallmark (90%) HP:0000463
15 abnormality of vision 32 occasional (7.5%) HP:0000504
16 pectus excavatum 32 frequent (33%) HP:0000767
17 intellectual disability 32 hallmark (90%) HP:0001249
18 seizures 32 frequent (33%) HP:0001250
19 spasticity 32 frequent (33%) HP:0001257
20 global developmental delay 32 hallmark (90%) HP:0001263
21 redundant skin 32 hallmark (90%) HP:0001582
22 ventricular septal defect 32 frequent (33%) HP:0001629
23 atrial septal defect 32 frequent (33%) HP:0001631
24 tetralogy of fallot 32 frequent (33%) HP:0001636
25 patent ductus arteriosus 32 frequent (33%) HP:0001643
26 deep plantar creases 32 hallmark (90%) HP:0001869
27 low posterior hairline 32 hallmark (90%) HP:0002162
28 scoliosis 32 frequent (33%) HP:0002650
29 downturned corners of mouth 32 hallmark (90%) HP:0002714
30 clinodactyly of the 5th finger 32 frequent (33%) HP:0004209
31 abnormality of the anus 32 occasional (7.5%) HP:0004378
32 pulmonary artery stenosis 32 frequent (33%) HP:0004415
33 depressed nasal bridge 32 frequent (33%) HP:0005280
34 patellar aplasia 32 frequent (33%) HP:0006443
35 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
36 thick vermilion border 32 frequent (33%) HP:0012471
37 camptodactyly of finger 32 frequent (33%) HP:0100490
38 large face 32 hallmark (90%) HP:0100729

UMLS symptoms related to Recombinant 8 Syndrome:


seizures

Drugs & Therapeutics for Recombinant 8 Syndrome

Drugs for Recombinant 8 Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 133)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3 50-28-2 5757
3
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
4
Ganirelix Approved Phase 4,Phase 3 123246-29-7, 124904-93-4 25081094
5
Lactulose Approved Phase 4 4618-18-2 11333
6
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
7
Desogestrel Approved Phase 4 54024-22-5 40973
8 Antirheumatic Agents Phase 4,Phase 1,Phase 2
9 Interleukin 1 Receptor Antagonist Protein Phase 4,Phase 1
10 Aromatase Inhibitors Phase 4
11 Deslorelin Phase 4
12 Estradiol 17 beta-cypionate Phase 4,Phase 3
13 Estradiol 3-benzoate Phase 4,Phase 3
14 Estradiol valerate Phase 4,Phase 3 979-32-8
15 Estrogen Antagonists Phase 4
16 Estrogens Phase 4
17 Hormone Antagonists Phase 4,Phase 3
18 Hormones Phase 4,Phase 3
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
20 Polyestradiol phosphate Phase 4,Phase 3
21 Steroid Synthesis Inhibitors Phase 4
22 Triptorelin Pamoate Phase 4
23 Chorionic Gonadotropin Phase 4,Phase 3
24 insulin Phase 4,Phase 3,Phase 1
25 Insulin, Globin Zinc Phase 4,Phase 3,Phase 1
26
Bilirubin Phase 4 635-65-4 5280352
27 Liver Extracts Phase 4,Phase 3
28 N-Methylaspartate Phase 4
29 Contraceptive Agents Phase 4
30 Contraceptives, Oral Phase 4
31 Contraceptives, Oral, Combined Phase 4
32 Progestins Phase 4,Phase 3
33 Follicle Stimulating Hormone Phase 4,Phase 3
34 alanine Nutraceutical Phase 4
35 Aspartic Acid Nutraceutical Phase 4
36
Darbepoetin alfa Approved, Investigational Phase 3 11096-26-7, 209810-58-2
37
Lenograstim Approved Phase 3 135968-09-1
38
Dalteparin Approved Phase 3 9005-49-6
39
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
40
Tinzaparin Approved Phase 3 9005-49-6, 9041-08-1 25244225
41
Warfarin Approved Phase 3 81-81-2 6691 54678486
42
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
43
Aldesleukin Approved Phase 3,Phase 1,Phase 2 85898-30-2, 110942-02-4
44
Benzocaine Approved Phase 3,Phase 2 1994-09-7, 94-09-7 2337
45
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
46
Daunorubicin Approved Phase 3 20830-81-3 30323
47 tannic acid Approved, Nutraceutical Phase 3,Phase 2
48 Adjuvants, Immunologic Phase 3,Phase 1,Phase 2
49 Hematinics Phase 3,Phase 1,Phase 2
50 Mitogens Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 73)

id Name Status NCT ID Phase Drugs
1 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
2 Comparison of Ovarian Mild Stimulation and Controlled Ovarian Stimulation in Poor Ovarian Responders Unknown status NCT01926210 Phase 4
3 Type of Gonadotropin and Embryo Kinetics of Development Unknown status NCT02402192 Phase 4 Corifollitropin alfa
4 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4 Recombinant Growth Hormone, Genotropin (Pfizer)
5 rHGH and Intestinal Permeability in Intestinal Failure Completed NCT01380366 Phase 4 Somatropin
6 Predictive Factors for Ovarian Stimulation Using a Fixed Daily Dose of 200 IU Recombinant FSH (Study 142003)(P05696) Completed NCT00778999 Phase 4 Marvelon
7 Ovarian Response to Recombinant Follicle Stimulating Hormone in Women With PCOS Recruiting NCT03252223 Phase 4 Recombinant Follicle Stimulating Hormone
8 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
9 Comparison Study of Standard Care Against Combination of Growth Factors Agents for Low-risk Myelodysplastic Syndromes Unknown status NCT01196715 Phase 3 Darbepoetin alpha;Filgrastim
10 Acute Venous Thrombosis: Thrombus Removal With Adjunctive Catheter-Directed Thrombolysis Completed NCT00790335 Phase 3 Recombinant tissue plasminogen activator (rt-PA)
11 Replacement GH Therapy After Bariatric Surgery in Patients With Very Severe Obesity Completed NCT00553852 Phase 3 Recombinant GH Saizen (Merck-Serono)
12 A Phase 3 Study of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 Completed NCT02230566 Phase 3 UX003
13 A Study to Investigate the Efficacy and Safety of a Single Injection of Corifollitropin Alfa (Organon 36286) for Ovarian Stimulation Using Daily Recombinant Follicle Stimulating Hormone (FSH) as Reference (P05787) Completed NCT00696800 Phase 3 Corifollitropin alfa;Placebo Corifollitropin alfa;Placebo RecFSH / follitropin beta;Ganirelix
14 Trial to Assess the Clinical Efficacy and Safety of MSJ-0011 in Inducing Ovulation in Anovulatory or Oligo-ovulatory Japanese Women Completed NCT01653743 Phase 3 MSJ-0011;urinary hCG (u-hCG);Follitropin alpha
15 Interleukin-2 Plus Antiretroviral Therapy for HIV-Infected Patients With Low CD4+ Counts (SILCAAT Study) Completed NCT00013611 Phase 3 Proleukin
16 An International Study to Evaluate Recombinant Interleukin-2 in HIV Positive Patients Taking Anti-retroviral Therapy Completed NCT00004978 Phase 3 Recombinant interleukin-2 (rIL-2)
17 Corifollitropin Alfa in Participants Undergoing Repeated Controlled Ovarian Stimulation (COS) Cycles Using a Multiple Dose Gonadatropin Releasing Hormone (GnRH) Antagonist Protocol (Study 38825)(P05714) Completed NCT00696878 Phase 3 Corifollitropin alfa;Progesterone
18 Daunorubicin & Cytarabine +/- Zosuquidar inTreating Older Patients With Newly Diagnosed Acute Myeloid Leukemia or Refractory Anemia Completed NCT00046930 Phase 3 cytarabine;daunorubicin hydrochloride;zosuquidar trihydrochloride;Placebo
19 Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome Recruiting NCT02231879 Phase 3 Plerixafor;G-CSF
20 Study to Evaluate if the Addition of r-hLH (Luveris®) to FSH From Day 8 of Ovarian Stimulation is Able to Decrease Total FSH Dose and to Improve Cycle Outcome in Infertile Women Undergoing ART, Who Required High FSH Dose in a Previous Cycle Terminated NCT01071200 Phase 3 Recombinant human Follicle Stimulating Hormone (r-hFSH) and Recombinant human Luteinizing Hormone (r-hLH);r-hFSH
21 An Efficacy and Safety Study of Corifollitropin Alfa (MK-8962) in Contrast to Recombinant FSH for Use in Controlled Ovarian Stimulation of Indian Women (P07056, Also Known as MK-8962-029) Withdrawn NCT01599494 Phase 3 MK-8962;recFSH;Ganirelix;human Chorionic Gonadotropin (hCG);Progesterone
22 Single-Blind, Controlled Safety and Immunogenicity Study of Recombinant MVA Virus to Treat HIV Infection Completed NCT00390078 Phase 1, Phase 2
23 A Randomized Trial of Recombinant Humanized Anti-IL-2 Receptor Antibody (Daclizumab) Versus Antithymocyte Globulin (ATG) to Treat the Cytopenia of Myelodysplastic Syndrome (MDS) Completed NCT00072969 Phase 2 Daclizumab
24 A Pharmacokinetic And Pharmacodynamic Study Of Oral Lenalidomide (Revlimid) In Subjects With Low- Or Intermediate-1-Risk Myelodysplastic Syndromes Completed NCT00910858 Phase 1, Phase 2 Lenalidomide;Recombinant human erythropoietin
25 MDCO-216 Infusions Leading to Changes in Atherosclerosis: A Novel Therapy in Development to Improve Cardiovascular Outcomes - Proof of Concept Intravascular Ultrasound (IVUS), Lipids, and Other Surrogate Biomarkers Trial Completed NCT02678923 Phase 1, Phase 2 MDCO-216;Placebo
26 Bevacizumab to Treat Kaposi's Sarcoma in HIV-Positive and HIV-Negative Patients Completed NCT00055237 Phase 2
27 Biological Therapy in Treating Patients With Advanced Myelodysplastic Syndrome, Acute or Chronic Myeloid Leukemia, or Acute Lymphoblastic Leukemia Who Are Undergoing Stem Cell Transplantation Completed NCT00052520 Phase 1, Phase 2
28 A Phase Il of a Therapeutic, Recombinant, Biologically Active HIV-1 Tat Protein Vaccine in HIV-Infected, Anti-Tat Negative, ARV-Treated Adult Volunteers Completed NCT01513135 Phase 2
29 A Phase II Safety and Immunogenicity Trial of Live Recombinant Canarypox ALVAC-HIV vCP205 With or Without HIV-1 SF-2 RGP120 in HIV-1 Uninfected Adult Volunteers Completed NCT00000871 Phase 2
30 Immunogenicity and Safety of 2 Schedules of ALVAC-HIV vCP1452 in Chronically HIV-Infected Patients Completed NCT00219362 Phase 2
31 Safety and Tolerability of Pegylated Interferon (PEG-IFN) Alfa-2a in HIV Infected People Completed NCT00078442 Phase 2 Pegylated interferon alfa-2a
32 Evaluation of the Safety of and Immune Response to an HIV Vaccine in Healthy Adults Completed NCT00051454 Phase 1, Phase 2
33 Safety of and Immune Response to a DNA HIV Vaccine Followed By an Adenoviral Vector HIV Vaccine in Healthy Adults Completed NCT00125970 Phase 2
34 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
35 Effect of Intermittent Aldesleukin Treatment With or Without Anti-HIV Drugs in HIV Infected People Completed NCT00110812 Phase 2 IL-2
36 Recombinant EphB4-HSA Fusion Protein and Azacitidine or Decitabine for Relapsed or Refractory Myelodysplastic Syndrome, Chronic Myelomonocytic Leukemia, or Acute Myeloid Leukemia Patients Previously Treated With a Hypomethylating Agent Recruiting NCT03146871 Phase 2 Azacitidine;Decitabine
37 An 8-week Study to Evaluate Safety and Efficacy of Recombinant Human Nerve Growth Factor (rhNGF) Eye Drops Solution Versus Vehicle in Patients With Dry Eye Recruiting NCT03019627 Phase 2 NGF
38 DNase Treatment for Dry Eyes Recruiting NCT02193490 Phase 1, Phase 2 DNase;Vehicle
39 Safety and Efficacy Study of Vaccine Schedule With Ad26.Mos.HIV and MVA-Mosaic in Human Immunodeficiency Virus (HIV)-Infected Adults Recruiting NCT02919306 Phase 1, Phase 2 Placebo
40 Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Active, not recruiting NCT01299727 Phase 1, Phase 2
41 A Safety and Immune Response Study of 2 Experimental HIV Vaccines Active, not recruiting NCT02404311 Phase 1, Phase 2
42 Safety, Tolerability, and Immunogenicity Study of Homologous Ad26 Mosaic Vector Vaccine Regimens or Heterologous Ad26 Mosaic and MVA Mosaic Vector Vaccine Regimens With Glycoprotein 140 (gp140) for Human Immunodeficiency Virus (HIV) Prevention Active, not recruiting NCT02315703 Phase 1, Phase 2 Placebo
43 HIV Reservoir Reduction With Interleukin-2 Not yet recruiting NCT03308786 Phase 2 Recombinant Interleukin-2
44 Laboratory-Treated T Cells in Treating Patients With High-Risk Relapsed Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Chronic Myelogenous Leukemia Previously Treated With Donor Stem Cell Transplant Suspended NCT01640301 Phase 1, Phase 2 Cyclophosphamide;Fludarabine Phosphate
45 IC14 Antibodies to Treat Individuals With Acute Lung Injury Terminated NCT00233207 Phase 2 IC14
46 Therapeutic Allogeneic Lymphocytes and Aldesleukin in Treating Patients With High-Risk or Recurrent Myeloid Leukemia After Undergoing Donor Stem Cell Transplant Terminated NCT00052598 Phase 1, Phase 2
47 Interleukin-12 and Interleukin-2 in Treating Patients With Mycosis Fungoides Terminated NCT00052377 Phase 1, Phase 2
48 Rasburicase and Allopurinol in Treating Patients With Hematologic Malignancies Terminated NCT01564277 Phase 2 rasburicase;allopurinol
49 Azacitidine With or Without Ceplene/Interleukin-2 in Patients With Higher Risk Myelodysplastic Syndromes Withdrawn NCT01324960 Phase 1, Phase 2 Ceplene®, IL-2, Azacitidine;Azacitidine
50 Safety and Effectiveness of an HIV DNA Vaccine Followed by an HIV Adenoviral Vector Vaccine for Prevention of HIV Infection in the Americas and Africa Withdrawn NCT00498056 Phase 2

Search NIH Clinical Center for Recombinant 8 Syndrome

Genetic Tests for Recombinant 8 Syndrome

Anatomical Context for Recombinant 8 Syndrome

MalaCards organs/tissues related to Recombinant 8 Syndrome:

39
Eye, Myeloid, Heart, Testes, T Cells, Lung, Kidney

Publications for Recombinant 8 Syndrome

Articles related to Recombinant 8 Syndrome:

id Title Authors Year
1
Revisiting recombinant 8 syndrome. ( 21739594 )
2011
2
Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome. ( 10712224 )
2000
3
Natural history of the recombinant (8) syndrome. ( 8256815 )
1993
4
Recombinant 8 syndrome: the pool of Hispanic pericentric inversion 8 carriers expands numerically and geographically. ( 1957873 )
1991
5
Review of radiologic and clinical findings in the recombinant 8 syndrome. ( 2027712 )
1991
6
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States. ( 3687942 )
1987

Variations for Recombinant 8 Syndrome

Expression for Recombinant 8 Syndrome

Search GEO for disease gene expression data for Recombinant 8 Syndrome.

Pathways for Recombinant 8 Syndrome

GO Terms for Recombinant 8 Syndrome

Sources for Recombinant 8 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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