ABDS
MCID: ATH001
MIFTS: 52

Athabaskan Brainstem Dysgenesis Syndrome (ABDS)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Athabaskan Brainstem Dysgenesis Syndrome

MalaCards integrated aliases for Athabaskan Brainstem Dysgenesis Syndrome:

Name: Athabaskan Brainstem Dysgenesis Syndrome 57 12 20 58 72 13 15
Bosley-Salih-Alorainy Syndrome 57 58 72 29 6 39 70
Navajo Brainstem Syndrome 57 12 20 58
Human Hoxa1 Syndromes 20 29 6
Abds 57 20 72
Bsas 20 72 17
Athabascan Brainstem Dysgenesis Syndrome 58 36
Athabaskan Brainstem Dysgenesis 20 70
Bosley Salih Alorainy Syndrome 20
Narvajo Brainstem Syndrome 72
Absd 58

Characteristics:

Orphanet epidemiological data:

58
athabaskan brainstem dysgenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
bosley-salih-alorainy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
two main overlapping phenotypes have been reported - bsas in middle eastern patients and abds in native american patients


HPO:

31
athabaskan brainstem dysgenesis syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050682
OMIM® 57 601536
KEGG 36 H00727
MESH via Orphanet 45 C535397
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1832215 C1832216
UMLS 70 C1832215 C1832216

Summaries for Athabaskan Brainstem Dysgenesis Syndrome

OMIM® : 57 Homozygous loss-of-function mutations in the HOXA1 gene result in disorders with variable phenotypic expressivity that span a spectrum. Two related, but somewhat distinctive, phenotypes have been described in different populations: the Athabaskan brainstem dysgenesis syndrome (ABDS) in Native Americans, and Bosley-Salih-Alorainy syndrome (BSAS) in individuals from the Middle East, including Turkey and Saudi Arabia. Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. More variable features, observed in both disorders, include conotruncal cardiac malformations, cerebral vascular malformations, and impaired intellectual development with autism. Unique to ABDS are central hypoventilation, often resulting in early death, facial weakness, and more severe cognitive deficits. These features are thought to be due to a more severe malformation of the hindbrain in ABDS compared to BSAS (summary by Tischfield et al., 2005). (601536) (Updated 20-May-2021)

MalaCards based summary : Athabaskan Brainstem Dysgenesis Syndrome, also known as bosley-salih-alorainy syndrome, is related to tukel syndrome and autism spectrum disorder. An important gene associated with Athabaskan Brainstem Dysgenesis Syndrome is HOXA1 (Homeobox A1), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Neural Crest Differentiation. The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and bone, and related phenotypes are sensorineural hearing impairment and delayed gross motor development

Disease Ontology : 12 A brain disease that is characterized by brainstem dysgenesis, has material basis in homozygous mutations in the HOXA1 gene.

GARD : 20 Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 syndromes have been described in Native American populations (primarily the Navajo and Apache Indians) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population. Human HOXA1 syndromes are caused by genetic changes ( DNA variants ) in the HOXA1 gene and inherited in an autosomal recessive pattern. Diagnosis is made based on the symptoms and confirmed by genetic testing. Treatment is based on managing the specific symptoms.

KEGG : 36 Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac malformations are also present in patients with these disorders.

UniProtKB/Swiss-Prot : 72 Athabaskan brainstem dysgenesis syndrome: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.
Bosley-Salih-Alorainy syndrome: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation.

Related Diseases for Athabaskan Brainstem Dysgenesis Syndrome

Diseases related to Athabaskan Brainstem Dysgenesis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 tukel syndrome 30.1 HOXB1 HOXA1
2 autism spectrum disorder 28.8 TSHZ3 HOXB1 HOXA1
3 moebius syndrome 10.2
4 branchiootic syndrome 1 10.2
5 melioidosis 9.9
6 disease by infectious agent 9.9
7 duane retraction syndrome 9.9
8 vaccinia 9.9
9 fetal thalidomide syndrome 9.9
10 isolated duane retraction syndrome 9.9
11 preaxial deficiency, postaxial polydactyly, and hypospadias 9.8 HOXB1 HOXA13
12 hypospadias 9.7 HOXA4 HOXA13
13 hand-foot-genital syndrome 9.6 HOXB1 HOXA4 HOXA13

Graphical network of the top 20 diseases related to Athabaskan Brainstem Dysgenesis Syndrome:



Diseases related to Athabaskan Brainstem Dysgenesis Syndrome

Symptoms & Phenotypes for Athabaskan Brainstem Dysgenesis Syndrome

Human phenotypes related to Athabaskan Brainstem Dysgenesis Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 delayed gross motor development 31 very rare (1%) HP:0002194
3 central hypoventilation 31 very rare (1%) HP:0007110
4 seizure 31 very rare (1%) HP:0001250
5 internal carotid artery hypoplasia 31 very rare (1%) HP:0005290
6 horizontal supranuclear gaze palsy 31 HP:0007817
7 duane anomaly 31 HP:0009921

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
constipation

Neurologic Behavioral Psychiatric Manifestations:
facial grimacing
sleep disturbances
autistic features

Neurologic Central Nervous System:
delayed motor development
delayed walking
poor or absent speech
developmental delay, variable severity
impaired intellectual development (abds)
more
Head And Neck Head:
large head circumference (in some patients with bsas)

Cardiovascular Vascular:
abnormalities of the internal carotid artery
abnormalities of other cerebral arteries

Skeletal Skull:
abnormal skull base

Head And Neck Eyes:
esotropia
nystagmus (in some patients)
duane retraction syndrome type 3
limited ocular movement
impaired abduction and adduction
more
Head And Neck Ears:
sensorineural deafness
common cavity deformity of the inner ear
structural abnormalities of the inner ear
defective vestibular system
malformations of the inner ear bones
more
Cardiovascular Heart:
septal defects
conotruncal heart defects

Head And Neck Face:
facial palsy (abds)
bulbar weakness (abds)

Respiratory:
central hypoventilation (abds)

Clinical features from OMIM®:

601536 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Athabaskan Brainstem Dysgenesis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.43 HOXA1 HOXA13 HOXA4 HOXB1 MEOX1 TSHZ3
2 skeleton MP:0005390 9.02 HOXA1 HOXA13 HOXA4 HOXB1 MEOX1

Drugs & Therapeutics for Athabaskan Brainstem Dysgenesis Syndrome

Drugs for Athabaskan Brainstem Dysgenesis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 324)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Clonidine Approved Phase 4 4205-90-7 2803
4
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
5
Pemetrexed Approved, Investigational Phase 4 150399-23-8, 137281-23-3 446556 60843
6
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
7
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
8
Ondansetron Approved Phase 4 99614-02-5 4595
9
Mercaptopurine Approved Phase 4 50-44-2 667490
10
Azathioprine Approved Phase 4 446-86-6 2265
11
Fluorouracil Approved Phase 4 51-21-8 3385
12
Bevacizumab Approved, Investigational Phase 4 216974-75-3
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
14 Adrenergic Agents Phase 4
15 Adrenergic alpha-Agonists Phase 4
16 Adrenergic Agonists Phase 4
17 Estradiol 3-benzoate Phase 4
18 Contraceptive Agents Phase 4
19 Estradiol 17 beta-cypionate Phase 4
20 Estrogens Phase 4
21 Sympatholytics Phase 4
22 Adjuvants, Immunologic Phase 4
23 Dermatologic Agents Phase 4
24 Folic Acid Antagonists Phase 4
25 Vitamin B9 Phase 4
26 Vitamin B Complex Phase 4
27 Folate Phase 4
28 Anti-Inflammatory Agents Phase 4
29
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
30
Epirubicin Approved Phase 2, Phase 3 56420-45-2 41867
31
Lapatinib Approved, Investigational Phase 2, Phase 3 231277-92-2, 388082-78-8 208908 9941095
32
Flutamide Approved, Investigational Phase 3 13311-84-7 3397
33
Buserelin Approved, Investigational Phase 3 57982-77-1
34
Nilutamide Approved, Investigational Phase 3 63612-50-0 4493
35
Triclosan Approved, Investigational Phase 3 3380-34-5 5564
36
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
37
Entecavir Approved, Investigational Phase 3 142217-69-4 153941
38
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
39
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
40
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
41
Nevirapine Approved Phase 3 129618-40-2 4463
42
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
43
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
44
leucovorin Approved Phase 3 58-05-9 6006
45
Tegafur Approved, Investigational Phase 3 17902-23-7 5386
46
Methoxsalen Approved Phase 3 298-81-7 4114
47
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
48
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
49
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
50
tannic acid Approved Phase 3 1401-55-4

Interventional clinical trials:

(show top 50) (show all 202)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Risk-stratified Randomized Controlled Trial in Paediatric Crohn Disease:Methotrexate vs Azathioprine or Adalimumab for Maintaining Remission in Patients at Low or High Risk for Aggressive Disease Course, respectively-a Treatment Strategy Recruiting NCT02852694 Phase 4 Methotrexate;Adalimumab;Azathioprine / 6 Mercaptopurine
3 Individualized Pemetrexed Dosing in Patients With Non-small Cell Lung Cancer or Mesothelioma Based on Renal Function to Improve Treatment Response Recruiting NCT03655821 Phase 4 Pemetrexed
4 A Prospective, Randomized, Open-label Trial Comparing OnDose® AUC Optimized 5-FU Based Administration Versus Standard Body Surface Area (BSA) Dosing in Metastatic Colorectal Cancer Patients (mCRC) Treated With mFOLFOX6 Terminated NCT01468623 Phase 4
5 A Efficacy and Tolerability Study of Uracil/Ftorafur/Leucovorin Combined With Oxaliplatin (TEGAFOX) Sequential S-1 or SOX Sequential S-1 and S-1 Monotherapy in the Treatment of Adjuvant Chemotherapy for Gastric Cancer Unknown status NCT02817425 Phase 2, Phase 3 SOX Sequential S-1;SOX;TEGAFOX Sequential S-1.
6 Phase Ⅱ/Ⅲ Study of Preoperative Concurrent Chemoradiotherapy for Locally Advanced Gastroesophageal Junction or Upper Gastric Adenocarcinoma Unknown status NCT02193594 Phase 2, Phase 3 Adjuvant chemotherapy
7 The Long-term Effect of D4 Lymphadenectomy for Gastric Cancer: a Multicenter, Open-label, Randomized Trial Unknown status NCT02423278 Phase 2, Phase 3 S-1+Oxaliplatin
8 Phase III, Randomized, Multicenter, Controlled Evaluation of S-1 and Oxaliplatin as Neoadjuvant Chemotherapy for Advanced Gastric Cancer Patients Unknown status NCT01583361 Phase 3 Oxaliplatin+S-1;Adjuvant Oxaliplatin/S-1(SOX)
9 Phase 3, Randomized, Open-label Study of the Safety of Individual Paclitaxel Dose Adjustment Based on Pharmacokinetic Follow up Versus Conventional Dosage in First-line Treatment in Patients With Advanced Non-Small Cell Lung Cancer (NSCLC) Unknown status NCT02058433 Phase 3
10 A Randomised Phase II/III Trial of Peri-Operative Chemotherapy With or Without Bevacizumab in Operable Oesophagogastric Adenocarcinoma and A Feasibility Study Evaluating Lapatinib in HER-2 Positive Oesophagogastric Adenocarcinomas and (in Selected Centres) MRI and PET/CT Sub-studies Unknown status NCT00450203 Phase 2, Phase 3 capecitabine;cisplatin;Epirubicin;Lapatinib
11 Phase III Randomized Trial Comparing Total Androgen Blockade Versus Total Androgen Blockade Plus Pelvic Irradiation in Clinical Stage T3-4, N0, M0 Adenocarcinoma of the Prostate Completed NCT00002633 Phase 3 bicalutamide;buserelin;flutamide;goserelin;leuprolide acetate;nilutamide
12 An Open-Label, Multicenter, Randomized, Phase 3 Study of S-1 and Cisplatin Compared With 5-FU and Cisplatin in Patients With Metastatic Diffuse Gastric Cancer Previously Untreated With Chemotherapy Completed NCT01285557 Phase 3 S-1 (Tegafur/Gimeracil/Oteracil) /cisplatin (investigational arm);Fluorouracil/cisplatin (control arm)
13 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study of the Safety, Efficacy, and Pharmacokinetics of the Human Anti-TNF Monoclonal Antibody Adalimumab in Children With Polyarticular Juvenile Idiopathic Arthritis Completed NCT00048542 Phase 3 OLE BSA Adalimumab +/- MTX;OLE FD Adalimumab +/- MTX
14 Abdomen Closure Using Triclosan Coated Absorbable Suture vs Uncoated Sutures of the Same Base Material Completed NCT01620294 Phase 3
15 Phase III Trial of 3-weekly vs. 5-weekly Schedule of S-1 Plus Cisplatin Combination Chemotherapy for First Line Treatment of Advanced Gastric Cancer. Completed NCT00915382 Phase 3 S-1 and cisplatin;S-1 and cisplatin
16 Determination of the Optimal Prophylactic Platelet Dose Strategy to Prevent Bleeding in Thrombocytopenic Patients (A TMH CTN Study) Completed NCT00128713 Phase 3
17 A Randomized, Double-blind, Multi-center, Multi-national Trial to Evaluate the Efficacy, Safety, and Immunogenicity of SAIT101 Versus Rituximab as a First-line Immunotherapy Treatment in Patients With Low Tumor Burden Follicular Lymphoma Completed NCT02809053 Phase 3
18 A Phase IIIb, Randomized, Open-Label Study of Pegylated Interferon Alfa-2A in Combination With Lamivudine or Entecavir Compared With Untreated Control Patients in Children With HBeAg Positive Chronic Hepatitis B in the Immune-Tolerant Phase Completed NCT02263079 Phase 3 Entecavir;Lamivudine;Pegylated Interferon Alfa-2A
19 A Randomized Comparison of Three Regimens of Chemotherapy With Compatible Antiretroviral Therapy for Treatment of Advanced AIDS-KS in Resource-Limited Settings Completed NCT01435018 Phase 3 Etoposide (ET);Bleomycin and Vincristine (BV);Paclitaxel (PTX);Co-formulated Efavirenz/Emtricitabine/Tenofovir Disoproxil Fumarate (EFV/FTC/TDF)
20 Evaluation of the Efficacy of Adalimumab for the Treatment of Uveitis in Juvenile Idiopathic Arthritis: Randomized Double-blind Placebo-controlled Trial Completed NCT01385826 Phase 2, Phase 3 Anti-tumor necrosis factor alpha monoclonal antibody;placebo
21 Perioperative Systemic Therapy and Cytoreductive Surgery With HIPEC Versus Upfront Cytoreductive Surgery With HIPEC Alone for Isolated Resectable Colorectal Peritoneal Metastases: a Multicentre, Open-label, Parallel-group, Phase II-III, Randomised Superiority Study Recruiting NCT02758951 Phase 2, Phase 3
22 Multicentre, Open-label, Randomised, Controlled, Parallel Arms Clinical Trial of Induction Chemotherapy Followed by Chemoradiotherapy Versus Chemoradiotherapy Alone as Neoadjuvant Treatment for Locally Recurrent Rectal Cancer - PelvEx II Recruiting NCT04389086 Phase 3 Combination drug
23 Precision Promise Platform Trial for Metastatic Pancreatic Cancer Recruiting NCT04229004 Phase 3 Gemcitabine combined with nab-paclitaxel;Dose -SM-88;Dose -mFOLFIRINOX
24 A Randomized, Controlled, Multicenter Study to Compare Preoperative Radiochemotherapy With Preoperative Chemotherapy in Patients With Locally Advanced Gastric or Esophagogastric Junction Adenocarcinoma (PREACT Study) Recruiting NCT03013010 Phase 3 Tegafur-Gimeracil-Oteracil Potassium;Oxaliplatin
25 A Phase III, Randomized, Double-blind Trial Comparing Trastuzumab Plus Chemotherapy and Pembrolizumab With Trastuzumab Plus Chemotherapy and Placebo as First-line Treatment in Participants With HER2 Positive Advanced Gastric or Gastroesophageal Junction Adenocarcinoma (KEYNOTE 811) Recruiting NCT03615326 Phase 3 Cisplatin;5-FU;Oxaliplatin;Capecitabine;S-1
26 A Prospective, Multicenter, Randomized, Controlled Phase III Study Evaluating Different Cycles of Oxaliplatin Combined With S-1 (SOX) as Neoadjuvant Chemotherapy for Patients With Locally Advanced Gastric Cancer: RESONANCE-II Trial Recruiting NCT04483076 Phase 3 Chemotherapy drug
27 A Randomized Phase III Study Comparing POF (Paclitaxel/Oxaliplatin/Leucovorin/5-FU) With SOX/CAPOX/FOLFOX as a Postoperative Adjuvant Chemotherapy for Curatively Resected Stage III Gastric Cancer Recruiting NCT03788226 Phase 3 POF;CAPOX/SOX/FOLFOX
28 A Randomized, Controlled, Multi-center, Phase Ⅲ Clinical Study to Investigate Recombinant Humanized Anti-PD-1 Monoclonal Antibody Injection Toripalimab (JS001) Versus Dacarbazine as the First Line Therapy for Unresectable or Metastatic Melanoma Recruiting NCT03430297 Phase 3 Dacarbazine 1000mg/m2 Q3W
29 A Phase III Study of Hyperthermic Intraperitoneal Chemotherapy in the Treatment of Locally Advanced Gastric Cancer After radIcal Gastrectomy With D2 Recruiting NCT02356276 Phase 3 Systemic chemotherapy (XELOX or SOX regimens)
30 High-Risk Neuroblastoma Study 2 of SIOP-Europa-Neuroblastoma (SIOPEN) Recruiting NCT04221035 Phase 3 Vincristine;Carboplatin;Etoposide;Cyclophosphamide;Vindesine;Dacarbazine;Ifosfamide;Doxorubicin;Busulfan;Melphalan;Thiotepa;Dinutuximab Beta;Cisplatin
31 Efficacy and Safety Evaluation of Sintilimab or Placebo in Combination With XELOX as First Line Treatment in Patients With Gastric Cancer Recruiting NCT03745170 Phase 3 Sintilimab;Oxaliplatin;Capecitabine;placebo
32 A Phase 3 Study of the Efficacy, Safety and Pharmacokinetics of Ustekinumab as Open-label Intravenous Induction Treatment Followed by Randomized Double-blind Subcutaneous Ustekinumab Maintenance in Pediatric Participants With Moderately to Severely Active Ulcerative Colitis Recruiting NCT04630028 Phase 3 Ustekinumab Dose Based on BSA and Body Weight;Matching Placebo
33 A Phase 3 Multi-institutional Study for Treatment of Children With Newly Diagnosed Hepatoblastoma Using a Modified PHITT Strategy Incorporating a Randomized Assessment of Sodium Thiosulfate as Otoprotection for Children With Localized Disease, and Response Adapted Therapy for Patients With Metastatic Disease Recruiting NCT04478292 Phase 3 Sodium Thiosulfate Injection;mono CDDP-Group A2;Cisplatin, 5-Fluorouracil, Vincristine, Doxorubicin-Group C;mono CDDP- Group B;Block 1 to 3 (Cisplatin, Doxorubicin) Group D;Consolidation (Carboplatin, Doxorubicin) -Group D1;Consolidation (Carboplatin +Doxorubicin/Vincristine + Irinotecan)-Group D2
34 A Randomized, Multicenter, Controlled, Adaptive II/III Study to Compare Neoadjuvant Chemotherapy of Docetaxel,Oxaliplatin Combined With S-1(DOS) Versus Oxaliplatin Combined With S-1(SOX)in Locally Advanced Gastric Adenocarcinoma (RESOLVE-2 Study) Active, not recruiting NCT03691454 Phase 2, Phase 3 Docetaxel;Oxaliplatin
35 A Randomized, Multicenter, Controlled Phase III Study to Compare Perioperative Chemotherapy of Oxaliplatin Combined With S-1(SOX) Versus SOX or Oxaliplatin With Capecitabine (XELOX) as Post-operative Chemotherapy in Locally Advanced Gastric Adenocarcinoma With D2 Dissection Active, not recruiting NCT01534546 Phase 3 Oxaliplatin capecitabine;Oxaliplatin S-1;Oxaliplatin S-1
36 A Multicenter, Open-Label Trial of Intravenous Golimumab, a Human Anti-TNFα Antibody, in Pediatric Subjects With Active Polyarticular Course Juvenile Idiopathic Arthritis Despite Methotrexate Therapy Active, not recruiting NCT02277444 Phase 3 Golimumab;Methotrexate
37 A Phase 3 Placebo-Controlled Study of Carboplatin/Paclitaxel With or Without Concurrent and Continuation Maintenance Veliparib (PARP Inhibitor) in Subjects With Previously Untreated Stages III or IV High-Grade Serous Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Active, not recruiting NCT02470585 Phase 3 Veliparib;Paclitaxel;Carboplatin
38 S-1 Plus Docetaxel(DS) Versus S-1 Plus Oxaliplatin(SOX) as Postoperative Therapy for Stage II / III Gastric Cancer, a Randomized Controlled Trial Not yet recruiting NCT03961867 Phase 3 Docetaxel;Oxaliplatin
39 An Open-Label, Single-Arm, Multicenter Study, of Combination Anti-CD3/CD7 Immunotoxin (T-Guard) for Steroid-Refractory Acute Graft-versus-Host Disease. Terminated NCT04128319 Phase 3 T-Guard
40 Bevacizumab Plus Capecitabin vs S-1 as Maintenance Treatment Following First-line Chemotherapy in the Patients With Advanced Colorectal Adenocarcinoma. A Phase 3 Randomised Controlled Trial Withdrawn NCT03708536 Phase 3 S-1;Bevacizumab;Capecitabine
41 A Randomized, Open-Label, Comparative, Parallel-Group, Multicenter Study of SPARC1507 in Subjects With Cancer Withdrawn NCT02597465 Phase 3 SPARC1507;Reference1507
42 Phase 11 Study of Cilengitide in Combination With Concurrent Chemotherapy and Radiotherapy Followed by Protracted Daily Low Dose Temozolomide and Low Dose Procarbazine D1 - 20 in Newly Diagnosed Glioblastoma Without Methylation of the MGMT Promoter Gene Unknown status NCT01124240 Phase 2 Cilengitide
43 A Phase II, Single Arm, Open Label Study to Evaluate the Efficacy and Safety of the Combination of S-1, Irinotecan and Oxaliplatin (SIRIOX) in Treating Patients With Advanced Inoperable or Metastatic Pancreatic Cancer Unknown status NCT03403101 Phase 2 S1;Oxaliplatin;Irinotecan
44 A Randomized Phase II Study of Oxaliplatin and S-1 (SOX) Versus Oxaliplatin and Capecitabine (XELOX) in Patients With Peritoneal Metastasis of Colorectal Cancer Unknown status NCT02870153 Phase 2 SOX;XELOX
45 Apatinib Combined With S-1 in the Second-line Treatment of Advanced Pancreatic Cancer Unknown status NCT03662035 Phase 2 Apatinib;S-1
46 A Study of Intraperitoneal and Intravenous Paclitaxel Plus Apatinib and S-1 Conversion Therapy for Gastric Cancer With Positive Exfoliative Cancer Cells Unknown status NCT03718624 Phase 2 apatinib;paclitaxel;S-1
47 Maintenance Treatment With S-1 Versus Observation After First-line Chemotherapy in Patients With Advanced Gastric Cancer: a Randomized Phase II Study Unknown status NCT03701373 Phase 2 S-1 maintenance
48 Multicenter Phase I/II Feasibility Study of Adjuvant Treatment With S-1 in Patients After R0-Resection of Adenocarcinoma of the Stomach and Esophagogastric Junction Unknown status NCT02564367 Phase 1, Phase 2 S-1
49 Phase ⅡTrial of S1 Capsule Plus Cisplatin Versus Vinorelbine Plus Cisplatin as Adjuvant Treatment in Stage Ⅱ-ⅢA Non-small Cell Lung Cancer (NSCLC) After Complete Resection Unknown status NCT02223611 Phase 2 S1 capsule;Vinorelbine
50 Phase II Exploratory Study of S-1 Combined With Oxaliplatin Sequential S-1 Single-agent First-line Treatment of Unresectable Metastatic or Locally Advanced Biliary System, Periampullary Cancer and Pancreatic Cancer Unknown status NCT01811277 Phase 2 SOX sequential S-1

Search NIH Clinical Center for Athabaskan Brainstem Dysgenesis Syndrome

Genetic Tests for Athabaskan Brainstem Dysgenesis Syndrome

Genetic tests related to Athabaskan Brainstem Dysgenesis Syndrome:

# Genetic test Affiliating Genes
1 Bosley-Salih-Alorainy Syndrome 29
2 Human Hoxa1 Syndromes 29 HOXA1

Anatomical Context for Athabaskan Brainstem Dysgenesis Syndrome

MalaCards organs/tissues related to Athabaskan Brainstem Dysgenesis Syndrome:

40
T Cells, Bone Marrow, Bone, Prostate, Endothelial, Lung, Heart

Publications for Athabaskan Brainstem Dysgenesis Syndrome

Articles related to Athabaskan Brainstem Dysgenesis Syndrome:

# Title Authors PMID Year
1
The clinical spectrum of homozygous HOXA1 mutations. 6 61 57
18412118 2008
2
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. 57 6
16155570 2005
3
Clinical characterization of the HOXA1 syndrome BSAS variant. 57 61
17875913 2007
4
Athabascan brainstem dysgenesis syndrome. 57
12833395 2003
5
Generation of a novel functional neuronal circuit in Hoxa1 mutant mice. 57
11466434 2001
6
Southwestern Athabaskan (Navajo and Apache) genetic diseases. 57
11258351 1999
7
Bosley-Salih-Alorainy syndrome in patients from India. 61
32864817 2020
8
Cardiovascular defects in a mouse model of HOXA1 syndrome. 61
21940751 2012
9
When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances. 61
22153632 2011

Variations for Athabaskan Brainstem Dysgenesis Syndrome

ClinVar genetic disease variations for Athabaskan Brainstem Dysgenesis Syndrome:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXA1 NM_005522.4(HOXA1):c.175dup (p.Val59fs) Duplication Pathogenic 14898 rs769152039 GRCh37: 7:27135356-27135357
GRCh38: 7:27095737-27095738
2 HOXA1 NM_005522.4(HOXA1):c.84C>G (p.Tyr28Ter) SNV Pathogenic 14899 rs104894017 GRCh37: 7:27135448-27135448
GRCh38: 7:27095829-27095829
3 HOXA1 NM_005522.4(HOXA1):c.76C>T (p.Arg26Ter) SNV Pathogenic 14900 rs104894018 GRCh37: 7:27135456-27135456
GRCh38: 7:27095837-27095837
4 HOXA1 NM_005522.4(HOXA1):c.185del (p.Gly62fs) Deletion Pathogenic 14901 rs1562700083 GRCh37: 7:27135347-27135347
GRCh38: 7:27095728-27095728
5 HOXA1 NM_005522.4(HOXA1):c.175dup (p.Val59fs) Duplication Pathogenic 14898 rs769152039 GRCh37: 7:27135356-27135357
GRCh38: 7:27095737-27095738
6 HOXA1 NM_005522.5(HOXA1):c.972del (p.Ser325fs) Deletion Pathogenic 997451 GRCh37: 7:27134095-27134095
GRCh38: 7:27094476-27094476
7 HOXA1 NM_005522.5(HOXA1):c.36C>G (p.Tyr12Ter) SNV Pathogenic 997558 GRCh37: 7:27135496-27135496
GRCh38: 7:27095877-27095877
8 HOXA1 NM_005522.5(HOXA1):c.294C>G (p.Ser98Arg) SNV Uncertain significance 911504 GRCh37: 7:27135238-27135238
GRCh38: 7:27095619-27095619
9 HOXA1 NM_005522.5(HOXA1):c.*345C>T SNV Uncertain significance 909316 GRCh37: 7:27133714-27133714
GRCh38: 7:27094095-27094095
10 HOXA1 NM_005522.5(HOXA1):c.*337G>A SNV Uncertain significance 909317 GRCh37: 7:27133722-27133722
GRCh38: 7:27094103-27094103
11 HOXA1 NM_005522.5(HOXA1):c.*281C>G SNV Uncertain significance 909318 GRCh37: 7:27133778-27133778
GRCh38: 7:27094159-27094159
12 HOXA1 NM_005522.5(HOXA1):c.*232G>A SNV Uncertain significance 909319 GRCh37: 7:27133827-27133827
GRCh38: 7:27094208-27094208
13 HOXA1 NM_005522.5(HOXA1):c.*183G>C SNV Uncertain significance 909320 GRCh37: 7:27133876-27133876
GRCh38: 7:27094257-27094257
14 HOXA1 NM_005522.5(HOXA1):c.122C>T (p.Ala41Val) SNV Uncertain significance 909395 GRCh37: 7:27135410-27135410
GRCh38: 7:27095791-27095791
15 HOXA1 NM_005522.5(HOXA1):c.63G>A (p.Gly21=) SNV Uncertain significance 909396 GRCh37: 7:27135469-27135469
GRCh38: 7:27095850-27095850
16 HOXA1 NM_005522.5(HOXA1):c.-26C>A SNV Uncertain significance 909397 GRCh37: 7:27135557-27135557
GRCh38: 7:27095938-27095938
17 LOC113748384 , HOXA1 NM_005522.5(HOXA1):c.-86C>A SNV Uncertain significance 909398 GRCh37: 7:27135617-27135617
GRCh38: 7:27095998-27095998
18 HOXA1 , LOC113748384 NC_000007.14:g.27096001A>G SNV Uncertain significance 909399 GRCh37: 7:27135620-27135620
GRCh38: 7:27096001-27096001
19 HOXA1 , LOC113748384 NC_000007.14:g.27096002T>C SNV Uncertain significance 909400 GRCh37: 7:27135621-27135621
GRCh38: 7:27096002-27096002
20 HOXA1 NM_005522.5(HOXA1):c.813C>T (p.Thr271=) SNV Uncertain significance 910288 GRCh37: 7:27134254-27134254
GRCh38: 7:27094635-27094635
21 HOXA1 NM_005522.5(HOXA1):c.686C>A (p.Pro229His) SNV Uncertain significance 910289 GRCh37: 7:27134381-27134381
GRCh38: 7:27094762-27094762
22 HOXA1 NM_005522.4(HOXA1):c.216T>C (p.His72=) SNV Uncertain significance 359965 rs886062260 GRCh37: 7:27135316-27135316
GRCh38: 7:27095697-27095697
23 HOXA1 NM_005522.4(HOXA1):c.255C>G (p.Asn85Lys) SNV Uncertain significance 359964 rs886062259 GRCh37: 7:27135277-27135277
GRCh38: 7:27095658-27095658
24 HOXA1 NM_005522.4(HOXA1):c.*1150C>T SNV Uncertain significance 359944 rs886062254 GRCh37: 7:27132909-27132909
GRCh38: 7:27093290-27093290
25 HOXA1 NM_005522.4(HOXA1):c.*953G>A SNV Uncertain significance 359945 rs528003903 GRCh37: 7:27133106-27133106
GRCh38: 7:27093487-27093487
26 HOXA1 NM_005522.4(HOXA1):c.196C>T (p.His66Tyr) SNV Uncertain significance 359968 rs777153568 GRCh37: 7:27135336-27135336
GRCh38: 7:27095717-27095717
27 HOXA1 NM_005522.4(HOXA1):c.71C>T (p.Ser24Leu) SNV Uncertain significance 359971 rs886062262 GRCh37: 7:27135461-27135461
GRCh38: 7:27095842-27095842
28 HOXA1 NM_005522.4(HOXA1):c.*1345T>C SNV Uncertain significance 359943 rs114796827 GRCh37: 7:27132714-27132714
GRCh38: 7:27093095-27093095
29 HOXA1 NM_005522.4(HOXA1):c.825C>T (p.Ile275=) SNV Uncertain significance 359954 rs886062257 GRCh37: 7:27134242-27134242
GRCh38: 7:27094623-27094623
30 HOXA1 NM_005522.4(HOXA1):c.207C>T (p.His69=) SNV Uncertain significance 359967 rs577426612 GRCh37: 7:27135325-27135325
GRCh38: 7:27095706-27095706
31 HOXA1 NM_005522.4(HOXA1):c.653-12A>G SNV Uncertain significance 359957 rs761281990 GRCh37: 7:27134426-27134426
GRCh38: 7:27094807-27094807
32 HOXA1 NM_005522.4(HOXA1):c.*250G>C SNV Uncertain significance 359950 rs886062256 GRCh37: 7:27133809-27133809
GRCh38: 7:27094190-27094190
33 HOXA1 NM_005522.4(HOXA1):c.*563G>C SNV Uncertain significance 359947 rs117011404 GRCh37: 7:27133496-27133496
GRCh38: 7:27093877-27093877
34 HOXA1 NM_005522.4(HOXA1):c.165G>A (p.Val55=) SNV Uncertain significance 359970 rs886062261 GRCh37: 7:27135367-27135367
GRCh38: 7:27095748-27095748
35 HOXA1 NM_005522.4(HOXA1):c.*1387C>G SNV Uncertain significance 359942 rs558870068 GRCh37: 7:27132672-27132672
GRCh38: 7:27093053-27093053
36 HOXA1 NM_005522.4(HOXA1):c.435C>T (p.His145=) SNV Uncertain significance 359963 rs200448150 GRCh37: 7:27135097-27135097
GRCh38: 7:27095478-27095478
37 HOXA1 NM_005522.4(HOXA1):c.*183G>A SNV Uncertain significance 359951 rs186304469 GRCh37: 7:27133876-27133876
GRCh38: 7:27094257-27094257
38 HOXA1 NM_005522.4(HOXA1):c.549C>A (p.Leu183=) SNV Uncertain significance 359960 rs778780253 GRCh37: 7:27134983-27134983
GRCh38: 7:27095364-27095364
39 HOXA1 NM_005522.4(HOXA1):c.*181G>A SNV Uncertain significance 359952 rs145102625 GRCh37: 7:27133878-27133878
GRCh38: 7:27094259-27094259
40 HOXA1 NM_005522.4(HOXA1):c.566A>C (p.Glu189Ala) SNV Uncertain significance 359958 rs17500494 GRCh37: 7:27134966-27134966
GRCh38: 7:27095347-27095347
41 HOXA1 NM_005522.4(HOXA1):c.691G>A (p.Ala231Thr) SNV Uncertain significance 359956 rs779419910 GRCh37: 7:27134376-27134376
GRCh38: 7:27094757-27094757
42 HOXA1 NM_005522.4(HOXA1):c.216T>C (p.His72=) SNV Uncertain significance 359965 rs886062260 GRCh37: 7:27135316-27135316
GRCh38: 7:27095697-27095697
43 HOXA1 NM_005522.4(HOXA1):c.741G>A (p.Glu247=) SNV Uncertain significance 359955 rs143597165 GRCh37: 7:27134326-27134326
GRCh38: 7:27094707-27094707
44 HOXA1 NM_005522.4(HOXA1):c.*331C>A SNV Uncertain significance 359949 rs886062255 GRCh37: 7:27133728-27133728
GRCh38: 7:27094109-27094109
45 HOXA1 NM_005522.4(HOXA1):c.194A>C (p.His65Pro) SNV Uncertain significance 359969 rs146782650 GRCh37: 7:27135338-27135338
GRCh38: 7:27095719-27095719
46 HOXA1 NM_005522.4(HOXA1):c.552C>A (p.His184Gln) SNV Uncertain significance 359959 rs768265195 GRCh37: 7:27134980-27134980
GRCh38: 7:27095361-27095361
47 HOXA1 NM_005522.4(HOXA1):c.546T>C (p.Pro182=) SNV Uncertain significance 359961 rs886062258 GRCh37: 7:27134986-27134986
GRCh38: 7:27095367-27095367
48 HOXA1 NM_005522.4(HOXA1):c.*183G>A SNV Uncertain significance 359951 rs186304469 GRCh37: 7:27133876-27133876
GRCh38: 7:27094257-27094257
49 HOXA1 NM_005522.5(HOXA1):c.*1058T>A SNV Uncertain significance 908470 GRCh37: 7:27133001-27133001
GRCh38: 7:27093382-27093382
50 HOXA1 NM_005522.5(HOXA1):c.*980C>G SNV Uncertain significance 908471 GRCh37: 7:27133079-27133079
GRCh38: 7:27093460-27093460

Expression for Athabaskan Brainstem Dysgenesis Syndrome

Search GEO for disease gene expression data for Athabaskan Brainstem Dysgenesis Syndrome.

Pathways for Athabaskan Brainstem Dysgenesis Syndrome

Pathways related to Athabaskan Brainstem Dysgenesis Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 HOXB1 HOXA1
2 10.63 HOXB1 HOXA1

GO Terms for Athabaskan Brainstem Dysgenesis Syndrome

Cellular components related to Athabaskan Brainstem Dysgenesis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.43 TSHZ3 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1
2 chromatin GO:0000785 9.1 TSHZ3 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1

Biological processes related to Athabaskan Brainstem Dysgenesis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.67 MEOX1 HOXB1 HOXA13 HOXA1
2 regulation of transcription, DNA-templated GO:0006355 9.65 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1
3 regulation of transcription by RNA polymerase II GO:0006357 9.63 TSHZ3 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1
4 anterior/posterior pattern specification GO:0009952 9.46 HOXB1 HOXA4
5 inner ear development GO:0048839 9.43 HOXA13 HOXA1
6 embryonic skeletal system morphogenesis GO:0048704 9.4 HOXB1 HOXA4
7 artery morphogenesis GO:0048844 9.32 HOXA13 HOXA1
8 anatomical structure morphogenesis GO:0009653 9.26 HOXB1 HOXA4 HOXA13 HOXA1
9 multicellular organism development GO:0007275 9.1 TSHZ3 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1

Molecular functions related to Athabaskan Brainstem Dysgenesis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.67 MEOX1 HOXB1 HOXA13 HOXA1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1
3 DNA binding GO:0003677 9.63 TSHZ3 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.62 MEOX1 HOXB1 HOXA13 HOXA1
5 DNA-binding transcription factor activity GO:0003700 9.58 MEOX1 HOXA4 HOXA13
6 sequence-specific double-stranded DNA binding GO:1990837 9.35 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 TSHZ3 MEOX1 HOXB1 HOXA4 HOXA13 HOXA1

Sources for Athabaskan Brainstem Dysgenesis Syndrome

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
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32 ICD10
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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