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MCID: ATS010
MIFTS: 48

Autosomal Recessive Disease

Categories: Genetic diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Autosomal Recessive Disease

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MalaCards integrated aliases for Autosomal Recessive Disease:

Name: Autosomal Recessive Disease 12 15 17
Autosomal Recessive Disorder 15

Classifications:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050737
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Summaries for Autosomal Recessive Disease

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Disease Ontology : 12 An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.

MalaCards based summary : Autosomal Recessive Disease, also known as autosomal recessive disorder, is related to trichothiodystrophy 4, nonphotosensitive and trichothiodystrophy. An important gene associated with Autosomal Recessive Disease is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Nucleotide excision repair and RNA Polymerase I Promoter Escape. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 74 A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be... more...

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Related Diseases for Autosomal Recessive Disease

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Diseases related to Autosomal Recessive Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1171)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 4, nonphotosensitive 32.3 GTF2H5 ERCC3
2 trichothiodystrophy 32.2 GTF2H5 ERCC6 ERCC3 ERCC2
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.2 TTPA PNKP FXN
4 xeroderma pigmentosum, complementation group f 32.2 ERCC6 ERCC3 ERCC2
5 metachromatic leukodystrophy 32.1 IDUA ERCC2 ARSA
6 trichothiodystrophy 1, photosensitive 32.1 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
7 xeroderma pigmentosum, complementation group d 32.0 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
8 uv-sensitive syndrome 32.0 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
9 xeroderma pigmentosum, complementation group a 32.0 H2AC18 ERCC6 ERCC2
10 aspartylglucosaminuria 30.5 IDUA ERCC6 ARSA
11 ichthyosis 30.5 GTF2H5 ERCC6 ERCC3 ERCC2 ARSA
12 peripheral nervous system disease 30.5 H2AC18 FXN ERCC6 AGRN
13 xeroderma pigmentosum, variant type 30.4 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
14 spastic ataxia, charlevoix-saguenay type 30.3 TTPA FXN
15 autosomal dominant cerebellar ataxia 30.3 TTPA PNKP H2AC18 FXN ERCC6
16 skin carcinoma 30.3 TYR H2AC18 ERCC6 ERCC3 ERCC2
17 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 30.2 ERCC6 BSCL2
18 frem1 autosomal recessive disorders 12.3
19 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 12.2
20 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 12.2
21 autosomal recessive disease with focal palmoplantar keratoderma as a major feature 12.2
22 wilson disease 11.3
23 aceruloplasminemia 11.3
24 bloom syndrome 11.2
25 donnai-barrow syndrome 11.2
26 dyggve-melchior-clausen disease 11.2
27 crisponi/cold-induced sweating syndrome 1 11.2
28 desmosterolosis 11.2
29 congenital cataracts, hearing loss, and neurodegeneration 11.2
30 lipoid congenital adrenal hyperplasia 11.1
31 neuropathy, hereditary sensory and autonomic, type iii 11.1
32 fructose intolerance, hereditary 11.1
33 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.1
34 plasminogen deficiency, type i 11.1
35 meckel syndrome, type 1 11.1
36 mucolipidosis ii alpha/beta 11.1
37 neurodegeneration with brain iron accumulation 2a 11.1
38 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.1
39 nephronophthisis 3 11.1
40 acrocapitofemoral dysplasia 11.1
41 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.1
42 hereditary sensory neuropathy 11.1
43 sclerosteosis 11.1
44 cold-induced sweating syndrome 11.1
45 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
46 folate malabsorption, hereditary 11.1
47 chylomicron retention disease 11.1
48 abetalipoproteinemia 11.0
49 corticosterone methyloxidase type i deficiency 11.0
50 argininosuccinic aciduria 11.0

Graphical network of the top 20 diseases related to Autosomal Recessive Disease:



Diseases related to Autosomal Recessive Disease
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Symptoms & Phenotypes for Autosomal Recessive Disease

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GenomeRNAi Phenotypes related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 SLC19A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.77 ERCC2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.77 BCS1L FXN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.77 SLC19A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.77 BCS1L
6 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.77 SLC19A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.77 SLC19A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.77 SLC19A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.77 FXN GTF2H5 TTPA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.77 FXN GTF2H5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.77 FXN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.77 ERCC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.77 BCS1L
14 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.77 SLC19A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.77 ERCC2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.77 FXN GTF2H5 TTPA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.77 ERCC2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.77 BCS1L
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.77 TTPA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.77 GTF2H5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 FXN
22 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.77 SLC19A2

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 AGRN ARSA BCS1L BSCL2 CFI CTSK
2 behavior/neurological MP:0005386 10.32 AGRN ARSA BCS1L BSCL2 ERCC2 ERCC3
3 cellular MP:0005384 10.31 BCS1L BSCL2 CTSK ERCC2 ERCC3 ERCC6
4 growth/size/body region MP:0005378 10.26 AGRN BCS1L BSCL2 CTSK ERCC2 ERCC3
5 immune system MP:0005387 10.18 ARSA BCS1L BSCL2 CTSK ERCC2 ERCC6
6 mortality/aging MP:0010768 10.13 AGRN BCS1L BSCL2 ERCC2 ERCC3 ERCC6
7 nervous system MP:0003631 10.1 AGRN ARSA BSCL2 CTSK ERCC2 ERCC6
8 hearing/vestibular/ear MP:0005377 9.93 ARSA ERCC6 IDUA SLC19A2 SLC26A4 TYR
9 limbs/digits/tail MP:0005371 9.91 AGRN BSCL2 CTSK ERCC6 IDUA SLC26A2
10 renal/urinary system MP:0005367 9.7 AGRN BCS1L BSCL2 CFI IDUA SLC26A4
11 reproductive system MP:0005389 9.65 BCS1L BSCL2 CTSK ERCC2 ERCC3 IDUA
12 skeleton MP:0005390 9.28 BSCL2 CTSK ERCC2 ERCC3 ERCC6 IDUA
Sources

Drugs & Therapeutics for Autosomal Recessive Disease

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Drugs for Autosomal Recessive Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 201)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
9
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
11
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
12
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
13
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
14
Cortisone Experimental Phase 4 53-06-5 222786
15 Epinephryl borate Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Gastrointestinal Agents Phase 4
18 Methylprednisolone Acetate Phase 4
19 Antiemetics Phase 4
20 glucocorticoids Phase 4
21 Hydrocortisone-17-butyrate Phase 4
22 Hydrocortisone 17-butyrate 21-propionate Phase 4
23 Hydrocortisone hemisuccinate Phase 4
24 Laxatives Phase 4
25 Cathartics Phase 4
26 Polyethylene glycol 3350 Phase 4
27
Zinc Approved, Investigational Phase 3 7440-66-6 32051
28
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
29
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
30
Colistin Approved Phase 3 1264-72-8, 1066-17-7 5311054
31
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
32
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
33
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
34
Ezetimibe Approved Phase 3 163222-33-1 150311
35
Ipratropium Approved, Experimental Phase 3 60205-81-4, 22254-24-6 43232 657309
36
Carbidopa Approved Phase 3 28860-95-9 34359
37
Tobramycin Approved, Investigational Phase 3 32986-56-4 36294 5496
38 Liarozole Investigational Phase 2, Phase 3 115575-11-6
39 Calcineurin Inhibitors Phase 2, Phase 3
40 Anticonvulsants Phase 3
41 Neurotransmitter Agents Phase 3
42 Antifungal Agents Phase 2, Phase 3
43 Androgen Antagonists Phase 2, Phase 3
44 Androgens Phase 2, Phase 3
45 Anti-Asthmatic Agents Phase 3
46 Bronchodilator Agents Phase 3
47 Antitubercular Agents Phase 2, Phase 3
48 Neuroprotective Agents Phase 2, Phase 3
49 Cyclosporins Phase 2, Phase 3
50 Dopamine Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 127)
# Name Status NCT ID Phase Drugs
1 Congenital Adrenal Hyperplasia: Innovative Once Daily Dual Release Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
2 PICO: Phenylalanine and Its Impact on Cognition - Impact of Phenylalanine on Cognitive, Cerebral and Neurometabolic Parameters in Adult Patients With Phenylketonuria Recruiting NCT03788343 Phase 4 Placebo
3 Cystic Fibrosis and Gut Dysmotility: The Effect of Polyethylene Glycol (PEG) on Intestinal Transit Recruiting NCT04210427 Phase 4 Polyethylene Glycol 3350
4 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
5 A Study to Determine the Safety and Efficacy in Lipoprotein Lipase-Deficient Subjects After Intramuscular Administration of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein LipaseS447X Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
6 Phase3, Open-Label, Clinical Trial of Zinc Acetate for Treatment of Wilson's Disease in Japan. Completed NCT00212355 Phase 3 NPC-02
7 A Randomized, Double-blind, Placebo-controlled Phase II/III Trial to Evaluate the Efficacy and Safety of 2 Doses of Oral Liarozole (75 mg od and 150 mg od) Given During 12 Weeks in Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
8 Combined Dry Powder Tobramycin and Nebulized Colistin Inhalation in CF Patients Completed NCT03341741 Phase 3 Tobramycin Powder;Colistin
9 An Open-label Study to Assess the Efficacy and Safety of Alipogene Tiparvovec (AMT-011), Human LPL [S447X], Expressed by an Adeno-Associated Viral Vector After Intramuscular Administration in LPL-deficient Adult Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
10 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
11 A Study to Assess Adding Ezetimibe 30 mg to Ongoing Treatment With Ezetimibe 10 mg in Patients With Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
12 The Effects of Bronchodilator Therapy On Respiratory and Autonomic Function in Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
13 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
14 Efficacy of Antibiotic (Tobramycin) Delivered by Nebulized Sonic Aerosol for Chronic Rhinosinusitis Treatment of Cystic Fibrosis Patients: A Multicenter Double-blind Randomized Controlled Trial Recruiting NCT02888730 Phase 3 Tobramycin nebulized nasally;Physiologic serum nebulized nasally
15 A Multicenter, Double-Blind, Placebo Controlled, Phase II Study of Aerosolized tgAAVCF for the Treatment of Cystic Fibrosis Terminated NCT00073463 Phase 2, Phase 3
16 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
17 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
18 Anti-inflammatory Pulmonal Therapy of CF Patients With Amitriptyline and Placebo - a Randomised, Double-blind, Placebo-controlled, Multicenter, Cohort - Study Unknown status NCT01309178 Phase 2 Amitriptyline;Mannite
19 PILOTSTUDIE ZUR PYRIDOXALPHOSPHATTHERAPIE BEI PATIENTEN MIT PRIMÄRER HYPEROXALURIE TYP I (PHOX-B6-PILOT) Pilot Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
20 Safety and Tolerability of Inhaled Nitric Oxide in Patients With Cystic Fibrosis Completed NCT00570349 Phase 1, Phase 2 Nitric Oxide for Inhalation;Nitric Oxide for Inhalation;Nitrogen
21 and Safety of METAZYM (Recombinant Human Arylsulfatase A or rhASA) for the Treatment of Patients With Late Infantile MLD Who Had Previously Hematopoietic Stem Cell Transplantation Completed NCT01303146 Phase 2 rhARSA
22 A Phase I/II Multicenter Open-label Dose Escalation Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy Completed NCT01510028 Phase 1, Phase 2
23 Protocol for a Phase II-Study Anti-Inflammatory Pulmonal Therapy of CF-Patients With Amitriptyline and Placebo - Randomised, Double-Blinded, Placebo-Controlled, Cross Over - Study - Completed NCT00515229 Phase 2 amitriptyline
24 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
25 Nasal Potential Studies Utilizing CFTR Modulators (UAB Center for Clinical and Translational Science) Completed NCT01348204 Phase 2
26 Targeted Delivery of Nitric Oxide by Hemoglobin to Improve Regional Blood Flow in Sickle Cell Disease Completed NCT00009581 Phase 2 L-NMMA;Acetylcholine
27 Physiologic Effects of Inhaled Nitric Oxide, Nitroglycerin, and Placebo in Study Subjects With Sickle Cell Anemia Completed NCT00001716 Phase 2 Nitric Oxide;Nitroglycerin
28 Niacin Therapy to Improve Endothelial Function in Sickle Cell Disease Completed NCT00508989 Phase 2 Niacin-ER;Placebo;L-NMMA;Acetylcholine
29 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
30 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
31 Use of Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Recruiting NCT03366142 Phase 1, Phase 2 Ustekinumab
32 The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation Recruiting NCT02910531 Phase 2 Placebo
33 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
34 Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
35 Pharmacokinetic Evaluation and Tolerability of Dry Powder Tobramycin Via the Cyclops® in Children With Cystic Fibrosis Recruiting NCT03485456 Phase 1, Phase 2 Tobramycin
36 The Nutritional Supplement Phosphatidylserine in Patients With Familial Recruiting NCT02276716 Phase 2 Phosphatidylserine
37 An Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients With Metachromatic Leukodystrophy Active, not recruiting NCT01887938 Phase 1, Phase 2
38 An Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human β-Galactosidase cDNA for Treatment of GM1 Gangliosidosis Not yet recruiting NCT04273269 Phase 1, Phase 2
39 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
40 Treatment of Pulmonary Hypertension and Sickle Cell Disease With Sildenafil Therapy Terminated NCT00492531 Phase 2 Sildenafil;Placebo
41 A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
42 The Safety , Tolerability and Efficacy of Dronabinol, a Synthetic Endocannabinoid Receptor Agonist, for the Treatment of Nausea and Vomiting in Patients With Familial Dysautonomia Withdrawn NCT02608931 Phase 2 Dronabinol
43 A Phase 2 Multi-center, Randomized, Double-blind, Comparator-Controlled Dose Finding Study to Evaluate MP4CO for the Acute Treatment of Vaso-occlusive Crises in Subjects With Sickle Cell Disease Withdrawn NCT01925001 Phase 2 MP4CO;Sodium chloride solution
44 An Observational Study of the Immunopathogenesis of and Response to Step-Up Inflammatory Bowel Disease Therapy for Hermansky-Pudlak Syndrome-Associated Colitis Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
45 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
46 The Safety and Tolerability of Kinetin, a Nutritional Supplement That Corrects the Splicing Defect, in Patients With Familial Dysautonomia Completed NCT02274051 Phase 1
47 Cardiopulmonary Function Assessment and NO Based Therapies for Patients With Hemolysis-Associated Pulmonary Hypertension Completed NCT00352430 Phase 1 Nitric Oxide/INP Pulse Delivery;Nitric Oxide/INO Pulse Delivery
48 Therapeutic Application of Intravascular Nitrite for Sickle Cell Disease Completed NCT00095472 Phase 1 L-NMMA;Sodium Nitrite
49 Inhaled Nitric Oxide and Transfusion Therapy for Patients With Sickle Cell Anemia and Secondary Pulmonary Hypertension Completed NCT00023296 Phase 1 Nitric Oxide
50 Atorvastatin Therapy To Improve Endothelial Function in Sickle Cell Disease Completed NCT00072826 Phase 1 Oxypurinol;L-NMMA;Acetylcholine

Search NIH Clinical Center for Autosomal Recessive Disease

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Genetic Tests for Autosomal Recessive Disease

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Anatomical Context for Autosomal Recessive Disease

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MalaCards organs/tissues related to Autosomal Recessive Disease:

40
Liver, Brain, Bone, Testes, Lung, Skin, Kidney
Sources

Publications for Autosomal Recessive Disease

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Articles related to Autosomal Recessive Disease:

(show top 50) (show all 9674)
# Title Authors PMID Year
1
A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family. 61
32470407 2020
2
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation. 61
32422350 2020
3
Prophylactic Decompression for Cervical Stenosis in Jeune Syndrome: Report From a Single Institution. 61
32539291 2020
4
Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. 61
32471643 2020
5
Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA. 61
31897472 2020
6
Intracranial iron distribution and quantification in aceruloplasminemia: A case study. 61
32114188 2020
7
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population. 61
32067433 2020
8
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. 61
32297715 2020
9
Genetic Variation Near chrXq22-q23 Is Linked to Emotional Functioning in Cystic Fibrosis. 61
32390518 2020
10
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. 61
32360765 2020
11
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. 61
32532881 2020
12
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype. 61
32532207 2020
13
Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child. 61
32045704 2020
14
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation. 61
32521499 2020
15
Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population. 61
32540817 2020
16
National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years. 61
32483343 2020
17
Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells. 61
32520327 2020
18
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. 61
32505691 2020
19
Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes. 61
32560273 2020
20
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation. 61
32196989 2020
21
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. 61
32071926 2020
22
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020
23
Newborn screening for isovaleric acidemia in Quanzhou, China. 61
32505769 2020
24
Cystic fibrosis-related diabetes: The unmet need. 61
32547695 2020
25
Triple-A Syndrome (TAS): an in-depth overview on genetic and phenotype heterogeneity. 61
32533814 2020
26
Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in CYP11B2. 61
32539318 2020
27
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy. 61
32576952 2020
28
Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease. 61
32572769 2020
29
A girl with lethargy and severe electrolyte imbalance. 61
32549023 2020
30
Generation of ZJUi003-A, an induced pluripotent stem cell line from a Wilson's disease patient carrying a c.180_181del mutation in ATP7B gene. 61
32534167 2020
31
Pseudodominance in two families with KCNV2 related retinopathy. 61
32154435 2020
32
New insights on the clinical variability of FKBP10 mutations. 61
32531462 2020
33
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. 61
32533184 2020
34
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis. 61
32173090 2020
35
Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review. 61
32535845 2020
36
Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. 61
32173957 2020
37
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations. 61
32140415 2020
38
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome. 61
32077159 2020
39
Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome. 61
32341820 2020
40
Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome. 61
32457102 2020
41
Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing. 61
32490033 2020
42
Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed! 61
32504456 2020
43
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis. 61
32539862 2020
44
UPR modulation of host immunity by P. aeruginosa in cystic fibrosis. 61
32537652 2020
45
The burden of familial chylomicronemia syndrome in Canadian patients. 61
32487261 2020
46
Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report. 61
32522149 2020
47
Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus. 61
32408537 2020
48
Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia. 61
32361878 2020
49
Genetically confirmed CARASIL: A case report with a novel HTRA1 mutation and literature review. 61
32445900 2020
50
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain. 61
32043565 2020
Sources

Variations for Autosomal Recessive Disease

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Expression for Autosomal Recessive Disease

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Search GEO for disease gene expression data for Autosomal Recessive Disease.
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Pathways for Autosomal Recessive Disease

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Pathways related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Nucleotide excision repair 36
Show member pathways
 11.52 GTF2H5 ERCC6 ERCC3 ERCC2
2
RNA Polymerase I Promoter Escape 65
Show member pathways
 10.97 GTF2H5 ERCC6 ERCC3 ERCC2
3
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
10.59 ERCC6 ERCC3 ERCC2
Sources

GO Terms for Autosomal Recessive Disease

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Cellular components related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.46 IDUA CTSK ARSA AGRN
2 transcription factor TFIID complex GO:0005669 9.43 GTF2H5 ERCC3 ERCC2
3 transcription factor TFIIH holo complex GO:0005675 9.13 GTF2H5 ERCC3 ERCC2
4 transcription factor TFIIH core complex GO:0000439 8.8 GTF2H5 ERCC3 ERCC2

Biological processes related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10 PNKP GTF2H5 ERCC6 ERCC3 ERCC2
2 DNA repair GO:0006281 9.96 PNKP GTF2H5 ERCC6 ERCC3 ERCC2
3 transcription by RNA polymerase II GO:0006366 9.92 GTF2H5 ERCC6 ERCC3 ERCC2
4 response to oxidative stress GO:0006979 9.81 PNKP ERCC6 ERCC3 ERCC2
5 DNA duplex unwinding GO:0032508 9.77 ERCC6 ERCC3 ERCC2
6 transcription elongation from RNA polymerase II promoter GO:0006368 9.76 GTF2H5 ERCC3 ERCC2
7 nucleotide-excision repair GO:0006289 9.72 GTF2H5 ERCC3 ERCC2
8 nucleotide-excision repair, DNA incision GO:0033683 9.71 GTF2H5 ERCC3 ERCC2
9 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.7 GTF2H5 ERCC3 ERCC2
10 transcription initiation from RNA polymerase I promoter GO:0006361 9.67 GTF2H5 ERCC3 ERCC2
11 7-methylguanosine mRNA capping GO:0006370 9.65 GTF2H5 ERCC3 ERCC2
12 sulfate transport GO:0008272 9.63 SLC26A4 SLC26A2
13 sulfate transmembrane transport GO:1902358 9.63 SLC26A4 SLC26A2
14 termination of RNA polymerase I transcription GO:0006363 9.63 GTF2H5 ERCC3 ERCC2
15 UV protection GO:0009650 9.62 ERCC3 ERCC2
16 response to pH GO:0009268 9.61 TTPA ARSA
17 nucleotide-excision repair, preincision complex assembly GO:0006294 9.61 GTF2H5 ERCC3 ERCC2
18 oxalate transport GO:0019532 9.59 SLC26A4 SLC26A2
19 vitamin transport GO:0051180 9.58 TTPA SLC19A2
20 global genome nucleotide-excision repair GO:0070911 9.58 GTF2H5 ERCC3 ERCC2
21 hair cell differentiation GO:0035315 9.57 ERCC3 ERCC2
22 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.54 GTF2H5 ERCC3 ERCC2
23 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.5 GTF2H5 ERCC3 ERCC2
24 transcription-coupled nucleotide-excision repair GO:0006283 9.46 GTF2H5 ERCC6 ERCC3 ERCC2
25 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.43 GTF2H5 ERCC3 ERCC2
26 response to UV GO:0009411 9.26 TYR ERCC6 ERCC3 ERCC2
27 transcription elongation from RNA polymerase I promoter GO:0006362 8.92 GTF2H5 ERCC6 ERCC3 ERCC2

Molecular functions related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 PNKP IDUA ERCC6 ERCC3 ERCC2 CTSK
2 protein N-terminus binding GO:0047485 9.65 ERCC6 ERCC3 ERCC2
3 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.49 ERCC3 ERCC2
4 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A4 SLC26A2
5 chloride transmembrane transporter activity GO:0015108 9.43 SLC26A4 SLC26A2
6 DNA helicase activity GO:0003678 9.43 ERCC6 ERCC3 ERCC2
7 bicarbonate transmembrane transporter activity GO:0015106 9.4 SLC26A4 SLC26A2
8 secondary active sulfate transmembrane transporter activity GO:0008271 9.37 SLC26A4 SLC26A2
9 oxalate transmembrane transporter activity GO:0019531 9.32 SLC26A4 SLC26A2
10 damaged DNA binding GO:0003684 9.13 PNKP ERCC3 ERCC2
11 DNA-dependent ATPase activity GO:0008094 8.8 ERCC6 ERCC3 ERCC2
Sources

Sources for Autosomal Recessive Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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