MCID: ATS010
MIFTS: 48

Autosomal Recessive Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Recessive Disease

MalaCards integrated aliases for Autosomal Recessive Disease:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0050737

Summaries for Autosomal Recessive Disease

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 aceruloplasminemia and xeroderma pigmentosum, variant type. An important gene associated with Autosomal Recessive Disease is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are DNA Damage and Lysosome. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Autosomal Recessive Disease

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

(show top 50) (show all 1162)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 32.7 TYR TTPA H2AC18 FXN BCS1L
2 xeroderma pigmentosum, variant type 32.5 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
3 nonphotosensitive trichothiodystrophy 32.3 GTF2H5 ERCC3
4 metachromatic leukodystrophy 32.2 IDUA ERCC2 ARSA
5 xeroderma pigmentosum, complementation group f 32.2 ERCC6 ERCC3 ERCC2
6 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.2 TTPA PNKP FXN
7 uv-sensitive syndrome 32.0 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
8 trichothiodystrophy 1, photosensitive 32.0 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
9 xeroderma pigmentosum, complementation group d 32.0 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
10 xeroderma pigmentosum, complementation group a 32.0 H2AC18 ERCC6 ERCC2
11 vitamin e, familial isolated deficiency of 31.4 TTPA FXN
12 ichthyosis 30.3 GTF2H5 ERCC3 ERCC2 ARSA
13 autosomal dominant cerebellar ataxia 30.3 TTPA PNKP H2AC18 FXN ERCC6
14 skin carcinoma 30.3 TYR H2AC18 ERCC6 ERCC3 ERCC2
15 inherited metabolic disorder 30.2 IDUA H2AC18 ARSA
16 frem1 autosomal recessive disorders 12.3
17 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 12.1
18 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 12.1
19 autosomal recessive disease with focal palmoplantar keratoderma as a major feature 12.1
20 wilson disease 11.3
21 insensitivity to pain, congenital, with anhidrosis 11.2
22 crisponi/cold-induced sweating syndrome 1 11.2
23 desmosterolosis 11.2
24 congenital cataracts, hearing loss, and neurodegeneration 11.2
25 cystic fibrosis 11.1
26 lipoid congenital adrenal hyperplasia 11.1
27 bardet-biedl syndrome 11.1
28 neuropathy, hereditary sensory and autonomic, type iii 11.1
29 bowen-conradi syndrome 11.1
30 epidermodysplasia verruciformis 1 11.1
31 fructose intolerance, hereditary 11.1
32 osteoporosis-pseudoglioma syndrome 11.1
33 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.1
34 plasminogen deficiency, type i 11.1
35 dyggve-melchior-clausen disease 11.1
36 meckel syndrome, type 1 11.1
37 megacystis-microcolon-intestinal hypoperistalsis syndrome 11.1
38 mucolipidosis ii alpha/beta 11.1
39 neurodegeneration with brain iron accumulation 2a 11.1
40 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.1
41 nephronophthisis 3 11.1
42 acrocapitofemoral dysplasia 11.1
43 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.1
44 hereditary sensory neuropathy 11.1
45 sclerosteosis 11.1
46 cold-induced sweating syndrome 11.1
47 otospondylomegaepiphyseal dysplasia 11.1
48 chylomicron retention disease 11.1
49 abetalipoproteinemia 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

Symptoms & Phenotypes for Autosomal Recessive Disease

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

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.42 FXN
2 Decreased viability GR00301-A 10.42 FXN
3 Decreased viability GR00342-S-1 10.42 PNKP
4 Decreased viability GR00342-S-2 10.42 PNKP
5 Decreased viability GR00342-S-3 10.42 PNKP
6 Decreased viability GR00381-A-1 10.42 AGXT CTSK IDUA SLC26A2
7 Decreased viability GR00402-S-2 10.42 AGXT ARSA BCS1L BSCL2 CTSK ERCC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.36 ERCC2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.36 SLC19A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.36 ERCC2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.36 ERCC2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.36 BCS1L
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.36 ERCC2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.36 BCS1L ERCC2 FXN GTF2H5 SLC19A2 TTPA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.36 SLC19A2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.36 FXN GTF2H5 TTPA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.36 ERCC2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.36 FXN GTF2H5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.36 ERCC2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.36 ERCC2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.36 BCS1L
22 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.36 ERCC2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.36 FXN GTF2H5 TTPA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.36 BCS1L
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.36 BCS1L
26 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.36 TTPA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.36 ERCC2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.36 GTF2H5
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.36 FXN
30 no effect GR00402-S-1 9.62 AGXT ARSA BCS1L BSCL2 CTSK ERCC2
31 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 ERCC2 ERCC3 ERCC6 GTF2H5 PNKP RAD21

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 AGXT ARSA BCS1L BSCL2 CTSK ERCC2
2 cellular MP:0005384 10.25 BCS1L BSCL2 CTSK ERCC2 ERCC3 ERCC6
3 behavior/neurological MP:0005386 10.23 ARSA BCS1L BSCL2 ERCC2 ERCC3 ERCC6
4 immune system MP:0005387 10.1 ARSA BSCL2 CTSK ERCC2 ERCC6 FXN
5 mortality/aging MP:0010768 10.07 BCS1L BSCL2 ERCC2 ERCC3 ERCC6 FXN
6 nervous system MP:0003631 9.93 ARSA CTSK ERCC2 ERCC6 FXN IDUA
7 hearing/vestibular/ear MP:0005377 9.88 ARSA ERCC6 IDUA SLC19A2 SLC26A4 TYR
8 reproductive system MP:0005389 9.7 BCS1L BSCL2 CTSK ERCC2 ERCC3 IDUA
9 skeleton MP:0005390 9.28 BSCL2 CTSK ERCC2 ERCC3 ERCC6 IDUA

Drugs & Therapeutics for Autosomal Recessive Disease

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

(show top 50) (show all 217)
# 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
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
10
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
11
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
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 Antiemetics Phase 4
18 Methylprednisolone Acetate Phase 4
19 Autonomic Agents Phase 4
20 glucocorticoids Phase 4
21 Anti-Asthmatic Agents Phase 4
22 Bronchodilator Agents Phase 4
23 Adrenergic Agents Phase 4
24 Sympathomimetics Phase 4
25 Hydrocortisone hemisuccinate Phase 4
26 Adrenergic Agonists Phase 4
27 Hydrocortisone 17-butyrate 21-propionate Phase 4
28 Hydrocortisone-17-butyrate Phase 4
29 Vasoconstrictor Agents Phase 4
30 Adrenergic beta-Agonists Phase 4
31 BB 1101 Phase 4
32 Mydriatics Phase 4
33
Zinc Approved, Investigational Phase 3 7440-66-6 32051
34
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
35
Colistin Approved Phase 3 1066-17-7, 1264-72-8 5311054
36
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
37
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
38
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
39
Ezetimibe Approved Phase 3 163222-33-1 150311
40
Ipratropium Approved, Experimental Phase 3 22254-24-6, 60205-81-4 43232 657309
41
Carbidopa Approved Phase 3 28860-95-9 34359
42
Tobramycin Approved, Investigational Phase 3 32986-56-4 5496 36294
43 Liarozole Investigational Phase 2, Phase 3 115575-11-6
44 Dermatologic Agents Phase 2, Phase 3
45 Calcineurin Inhibitors Phase 2, Phase 3
46 Neurotransmitter Agents Phase 3
47 Anticonvulsants Phase 3
48 Antifungal Agents Phase 2, Phase 3
49 Androgens Phase 2, Phase 3
50 Androgen Antagonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 119)
# 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 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
4 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
5 Phase3, Open-Label, Clinical Trial of Zinc Acetate for Treatment of Wilson's Disease in Japan. Completed NCT00212355 Phase 3 NPC-02
6 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
7 Combined Dry Powder Tobramycin and Nebulized Colistin Inhalation in CF Patients Completed NCT03341741 Phase 3 Tobramycin Powder;Colistin
8 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
9 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
10 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
11 The Effects of Bronchodilator Therapy On Respiratory and Autonomic Function in Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
12 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
13 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
14 A Multicenter, Double-Blind, Placebo Controlled, Phase II Study of Aerosolized tgAAVCF for the Treatment of Cystic Fibrosis Terminated NCT00073463 Phase 2, Phase 3
15 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
16 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
17 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
18 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
19 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
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 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
23 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
24 Niacin Therapy to Improve Endothelial Function in Sickle Cell Disease Completed NCT00508989 Phase 2 Niacin-ER;Placebo;L-NMMA;Acetylcholine
25 Targeted Delivery of Nitric Oxide by Hemoglobin to Improve Regional Blood Flow in Sickle Cell Disease Completed NCT00009581 Phase 2 L-NMMA;Acetylcholine
26 Physiologic Effects of Inhaled Nitric Oxide, Nitroglycerin, and Placebo in Study Subjects With Sickle Cell Anemia Completed NCT00001716 Phase 2 Nitric Oxide;Nitroglycerin
27 Nasal Potential Studies Utilizing CFTR Modulators (UAB Center for Clinical and Translational Science) Completed NCT01348204 Phase 2
28 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
29 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
30 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
31 The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation Recruiting NCT02910531 Phase 2 Placebo
32 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
33 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
34 Pharmacokinetic Evaluation and Tolerability of Dry Powder Tobramycin Via the Cyclops® in Children With Cystic Fibrosis Recruiting NCT03485456 Phase 1, Phase 2 Tobramycin
35 The Nutritional Supplement Phosphatidylserine in Patients With Familial Recruiting NCT02276716 Phase 2 Phosphatidylserine
36 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
37 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
38 Treatment of Pulmonary Hypertension and Sickle Cell Disease With Sildenafil Therapy Terminated NCT00492531 Phase 2 Sildenafil;Placebo
39 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
40 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
41 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
42 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
43 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
44 The Safety and Tolerability of Kinetin, a Nutritional Supplement That Corrects the Splicing Defect, in Patients With Familial Dysautonomia Completed NCT02274051 Phase 1
45 Atorvastatin Therapy To Improve Endothelial Function in Sickle Cell Disease Completed NCT00072826 Phase 1 Oxypurinol;L-NMMA;Acetylcholine
46 Inhaled Nitric Oxide and Transfusion Therapy for Patients With Sickle Cell Anemia and Secondary Pulmonary Hypertension Completed NCT00023296 Phase 1 Nitric Oxide
47 Therapeutic Application of Intravascular Nitrite for Sickle Cell Disease Completed NCT00095472 Phase 1 L-NMMA;Sodium Nitrite
48 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
49 Acute Effects of Canagliflozin, a Sodium Glucose Co-Transporter 2 (SGLT2) Inhibitor on Bone Metabolism in Healthy Volunteers Completed NCT02404870 Phase 1 Placebo;Canagliflozin
50 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)

Search NIH Clinical Center for Autosomal Recessive Disease

Genetic Tests for Autosomal Recessive Disease

Anatomical Context for Autosomal Recessive Disease

MalaCards organs/tissues related to Autosomal Recessive Disease:

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

Publications for Autosomal Recessive Disease

Articles related to Autosomal Recessive Disease:

(show top 50) (show all 9500)
# Title Authors PMID Year
1
Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients. 61
31956508 2020
2
Novel splice site and nonsense variants in INVS cause infantile nephronophthisis. 61
31706999 2020
3
LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors. 61
31892015 2020
4
Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association? 61
31196706 2020
5
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature. 61
31701331 2020
6
Glutathione synthetase deficiency: a novel mutation with femur agenesis. 61
31198081 2020
7
Liver Transplantation in Adults with Wilson Disease for Neuropsychiatric Phenotype: Are we There Yet? 61
32031727 2020
8
Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group. 61
31767214 2020
9
Mevalonic aciduria: Does stem cell transplant fully cure disease? 61
31651069 2020
10
Similarities between pediatric FMF patients with sacroiliitis and pediatric juvenile spondyloarthropathy patients with sacroiliitis: a preliminary study. 61
32009575 2020
11
Anesthetic Management of an Adult Patient With Hyaline Fibromatosis Syndrome Undergoing Laparoscopic Colectomy: A Case Report. 61
31842195 2020
12
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
13
The Role of Discoidin Domain Receptor 2 in Tooth Development. 61
31869264 2020
14
A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity. 61
31821692 2020
15
Concurrent heterozygous Von-Hippel-Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis. 61
31568062 2020
16
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 61
31435881 2020
17
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del. 61
32028041 2020
18
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease. 61
32007091 2020
19
GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies. 61
31761523 2020
20
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease. 61
31253477 2020
21
Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARγ expression. 61
31776610 2020
22
Effect of Liver Transplant on Neurologic Manifestations and Brain Magnetic Resonance Imaging Findings in Wilson Disease. 61
32008504 2020
23
NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION. 61
31557081 2020
24
Pulmonary alveolar microlithiasis: A report of two unique cases. 61
31890557 2020
25
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. 61
30677517 2020
26
Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in Npc1-Null Cells. 61
32019132 2020
27
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. 61
31854126 2020
28
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. 61
31655922 2020
29
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. 61
31701440 2020
30
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease. 61
32028086 2020
31
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. 61
30682496 2020
32
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant. 61
31985178 2020
33
Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA. 61
31897472 2020
34
Cystic fibrosis in the year 2020: A disease with a new face. 61
31899933 2020
35
Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy. 61
32021357 2020
36
Fraser syndrome without cryptophthalmos: Two cases. 61
31923588 2020
37
Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism 61
31914726 2020
38
Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases. 61
31626855 2020
39
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. 61
31571209 2020
40
Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome. 61
31444703 2020
41
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. 61
30602132 2020
42
Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23. 61
31965220 2020
43
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome. 61
31906877 2020
44
Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia. 61
31982544 2020
45
Multiple acyl-COA dehydrogenase deficiency in elderly carriers. 61
31997039 2020
46
The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease. 61
31875618 2020
47
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. 61
31633297 2020
48
Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy. 61
32037099 2020
49
Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings. 61
32029942 2020
50
The effect of genotype on musculoskeletal complaints in patients with familial Mediterranean fever. 61
31903829 2020

Variations for Autosomal Recessive Disease

Expression for Autosomal Recessive Disease

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

Pathways for Autosomal Recessive Disease

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

# Super pathways Score Top Affiliating Genes
1 12.03 RAD21 PNKP ERCC3 ERCC2
2 11.59 IDUA CTSK ARSA
3
Show member pathways
11.52 GTF2H5 ERCC6 ERCC3 ERCC2
4
Show member pathways
10.97 GTF2H5 ERCC6 ERCC3 ERCC2
5 10.59 ERCC6 ERCC3 ERCC2

GO Terms for Autosomal Recessive Disease

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 9.43 IDUA CTSK ARSA
2 transcription factor TFIID complex GO:0005669 9.33 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 9.95 RAD21 PNKP GTF2H5 ERCC6 ERCC3 ERCC2
2 transcription by RNA polymerase II GO:0006366 9.92 GTF2H5 ERCC6 ERCC3 ERCC2
3 response to oxidative stress GO:0006979 9.84 PNKP ERCC6 ERCC3 ERCC2
4 DNA duplex unwinding GO:0032508 9.78 ERCC6 ERCC3 ERCC2
5 transcription elongation from RNA polymerase II promoter GO:0006368 9.77 GTF2H5 ERCC3 ERCC2
6 nucleotide-excision repair GO:0006289 9.74 GTF2H5 ERCC3 ERCC2
7 nucleotide-excision repair, DNA incision GO:0033683 9.73 GTF2H5 ERCC3 ERCC2
8 DNA repair GO:0006281 9.73 RAD21 PNKP GTF2H5 ERCC6 ERCC3 ERCC2
9 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.72 GTF2H5 ERCC3 ERCC2
10 transcription initiation from RNA polymerase I promoter GO:0006361 9.7 GTF2H5 ERCC3 ERCC2
11 7-methylguanosine mRNA capping GO:0006370 9.69 GTF2H5 ERCC3 ERCC2
12 termination of RNA polymerase I transcription GO:0006363 9.67 GTF2H5 ERCC3 ERCC2
13 sulfate transport GO:0008272 9.63 SLC26A4 SLC26A2
14 sulfate transmembrane transport GO:1902358 9.63 SLC26A4 SLC26A2
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.63 GTF2H5 ERCC3 ERCC2
16 UV protection GO:0009650 9.62 ERCC3 ERCC2
17 response to pH GO:0009268 9.61 TTPA ARSA
18 global genome nucleotide-excision repair GO:0070911 9.61 GTF2H5 ERCC3 ERCC2
19 oxalate transport GO:0019532 9.6 SLC26A4 SLC26A2
20 vitamin transport GO:0051180 9.58 TTPA SLC19A2
21 hair cell differentiation GO:0035315 9.58 ERCC3 ERCC2
22 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.58 GTF2H5 ERCC3 ERCC2
23 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.54 GTF2H5 ERCC3 ERCC2
24 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.5 GTF2H5 ERCC3 ERCC2
25 transcription-coupled nucleotide-excision repair GO:0006283 9.46 GTF2H5 ERCC6 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:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.63 ERCC6 ERCC3 ERCC2
2 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.48 ERCC3 ERCC2
3 chloride transmembrane transporter activity GO:0015108 9.43 SLC26A4 SLC26A2
4 sulfate transmembrane transporter activity GO:0015116 9.4 SLC26A4 SLC26A2
5 bicarbonate transmembrane transporter activity GO:0015106 9.37 SLC26A4 SLC26A2
6 DNA helicase activity GO:0003678 9.33 ERCC6 ERCC3 ERCC2
7 secondary active sulfate transmembrane transporter activity GO:0008271 9.32 SLC26A4 SLC26A2
8 oxalate transmembrane transporter activity GO:0019531 9.26 SLC26A4 SLC26A2
9 damaged DNA binding GO:0003684 9.13 PNKP ERCC3 ERCC2
10 DNA-dependent ATPase activity GO:0008094 8.8 ERCC6 ERCC3 ERCC2

Sources for Autosomal Recessive Disease

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
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