MCID: ATS010
MIFTS: 49

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 citrullinemia, classic. An important gene associated with Autosomal Recessive Disease is FXN (Frataxin), and among its related pathways/superpathways are Nucleotide excision repair and Mitochondrial protein import. 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 no effect and behavior/neurological

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 1133)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 32.7 TTPA FXN BCS1L
2 citrullinemia, classic 32.5 SLC25A13 ASS1
3 nonphotosensitive trichothiodystrophy 32.4 MPLKIP ERCC3
4 citrullinemia, type ii, adult-onset 32.4 SLC25A13 ASS1
5 xeroderma pigmentosum, complementation group d 32.4 GTF2H5 ERCC3 ERCC2
6 achondrogenesis, type ib 32.2 SLC26A4 SLC26A2
7 xeroderma pigmentosum, variant type 32.1 ERCC6 ERCC3 ERCC2
8 uv-sensitive syndrome 31.8 ERCC6 ERCC3 ERCC2
9 cockayne syndrome 31.8 ERCC6 ERCC3 ERCC2
10 trichothiodystrophy 1, photosensitive 31.6 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
11 spastic ataxia, charlevoix-saguenay type 30.1 TTPA FXN
12 frem1 autosomal recessive disorders 12.3
13 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 12.1
14 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 12.1
15 autosomal recessive disease with focal palmoplantar keratoderma as a major feature 12.1
16 wilson disease 11.3
17 insensitivity to pain, congenital, with anhidrosis 11.2
18 crisponi/cold-induced sweating syndrome 1 11.2
19 desmosterolosis 11.2
20 congenital cataracts, hearing loss, and neurodegeneration 11.2
21 cystic fibrosis 11.1
22 lipoid congenital adrenal hyperplasia 11.1
23 bardet-biedl syndrome 11.1
24 neuropathy, hereditary sensory and autonomic, type iii 11.1
25 bowen-conradi syndrome 11.1
26 epidermodysplasia verruciformis 1 11.1
27 fructose intolerance, hereditary 11.1
28 osteoporosis-pseudoglioma syndrome 11.1
29 visceral myopathy 11.1
30 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.1
31 plasminogen deficiency, type i 11.1
32 dyggve-melchior-clausen disease 11.1
33 meckel syndrome, type 1 11.1
34 mucolipidosis ii alpha/beta 11.1
35 neurodegeneration with brain iron accumulation 2a 11.1
36 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.1
37 nephronophthisis 3 11.1
38 acrocapitofemoral dysplasia 11.1
39 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.1
40 hereditary sensory neuropathy 11.1
41 sclerosteosis 11.1
42 otospondylomegaepiphyseal dysplasia 11.1
43 chylomicron retention disease 11.1
44 abetalipoproteinemia 11.0
45 argininosuccinic aciduria 11.0
46 congenital disorder of glycosylation, type ia 11.0
47 coach syndrome 11.0
48 jervell and lange-nielsen syndrome 1 11.0
49 dicarboxylic aminoaciduria 11.0
50 folate malabsorption, hereditary 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AGXT ARSA ASS1 BCS1L BSCL2 ERCC2

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 ARSA ASS1 BCS1L BSCL2 ERCC2 ERCC3
2 homeostasis/metabolism MP:0005376 10.36 AGXT ARSA ASS1 BCS1L BSCL2 ERCC2
3 cellular MP:0005384 10.32 ASS1 BCS1L BSCL2 ERCC2 ERCC3 ERCC6
4 growth/size/body region MP:0005378 10.26 ASS1 BCS1L BSCL2 ERCC2 ERCC3 ERCC6
5 mortality/aging MP:0010768 10.21 ASS1 BCS1L BSCL2 ERCC2 ERCC3 ERCC6
6 immune system MP:0005387 10.14 ARSA ASS1 BSCL2 ERCC2 ERCC6 FXN
7 nervous system MP:0003631 10.13 ARSA ASS1 ERCC2 ERCC6 FXN IDUA
8 endocrine/exocrine gland MP:0005379 10.1 BCS1L BSCL2 ERCC2 ERCC3 SLC19A2 SLC26A4
9 hearing/vestibular/ear MP:0005377 10.06 ARSA ASS1 ERCC6 IDUA SLC19A2 SLC25A13
10 reproductive system MP:0005389 9.81 BCS1L BSCL2 ERCC2 ERCC3 IDUA SLC19A2
11 renal/urinary system MP:0005367 9.8 AGXT BCS1L BSCL2 IDUA SLC25A13 SLC26A4
12 skeleton MP:0005390 9.61 BSCL2 ERCC2 ERCC3 ERCC6 IDUA SLC26A2
13 vision/eye MP:0005391 9.17 ASS1 ERCC2 ERCC6 IDUA SLC39A4 TTPA

Drugs & Therapeutics for Autosomal Recessive Disease

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

(show top 50) (show all 212)
# 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
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
10
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12
Cortisone Experimental Phase 4 53-06-5 222786
13 Epinephryl borate Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 Anti-Asthmatic Agents Phase 4
16 Autonomic Agents Phase 4
17 Bronchodilator Agents Phase 4
18 glucocorticoids Phase 4
19 Antiemetics Phase 4
20 Methylprednisolone Acetate Phase 4
21 Prednisolone acetate Phase 4
22 phenylalanine Phase 4
23 Sympathomimetics Phase 4
24 Adrenergic Agonists Phase 4
25 Adrenergic beta-Agonists Phase 4
26 Adrenergic alpha-Agonists Phase 4
27 Hydrocortisone-17-butyrate Phase 4
28 Mydriatics Phase 4
29 Adrenergic Agents Phase 4
30 Vasoconstrictor Agents Phase 4
31 BB 1101 Phase 4
32 Hydrocortisone 17-butyrate 21-propionate Phase 4
33 Hydrocortisone hemisuccinate Phase 4
34
Zinc Approved, Investigational Phase 3 7440-66-6 32051
35
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
36
Colistin Approved Phase 3 1264-72-8, 1066-17-7 5311054
37
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
38
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
39
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
40
Ezetimibe Approved Phase 3 163222-33-1 150311
41
Ipratropium Approved, Experimental Phase 3 60205-81-4, 22254-24-6 657309 43232
42
Carbidopa Approved Phase 3 28860-95-9 34359
43
Tobramycin Approved, Investigational Phase 3 32986-56-4 36294 5496
44 Liarozole Investigational Phase 2, Phase 3 115575-11-6
45 Neurotransmitter Agents Phase 3
46 Anticonvulsants Phase 3
47 Antifungal Agents Phase 2, Phase 3
48 Androgens Phase 2, Phase 3
49 Androgen Antagonists Phase 2, Phase 3
50 Neuroprotective Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 112)
# 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 Targeted Delivery of Nitric Oxide by Hemoglobin to Improve Regional Blood Flow in Sickle Cell Disease Completed NCT00009581 Phase 2 L-NMMA;Acetylcholine
25 Physiologic Effects of Inhaled Nitric Oxide, Nitroglycerin, and Placebo in Study Subjects With Sickle Cell Anemia Completed NCT00001716 Phase 2 Nitric Oxide;Nitroglycerin
26 Nasal Potential Studies Utilizing CFTR Modulators (UAB Center for Clinical and Translational Science) Completed NCT01348204 Phase 2
27 Niacin Therapy to Improve Endothelial Function in Sickle Cell Disease Completed NCT00508989 Phase 2 Niacin-ER;Placebo;L-NMMA;Acetylcholine
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 The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation Recruiting NCT02910531 Phase 2 Placebo
31 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
32 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 2
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 The Nutritional Supplement Phosphatidylserine in Patients With Familial Recruiting NCT02276716 Phase 2 Phosphatidylserine
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 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 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
42 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
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 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
46 Therapeutic Application of Intravascular Nitrite for Sickle Cell Disease Completed NCT00095472 Phase 1 L-NMMA;Sodium Nitrite
47 Atorvastatin Therapy To Improve Endothelial Function in Sickle Cell Disease Completed NCT00072826 Phase 1 Oxypurinol;L-NMMA;Acetylcholine
48 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
49 A Phase I Study of Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1 Intrathecal Delivery of scAAV9/JeT-GAN
50 Acute Effects of Canagliflozin, a Sodium Glucose Co-Transporter 2 (SGLT2) Inhibitor on Bone Metabolism in Healthy Volunteers Recruiting NCT02404870 Phase 1 Placebo;Canagliflozin

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:

41
Liver, Brain, Bone, Testes, Lung, Skin, Kidney

Publications for Autosomal Recessive Disease

Articles related to Autosomal Recessive Disease:

(show top 50) (show all 9300)
# Title Authors PMID Year
1
Blockade of the angiotensin II type 1 receptor increases bone mineral density and left ventricular contractility in a mouse model of juvenile Paget disease. 38
31271743 2019
2
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. 38
30820861 2019
3
Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients. 38
31048950 2019
4
Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome. 38
31406625 2019
5
β-Mannosidosis in German Shepherd Dogs. 38
30983534 2019
6
A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder. 38
31254513 2019
7
Microvillous Inclusion Disease as a Cause of Protracted Diarrhea. 38
31049800 2019
8
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type. 38
31406622 2019
9
The N-Terminal Domain of NPHP1 Folds into a Monomeric Left-Handed Antiparallel Three-Stranded Coiled Coil with Anti-apoptotic Function. 38
31345020 2019
10
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. 38
31228227 2019
11
Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale. 38
31104135 2019
12
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients. 38
31028654 2019
13
The role of endothelial cells in cystic fibrosis. 38
31401006 2019
14
Cystic Fibrosis-Associated Liver Disease in Lung Transplant Recipients. 38
31102574 2019
15
Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing. 38
31391465 2019
16
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 38
31435881 2019
17
Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T. 38
31257506 2019
18
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. 38
31108048 2019
19
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults. 38
31115677 2019
20
Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis. 38
31256066 2019
21
Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. 38
30783821 2019
22
Nonketotic Hyperglycinemia: Two Case Reports and Review. 38
31433733 2019
23
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy. 38
31268248 2019
24
Omega-3 fatty acid supplementation can prevent changes in mitochondrial energy metabolism and oxidative stress caused by chronic administration of L-tyrosine in the brain of rats. 38
30949952 2019
25
The dilemma to diagnose Wilson disease by genetic testing alone. 38
31169307 2019
26
Clinical features and mutational analysis in 114 young children with Wilson disease from South China. 38
31172689 2019
27
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. 38
31412917 2019
28
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. 38
31415279 2019
29
Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1. 38
31256932 2019
30
Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations. 38
31298590 2019
31
Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I. 38
31386236 2019
32
Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy. 38
31216357 2019
33
Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy. 38
31433211 2019
34
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population. 38
31401635 2019
35
Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina. 38
31377960 2019
36
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature. 38
31384939 2019
37
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report. 38
31409296 2019
38
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1. 38
31062211 2019
39
Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review. 38
31392197 2019
40
[Progress of research on Maple syrup disease]. 38
31302925 2019
41
Neonatal onset familial Mediterranean fever. 38
30009667 2019
42
Effect of BTD gene variants on in vitro biotinidase activity. 38
31337602 2019
43
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II. 38
31201046 2019
44
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. 38
30974196 2019
45
Woodhouse-Sakati Syndrome: First report of a Portuguese case. 38
31347785 2019
46
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations. 38
30868578 2019
47
Short-term results of total shoulder arthroplasty for ochronotic arthritis. 38
31384427 2019
48
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. 38
30130276 2019
49
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. 38
31022684 2019
50
Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome. 38
31272455 2019

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

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 lysosome GO:0005764 9.56 TYR IDUA ASS1 ARSA
2 transcription factor TFIIH holo complex GO:0005675 9.16 ERCC3 ERCC2
3 transcription factor TFIID complex GO:0005669 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 29)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.94 GTF2H5 ERCC6 ERCC3 ERCC2
2 response to oxidative stress GO:0006979 9.81 ERCC6 ERCC3 ERCC2
3 response to toxic substance GO:0009636 9.79 TTPA ERCC6 ASS1
4 response to nutrient GO:0007584 9.77 TTPA ASS1 ARSA
5 transcription elongation from RNA polymerase II promoter GO:0006368 9.76 GTF2H5 ERCC3 ERCC2
6 DNA duplex unwinding GO:0032508 9.73 ERCC6 ERCC3 ERCC2
7 nucleotide-excision repair GO:0006289 9.71 GTF2H5 ERCC3 ERCC2
8 nucleotide-excision repair, DNA incision GO:0033683 9.69 GTF2H5 ERCC3 ERCC2
9 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.67 GTF2H5 ERCC3 ERCC2
10 sulfate transport GO:0008272 9.63 SLC26A4 SLC26A2
11 sulfate transmembrane transport GO:1902358 9.63 SLC26A4 SLC26A2
12 7-methylguanosine mRNA capping GO:0006370 9.63 GTF2H5 ERCC3 ERCC2
13 UV protection GO:0009650 9.61 ERCC3 ERCC2
14 response to pH GO:0009268 9.61 TTPA ARSA
15 transcription initiation from RNA polymerase I promoter GO:0006361 9.61 GTF2H5 ERCC3 ERCC2
16 oxalate transport GO:0019532 9.59 SLC26A4 SLC26A2
17 regulation of mitotic cell cycle phase transition GO:1901990 9.58 ERCC3 ERCC2
18 termination of RNA polymerase I transcription GO:0006363 9.58 GTF2H5 ERCC3 ERCC2
19 vitamin transport GO:0051180 9.57 TTPA SLC19A2
20 hair cell differentiation GO:0035315 9.55 ERCC3 ERCC2
21 nucleotide-excision repair, preincision complex assembly GO:0006294 9.54 GTF2H5 ERCC3 ERCC2
22 global genome nucleotide-excision repair GO:0070911 9.5 GTF2H5 ERCC3 ERCC2
23 transcription elongation from RNA polymerase I promoter GO:0006362 9.48 GTF2H5 ERCC6
24 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.33 GTF2H5 ERCC3 ERCC2
25 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.26 ERCC3 ERCC2
26 transcription-coupled nucleotide-excision repair GO:0006283 9.26 GTF2H5 ERCC6 ERCC3 ERCC2
27 regulation of mitotic recombination GO:0000019 9.22 ERCC2
28 response to UV GO:0009411 8.92 TYR ERCC6 ERCC3 ERCC2
29 transmembrane transport GO:0055085 10.02 SLC39A4 SLC26A4 SLC26A2 SLC25A13 SLC19A2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.67 ERCC6 ERCC3 ERCC2
2 protein N-terminus binding GO:0047485 9.61 ERCC6 ERCC3 ERCC2
3 anion:anion antiporter activity GO:0015301 9.48 SLC26A4 SLC26A2
4 amino acid binding GO:0016597 9.46 ASS1 AGXT
5 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.4 ERCC3 ERCC2
6 sulfate transmembrane transporter activity GO:0015116 9.37 SLC26A4 SLC26A2
7 chloride transmembrane transporter activity GO:0015108 9.32 SLC26A4 SLC26A2
8 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A4 SLC26A2
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.16 SLC26A4 SLC26A2
10 oxalate transmembrane transporter activity GO:0019531 8.96 SLC26A4 SLC26A2
11 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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