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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 aceruloplasminemia and nonphotosensitive trichothiodystrophy. 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 Mycophenolic acid and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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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 824)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 32.2 BCS1L FXN TTPA
2 nonphotosensitive trichothiodystrophy 31.7 ERCC3 MPLKIP
3 citrullinemia, type ii, adult-onset 31.7 ASS1 SLC25A13
4 xeroderma pigmentosum, complementation group d 31.7 ERCC2 ERCC3 GTF2H5
5 citrullinemia, classic 31.6 ASS1 SLC25A13
6 achondrogenesis, type ib 31.6 SLC26A2 SLC26A4
7 uv-sensitive syndrome 31.5 ERCC2 ERCC3 ERCC6
8 cockayne syndrome 31.5 ERCC2 ERCC3 ERCC6
9 xeroderma pigmentosum, variant type 31.4 ERCC2 ERCC3 ERCC6
10 trichothiodystrophy 1, photosensitive 31.4 ERCC2 ERCC3 ERCC6 GTF2H5 MPLKIP
11 frem1 autosomal recessive disorders 12.0
12 insensitivity to pain, congenital, with anhidrosis 11.1
13 crisponi/cold-induced sweating syndrome 1 11.1
14 wilson disease 11.1
15 desmosterolosis 11.1
16 congenital cataracts, hearing loss, and neurodegeneration 11.1
17 alacrima, achalasia, and mental retardation syndrome 11.1
18 cystic fibrosis 11.0
19 epidermodysplasia verruciformis 1 11.0
20 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.0
21 cohen syndrome 11.0
22 plasminogen deficiency, type i 11.0
23 dyggve-melchior-clausen disease 11.0
24 mucolipidosis ii alpha/beta 11.0
25 neurodegeneration with brain iron accumulation 2a 11.0
26 acrocapitofemoral dysplasia 11.0
27 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.0
28 hereditary sensory neuropathy 11.0
29 sclerosteosis 11.0
30 otospondylomegaepiphyseal dysplasia 11.0
31 congenital disorder of glycosylation, type ia 10.9
32 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.9
33 keutel syndrome 10.9
34 chylomicron retention disease 10.9
35 craniolenticulosutural dysplasia 10.9
36 urofacial syndrome 1 10.8
37 thiamine-responsive megaloblastic anemia syndrome 10.8
38 bjornstad syndrome 10.8
39 galloway-mowat syndrome 10.8
40 immunodeficiency-centromeric instability-facial anomalies syndrome 10.8
41 leukocyte adhesion deficiency, type i 10.8
42 abetalipoproteinemia 10.8
43 carpenter syndrome 1 10.8
44 glucocorticoid deficiency 1 10.8
45 albinism, oculocutaneous, type ii 10.8
46 hermansky-pudlak syndrome 1 10.8
47 corticosterone methyloxidase type i deficiency 10.8
48 corneal dystrophy, gelatinous drop-like 10.8
49 argininosuccinic aciduria 10.8
50 arterial calcification, generalized, of infancy, 1 10.8

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:

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.17 SLC19A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.17 BCS1L FXN
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.17 SLC19A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.17 SLC19A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.17 BCS1L ERCC2 FXN GTF2H5 SLC19A2 TTPA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.17 FXN GTF2H5 TTPA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.17 ERCC2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.17 FXN GTF2H5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.17 FXN
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.17 BCS1L
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.17 BCS1L
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.17 SLC19A2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.17 GTF2H5 TTPA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.17 ERCC2 GTF2H5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.17 BCS1L
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.17 BCS1L ERCC2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.17 TTPA
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.17 SLC19A2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.17 FXN GTF2H5 TTPA
20 no effect GR00402-S-1 9.92 AGXT ARSA ASS1 BCS1L BSCL2 ERCC2

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

47 (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
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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 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
3
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
4
Dopamine Approved Phase 3,Phase 2 62-31-7, 51-61-6 681
5
Carbidopa Approved Phase 3 28860-95-9 34359
6
Hydroxyurea Approved Phase 2, Phase 3,Not Applicable 127-07-1 3657
7 Dermatologic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
8 Antitubercular Agents Phase 2, Phase 3,Phase 1
9 Anti-Infective Agents Phase 2, Phase 3,Phase 1
10 Cyclosporins Phase 2, Phase 3,Phase 1
11 Antifungal Agents Phase 2, Phase 3,Phase 1
12 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
13 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
14 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
15 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
16 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
17 Antirheumatic Agents Phase 2, Phase 3,Phase 1
18 Psychotropic Drugs Phase 3,Phase 2
19 Central Nervous System Depressants Phase 3
20 GABA Agents Phase 3
21 Tranquilizing Agents Phase 3
22 Neurotransmitter Agents Phase 3,Phase 2
23 Antimanic Agents Phase 3
24 Anticonvulsants Phase 3
25 Dopamine Agents Phase 3,Phase 2
26 Antiparkinson Agents Phase 3,Phase 2
27 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
28 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
29
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
30
Molybdenum Approved Phase 1, Phase 2 7439-98-7 185498
31
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
32
Kinetin Approved Phase 2 525-79-1 3830
33
Ustekinumab Approved, Investigational Phase 2 815610-63-0
34
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
35
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
37
Quercetin Experimental, Investigational Phase 2,Phase 1 117-39-5 5280343
38 Dopamine agonists Phase 2
39 Vitamin B 6 Phase 2
40 Vitamins Phase 2
41 Trace Elements Phase 2,Phase 1
42 Vitamin B Complex Phase 2
43 Vitamin B9 Phase 2
44 Nutrients Phase 2,Phase 1
45 Folate Phase 2
46 Pharmaceutical Solutions Phase 2,Phase 1
47 Micronutrients Phase 2,Phase 1
48 Antioxidants Phase 2,Phase 1
49 Protective Agents Phase 2,Phase 1
50 Peripheral Nervous System Agents Phase 2,Early Phase 1

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X] Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
2 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
3 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
4 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
5 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
6 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
7 28 Day Repeat Dose in Cystic Fibrosis Patients Completed NCT00903201 Phase 2 SB656933;SB656933;Placebo
8 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
9 Nasal Potential Studies Utilizing Cystic Fibrosis Transmembrane Regulator (CFTR) Modulators Completed NCT01348204 Phase 2
10 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
11 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2 Dronabinol
12 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
13 Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Recruiting NCT03366142 Phase 2
14 Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
15 Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers Completed NCT01894165 Phase 1 ALXN1101;Placebo
16 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
17 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
18 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
19 The Short-term Effect of ELTGOL on Pulmonary Ventilation Valued Through Electrical Impedance Tomography in Cystic Fibrosis Patients Unknown status NCT02600039 Not Applicable
20 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Completed NCT02840669 Not Applicable
21 A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Completed NCT03013777 Not Applicable
22 Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population Completed NCT02917070
23 Natural History of Spinal Muscular Atrophy Type 1 in Taiwan Completed NCT02466529
24 Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia Completed NCT03370029
25 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
26 18FDG- PET/CT Contribution to the Assessment of Lesion Severity in Cystic Fibrosis (CF) Completed NCT00363402 Not Applicable
27 Monocytic Expression of Heme Oxidase-1 (HO-1) in Sickle Cell Patients and Correlation With the Humoral Immune Response to Vaccine and With Allo-immunization. Completed NCT03111589 Not Applicable
28 Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Recruiting NCT03758521
29 I-Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT03951298
30 Effect of Low-Fat Compared to Low-Carbohydrate Diet in Subjects With Multifactorial Chylomicronemia Recruiting NCT03898609 Not Applicable
31 Prenatal Computer-Aided Genetics Education Module Recruiting NCT03449225 Not Applicable
32 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
33 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Active, not recruiting NCT02316314
34 Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients Active, not recruiting NCT03293810
35 Cross Transmissions of Pseudomonas Aeruginosa Between Children From a Same Cystic Fibrosis Center. Enrolling by invitation NCT03910920
36 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056
37 CYSTEA-BONE Clinical Study Not yet recruiting NCT03919981
38 Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers Not yet recruiting NCT03902353 Not Applicable
39 New Variants Involved in Taybi-Linder Syndrome Not yet recruiting NCT03222947
40 An Investigation of the Association Between Helicobacter Pylori Infection and Abdominal Pain in Cystic Fibrosis Patients Withdrawn NCT00765401

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:

42
Brain, Bone, Skin, Bone Marrow, Heart, Kidney, Testes
Sources

Publications for Autosomal Recessive Disease

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Articles related to Autosomal Recessive Disease:

(show top 50) (show all 118)
# Title Authors Year
1
Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis. ( 31003756 )
2019
2
Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease. ( 28892992 )
2017
3
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. ( 28631888 )
2017
4
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. ( 27124789 )
2016
5
Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR. ( 27924908 )
2016
6
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2015
7
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. ( 25799636 )
2015
8
Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder. ( 25741941 )
2015
9
CONSANGUINITY AND HOMOZYGOSITY AMONG TUNISIAN PATIENTS WITH AN AUTOSOMAL RECESSIVE DISORDER. ( 25630711 )
2015
10
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. ( 24825083 )
2014
11
A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. ( 24854525 )
2014
12
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder. ( 24621779 )
2014
13
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. ( 22858719 )
2013
14
Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. ( 23438674 )
2013
15
Identification of autosomal recessive disease loci using out-bred nuclear families. ( 22052625 )
2012
16
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
17
Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder? ( 21968521 )
2012
18
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. ( 22243965 )
2012
19
Spongy degeneration with cerebellar ataxia in Malinois puppies: a hereditary autosomal recessive disorder? ( 21488963 )
2011
20
Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family. ( 21628937 )
2011
21
Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. ( 20637082 )
2010
22
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. ( 21475666 )
2010
23
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. ( 19952732 )
2010
24
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? ( 19479854 )
2009
25
The gene of Bloom's syndrome: an autosomal recessive disorder with male dominance. ( 19500012 )
2009
26
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. ( 18179883 )
2008
27
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. ( 17272902 )
2007
28
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. ( 17632789 )
2007
29
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. ( 16642444 )
2006
30
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
31
Familial infantile myelofibrosis as an autosomal recessive disorder: preponderance among children from Saudi Arabia. ( 16728367 )
2006
32
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. ( 16790508 )
2006
33
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. ( 16493448 )
2006
34
The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy. ( 16047082 )
2005
35
The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy. ( 16178093 )
2005
36
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene. ( 15756348 )
2005
37
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. ( 16145690 )
2005
38
Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder. ( 15811017 )
2005
39
Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. ( 15701991 )
2005
40
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. ( 16326827 )
2005
41
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder. ( 15200504 )
2004
42
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. ( 12632327 )
2003
43
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. ( 11519011 )
2001
44
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
45
Rare etiology of autosomal recessive disease in a child with noncarrier parents. ( 10915611 )
2000
46
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. ( 10852545 )
2000
47
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. ( 10677296 )
2000
48
Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder. ( 10649801 )
2000
49
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. ( 11113072 )
2000
50
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. ( 9674902 )
1998
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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 38
Show member pathways
 11.52 ERCC2 ERCC3 ERCC6 GTF2H5
2
Mitochondrial protein import 67
11.23 BCS1L FXN SLC25A13
3
RNA Polymerase I Promoter Escape 67
Show member pathways
 10.97 ERCC2 ERCC3 ERCC6 GTF2H5
4
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 62
10.59 ERCC2 ERCC3 ERCC6
5
Alanine and aspartate metabolism 1
Show member pathways
 10.44 AGXT ASS1
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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 lysosome GO:0005764 9.56 ARSA ASS1 IDUA TYR
2 transcription factor TFIIH holo complex GO:0005675 9.16 ERCC2 ERCC3
3 transcription factor TFIID complex GO:0005669 9.13 ERCC2 ERCC3 GTF2H5
4 transcription factor TFIIH core complex GO:0000439 8.8 ERCC2 ERCC3 GTF2H5

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

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 ERCC2 ERCC3 ERCC6
2 protein N-terminus binding GO:0047485 9.61 ERCC2 ERCC3 ERCC6
3 anion:anion antiporter activity GO:0015301 9.48 SLC26A2 SLC26A4
4 amino acid binding GO:0016597 9.46 AGXT ASS1
5 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.4 ERCC2 ERCC3
6 sulfate transmembrane transporter activity GO:0015116 9.37 SLC26A2 SLC26A4
7 bicarbonate transmembrane transporter activity GO:0015106 9.32 SLC26A2 SLC26A4
8 chloride transmembrane transporter activity GO:0015108 9.26 SLC26A2 SLC26A4
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.16 SLC26A2 SLC26A4
10 oxalate transmembrane transporter activity GO:0019531 8.96 SLC26A2 SLC26A4
11 DNA-dependent ATPase activity GO:0008094 8.8 ERCC2 ERCC3 ERCC6
Sources

Sources for Autosomal Recessive Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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