MCID: ATS010
MIFTS: 40

Autosomal Recessive Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Recessive Disease

MalaCards integrated aliases for Autosomal Recessive Disease:

Name: Autosomal Recessive Disease 12 14

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 is related to citrullinemia, type ii, adult-onset and citrullinemia, classic. An important gene associated with Autosomal Recessive Disease is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Metabolism and Nucleotide excision repair. The drugs Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 160)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, adult-onset 31.5 ASS1 SLC25A13
2 citrullinemia, classic 31.4 ASS1 SLC25A13
3 trichothiodystrophy 1, photosensitive 31.4 ERCC2 ERCC3 GTF2H5 MPLKIP
4 epidermodysplasia verruciformis 10.9
5 urofacial syndrome 1 10.6
6 thiamine-responsive megaloblastic anemia syndrome 10.6
7 galloway-mowat syndrome 10.6
8 immunodeficiency-centromeric instability-facial anomalies syndrome 10.6
9 nonphotosensitive trichothiodystrophy 10.5 ERCC3 MPLKIP
10 dyshormonogenic goiter 10.5 SLC26A2 SLC26A4
11 xeroderma pigmentosum, complementation group b 10.5 ERCC2 ERCC3 GTF2H5
12 xeroderma pigmentosum, complementation group d 10.5 ERCC2 ERCC3 GTF2H5
13 sotos syndrome 1 10.5
14 anemia, sideroblastic, 4 10.5
15 achalasia-microcephaly syndrome 10.5
16 acrocallosal syndrome 10.5
17 acrodermatitis enteropathica, zinc-deficiency type 10.5
18 lipoid congenital adrenal hyperplasia 10.5
19 mitochondrial dna depletion syndrome 4a 10.5
20 alstrom syndrome 10.5
21 microphthalmia with limb anomalies 10.5
22 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.5
23 atrichia with papular lesions 10.5
24 bloom syndrome 10.5
25 chediak-higashi syndrome 10.5
26 agenesis of the corpus callosum with peripheral neuropathy 10.5
27 cystic fibrosis 10.5
28 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 10.5
29 wolfram syndrome 1 10.5
30 donnai-barrow syndrome 10.5
31 diastrophic dysplasia 10.5
32 dihydropyrimidinase deficiency 10.5
33 cleft lip/palate-ectodermal dysplasia syndrome 10.5
34 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.5
35 epidermolysis bullosa simplex with muscular dystrophy 10.5
36 hyaline fibromatosis syndrome 10.5
37 fibular hypoplasia and complex brachydactyly 10.5
38 fructose intolerance, hereditary 10.5
39 glutathionuria 10.5
40 ovarian dysgenesis 1 10.5
41 trichothiodystrophy 4, nonphotosensitive 10.5
42 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 10.5
43 histidinemia 10.5
44 hydrolethalus syndrome 1 10.5
45 hypertelorism, microtia, facial clefting syndrome 10.5
46 hypoparathyroidism-retardation-dysmorphism syndrome 10.5
47 vici syndrome 10.5
48 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.5
49 johanson-blizzard syndrome 10.5
50 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 10.5

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:

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.87 SLC19A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.87 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.87 FXN BCS1L
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.87 SLC19A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.87 GGT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.87 SLC19A2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.87 FXN GGT1 GTF2H5 BCS1L SLC19A2 ERCC2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.87 FXN GTF2H5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.87 ERCC2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.87 FXN GGT1 GTF2H5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.87 FXN
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.87 GGT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.87 BCS1L
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.87 GGT1 BCS1L
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.87 SLC19A2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.87 GTF2H5
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.87 GTF2H5 ERCC2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.87 BCS1L
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.87 BCS1L ERCC2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.87 SLC19A2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.87 GGT1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.87 FXN GTF2H5

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ALDOB ASS1 BCS1L BSCL2 ERCC2 ERCC3
2 growth/size/body region MP:0005378 10.25 SLC26A2 SLC39A4 TYR ALDOB ASS1 BCS1L
3 homeostasis/metabolism MP:0005376 10.24 AGXT ALDOB ASS1 BCS1L BSCL2 ERCC2
4 cellular MP:0005384 10.22 IDUA SLC19A2 SLC26A2 SLC39A4 TYR ASS1
5 mortality/aging MP:0010768 10.16 SLC25A13 SLC26A2 SLC39A4 TYR ALDOB ASS1
6 endocrine/exocrine gland MP:0005379 10.11 BCS1L BSCL2 ERCC2 ERCC3 GGT1 SLC19A2
7 immune system MP:0005387 10.02 ALDOB ASS1 BSCL2 ERCC2 FXN GGT1
8 hearing/vestibular/ear MP:0005377 9.88 ALDOB ASS1 IDUA SLC19A2 SLC26A4 TYR
9 renal/urinary system MP:0005367 9.76 AGXT BCS1L BSCL2 GGT1 IDUA SLC25A13
10 reproductive system MP:0005389 9.61 IDUA SLC19A2 SLC26A4 TYR BCS1L BSCL2
11 skeleton MP:0005390 9.28 ALDOB ERCC2 ERCC3 GGT1 IDUA SLC26A2

Drugs & Therapeutics for Autosomal Recessive Disease

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
2
Carbidopa Approved Phase 3 28860-95-9 38101 34359
3 Antiparkinson Agents Phase 3,Phase 2
4 Dopamine Agents Phase 3,Phase 2
5 Neurotransmitter Agents Phase 3,Phase 2
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
7
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
8
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078 2978
9
Kinetin Approved Phase 2 525-79-1 3830
10 Dopamine agonists Phase 2
11 Analgesics Phase 2
12 Analgesics, Non-Narcotic Phase 2
13 Cannabinoid Receptor Agonists Phase 2
14 Hallucinogens Phase 2
15 Hormone Antagonists Phase 2
16 Hormones Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Psychotropic Drugs Phase 2
20 Antioxidants Phase 1
21 Protective Agents Phase 1
22
Quercetin Experimental, Investigational, Nutraceutical Phase 1 117-39-5 5280343
23
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
24
Menthol Approved 2216-51-5 16666
25 tannic acid Approved, Nutraceutical

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
2 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
3 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2 Dronabinol
4 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
5 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
6 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
7 The Short-term Effect of ELTGOL on Pulmonary Ventilation Valued Through Electrical Impedance Tomography in Cystic Fibrosis Patients Unknown status NCT02600039
8 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314
9 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Active, not recruiting NCT02840669
10 A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Active, not recruiting NCT03013777
11 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

Genetic Tests for Autosomal Recessive Disease

Anatomical Context for Autosomal Recessive Disease

MalaCards organs/tissues related to Autosomal Recessive Disease:

38
Testes, Skin, Brain

Publications for Autosomal Recessive Disease

Articles related to Autosomal Recessive Disease:

(show all 31)
# Title Authors Year
1
Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease. ( 28892992 )
2017
2
Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR. ( 27924908 )
2016
3
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. ( 27124789 )
2016
4
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
5
A rare case of respiratory disorders associated with two autosomal recessive diseases and male infertility. ( 23772318 )
2013
6
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. ( 22858719 )
2013
7
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
8
Identification of autosomal recessive disease loci using out-bred nuclear families. ( 22052625 )
2012
9
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. ( 21475666 )
2010
10
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
11
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? ( 19479854 )
2009
12
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
13
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. ( 16642444 )
2006
14
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
15
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
16
Rare etiology of autosomal recessive disease in a child with noncarrier parents. ( 10915611 )
2000
17
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. ( 9674902 )
1998
18
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. ( 9002528 )
1997
19
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. ( 8596916 )
1996
20
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. ( 8808595 )
1996
21
Autosomal recessive disease. ( 8333249 )
1993
22
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. ( 1986109 )
1991
23
Is juvenile myoclonic epilepsy an autosomal recessive disease? ( 2115759 )
1990
24
Juvenile myoclonic epilepsy: an autosomal recessive disease. ( 2505665 )
1989
25
An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. ( 3209054 )
1988
26
Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. ( 6465844 )
1984
27
Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. ( 704218 )
1978
28
Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. ( 212144 )
1978
29
Idiopathic haemochromatosis: an autosomal recessive disease. ( 4838891 )
1974
30
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. ( 5111762 )
1971
31
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. ( 5116596 )
1971

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
Show member pathways
13.69 AGXT ALDOB ASS1 ERCC2 FXN GGT1
2
Show member pathways
11.5 ERCC2 ERCC3 GTF2H5
3
Show member pathways
11.38 ERCC2 ERCC3 GTF2H5
4 10.59 BCS1L FXN SLC25A13
5
Show member pathways
10.07 AGXT ASS1

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 holo TFIIH complex GO:0005675 9.16 ERCC2 ERCC3
2 transcription factor TFIID complex GO:0005669 9.13 ERCC2 ERCC3 GTF2H5
3 core TFIIH complex GO:0000439 8.8 ERCC2 ERCC3 GTF2H5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transcription elongation from RNA polymerase II promoter GO:0006368 9.77 ERCC2 ERCC3 GTF2H5
2 transcription-coupled nucleotide-excision repair GO:0006283 9.73 ERCC2 ERCC3 GTF2H5
3 response to UV GO:0009411 9.7 ERCC2 ERCC3 TYR
4 nucleotide-excision repair GO:0006289 9.69 ERCC2 ERCC3 GTF2H5
5 nucleotide-excision repair, DNA incision GO:0033683 9.67 ERCC2 ERCC3 GTF2H5
6 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.65 ERCC2 ERCC3 GTF2H5
7 7-methylguanosine mRNA capping GO:0006370 9.63 ERCC2 ERCC3 GTF2H5
8 global genome nucleotide-excision repair GO:0070911 9.61 ERCC2 ERCC3 GTF2H5
9 sulfate transport GO:0008272 9.6 SLC26A2 SLC26A4
10 sulfate transmembrane transport GO:1902358 9.58 SLC26A2 SLC26A4
11 UV protection GO:0009650 9.58 ERCC2 ERCC3
12 transcription initiation from RNA polymerase I promoter GO:0006361 9.58 ERCC2 ERCC3 GTF2H5
13 oxalate transport GO:0019532 9.57 SLC26A2 SLC26A4
14 regulation of mitotic cell cycle phase transition GO:1901990 9.55 ERCC2 ERCC3
15 hair cell differentiation GO:0035315 9.54 ERCC2 ERCC3
16 termination of RNA polymerase I transcription GO:0006363 9.54 ERCC2 ERCC3 GTF2H5
17 transcription elongation from RNA polymerase I promoter GO:0006362 9.5 ERCC2 ERCC3 GTF2H5
18 nucleotide-excision repair, preincision complex assembly GO:0006294 9.43 ERCC2 ERCC3 GTF2H5
19 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.33 ERCC2 ERCC3 GTF2H5
20 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.13 ERCC2 ERCC3 GTF2H5
21 nucleotide-excision repair, preincision complex stabilization GO:0006293 8.8 ERCC2 ERCC3 GTF2H5

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

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.4 SLC26A2 SLC26A4
2 amino acid binding GO:0016597 9.37 AGXT ASS1
3 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.32 ERCC2 ERCC3
4 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A2 SLC26A4
5 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A2 SLC26A4
6 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A2 SLC26A4
7 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A2 SLC26A4

Sources for Autosomal Recessive Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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