MCID: ATS010
MIFTS: 39

Autosomal Recessive Disease malady

Summaries for Autosomal Recessive Disease

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33MalaCards
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MalaCards: Autosomal Recessive Disease is related to schimke immunoosseous dysplasia and friedreich ataxia. An important gene associated with Autosomal Recessive Disease is IGLL1 (immunoglobulin lambda-like polypeptide 1), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Lysosome. The compounds tetrasaccharide and sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and kidney, and related mouse phenotypes are craniofacial and cellular.

Aliases & Classifications for Autosomal Recessive Disease

Sources:
8Disease Ontology
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Aliases & Descriptions:

autosomal recessive disease 8


External Ids:

Disease Ontology8 DOID:0050737

Related Diseases for Autosomal Recessive Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases in the autosomal dominant disease family:

autosomal recessive disease

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1schimke immunoosseous dysplasia29.9SLC26A4, LIG4, AGXT
2friedreich ataxia29.9FXN, TTPA
3juvenile myoclonic epilepsy10.1
4epidermodysplasia verruciformis10.1
5autosomal genetic disease10.1
6short stature10.0CFI, CTSK, HESX1
7ataxia with vitamin e deficiency10.0FXN, TTPA
8glycine encephalopathy10.0GCSH, AMT
9apraxia10.0TTPA, FXN
10mental retardation10.0IDUA, CFI
11metabolic syndrome x10.0AGXT, MVK, IDUA
12noonan syndrome10.0IDUA, TTPA, FXN
13spinocerebellar ataxia10.0FXN, TTPA
14congenital chloride diarrhea9.9
15johanson-blizzard syndrome9.9
16familial mediterranean fever9.9
17primary hyperoxaluria9.9
18cockayne syndrome9.9
19bardet-biedl syndrome9.9
20sotos syndrome9.9
21nephronophthisis9.9
22alstrom syndrome9.9
23xeroderma pigmentosum9.9
24antley-bixler syndrome9.9
25aspartylglucosaminuria9.9
26cd45 deficiency9.9
27kahrizi syndrome9.9
28congenital adrenal hyperplasia9.9
29urofacial syndrome9.9
30temtamy preaxial brachydactyly syndrome9.9
31cleft palate9.9
32infertility9.9
33abcd syndrome9.9
34aicardi-goutieres syndrome9.9
35fibular hypoplasia and complex brachydactyly9.9
36hydrolethalus syndrome9.9
37meckel syndrome9.9
38joubert syndrome9.9
39achalasia microcephaly syndrome9.9
40brain disease9.9
41spinal muscular atrophy9.9
42adenine phosphoribosyltransferase deficiency9.9
43aplasia cutis autosomal recessive9.9
44aplasia cutis congenita9.9
45aplasia cutis congenita recessive9.9
46congenital generalized lipodystrophy type 19.9
47dyschromatosis universalis hereditaria9.9
48juvenile hyaline fibromatosis9.9
49hermansky pudlak syndrome 29.9
50prolidase deficiency9.9

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



Diseases related to autosomal recessive disease

Clinical Features for Autosomal Recessive Disease

Drugs & Therapeutics for Autosomal Recessive Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Autosomal Recessive Disease

Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Disease

Search NIH Clinical Center for Autosomal Recessive Disease

Search CenterWatch for Autosomal Recessive Disease

Genetic Tests for Autosomal Recessive Disease

Anatomical Context for Autosomal Recessive Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Disease:

33
Brain, Spinal cord, Kidney, Liver, Skin, T cells, B cells

Animal Models for Autosomal Recessive Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Recessive Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.2SLC39A4, IDUA, HESX1, CTSK, MGAT2, LIG4
2MP:000538410.1IGLL1, FXN, SLC39A4, BSCL2, MGAT2, CTSK
3MP:000537610.1AGXT, BSCL2, MGAT2, CTSK, IDUA, TTPA
4MP:00053679.9CFI, AGXT, BSCL2, MGAT2, SLC26A4, IDUA
5MP:00036319.9IDUA, AMT, SLC39A4, HESX1, MGAT2, LIG4

Publications for Autosomal Recessive Disease

Sources:
51PubMed
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Articles related to Autosomal Recessive Disease:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. (24324698)
2013
2
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). (23418007)
2013
3
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. (23582048)
2013
4
Comparative proteomic analysis suggests that mitochondria are involved in autosomal recessive polycystic kidney disease. (22718539)
2012
5
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. (23096905)
2012
6
Early cyst growth is associated with the increased nuclear expression of cyclin D1/Rb protein in an autosomal-recessive polycystic kidney disease rat model. (20924203)
2011
7
Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. (22212229)
2011
8
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. (20460933)
2010
9
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. (19914852)
2010
10
Clinical aspects of autosomal recessive polycystic kidney disease. (21103689)
2010
11
Molecular basis of autosomal recessive chronic granulomatous disease in iran. (20407811)
2010
12
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. (19801972)
2009
13
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. (19540516)
2009
14
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? (19479854)
2009
15
Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa. (18506364)
2008
16
Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. (18286309)
2008
17
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. (18624224)
2008
18
Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation. (17109387)
2007
19
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). (17187068)
2007
20
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). (16523049)
2006
21
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. (16775368)
2006
22
Libyan Boy with Autosomal Recessive Trait (P22-phox Defect) of Chronic Granulomatous Disease. (21526014)
2006
23
Autosomal-recessive Charcot-Marie-Tooth diseases. (15892292)
2005
24
Parkin expression in muscle from three patients with autosomal recessive Parkinson's disease carrying parkin mutation. (16312141)
2005
25
Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene. (15944907)
2005
26
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). (15698423)
2005
27
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
28
Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease. (15509540)
2004
29
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. (15099588)
2004
30
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. (14722525)
2004
31
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). (15108281)
2004
32
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. (14561495)
2003
33
Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. (14582039)
2003
34
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). (12506140)
2003
35
Multiorgan mRNA misexpression in murine autosomal recessive polycystic kidney disease. (12371956)
2002
36
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. (11112660)
2001
37
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease. (10780780)
2000
38
Rare etiology of autosomal recessive disease in a child with noncarrier parents. (10915611)
2000
39
Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47-phox deficiency]. (11008352)
2000
40
The human neuregulin 2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. (10369162)
1999
41
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. (9802278)
1998
42
The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. (9571284)
1998
43
Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. (9852256)
1998
44
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. (8894708)
1996
45
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
46
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. (7581364)
1995
47
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. (8071965)
1994
48
Autosomal recessive disease. (8333249)
1993
49
A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? (3681904)
1987
50
Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. (6465844)
1984

Genetic Variations for Autosomal Recessive Disease

Expression for genes affiliated with Autosomal Recessive Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Disease

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

Pathways for genes affiliated with Autosomal Recessive Disease

Sources:
30KEGG, 54Reactome
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Pathways related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4GCSH, AGXT
210.3IDUA, GNPTG, CTSK
3
Hide members
10.1MOCS2, AMT, IDUA, MVK, MGAT2, AGXT

Compounds for genes affiliated with Autosomal Recessive Disease

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tetrasaccharide4510.4B3GAT3, IDUA
2sulfate45 2411.4SLC26A4, CHST6, CTSK, IDUA
3glycine29 11 2412.3AGXT, AMT, GCSH
4nacl4510.2IDUA, LIG4, CFI, SLC26A4
5oxalate4510.1SLC26A4, AGXT

GO Terms for genes affiliated with Autosomal Recessive Disease

Sources:
16Gene Ontology
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Biological processes related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:03020310.3IDUA, CHST6, B3GAT3
2glycine catabolic processGO:00654610.3AMT, GCSH
3small molecule metabolic processGO:0442819.8IDUA, MVK, AGXT, CHST6, B3GAT3, FXN

Molecular functions related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transaminase activityGO:00848310.4AGXT, AMT
2aminomethyltransferase activityGO:00404710.1AMT, GCSH

Products for genes affiliated with Autosomal Recessive Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Recessive Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet