MCID: ATS010
MIFTS: 39

Autosomal Recessive Disease malady

Summaries for Autosomal Recessive Disease

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Autosomal Recessive Disease is related to schimke immunoosseous dysplasia and juvenile myoclonic epilepsy. 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 kidney, liver and skin, and related mouse phenotypes are craniofacial and cellular.

Aliases & Classifications for Autosomal Recessive Disease

About this section
Sources:
8Disease Ontology
See all sources

Aliases & Descriptions:

autosomal recessive disease 8


External Ids:

Disease Ontology8 DOID:0050737

Related Diseases for Autosomal Recessive Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 61)
idRelated DiseaseScoreTop Affiliating Genes
1schimke immunoosseous dysplasia29.8SLC26A4, LIG4, AGXT
2juvenile myoclonic epilepsy10.1
3epidermodysplasia verruciformis10.1
4autosomal genetic disease10.1
5short stature10.0CFI, CTSK, HESX1
6ataxia with vitamin e deficiency10.0FXN, TTPA
7glycine encephalopathy10.0GCSH, AMT
8apraxia10.0TTPA, FXN
9friedreich ataxia10.0FXN, TTPA
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
21tay-sachs disease9.9
22nephronophthisis9.9
23alstrom syndrome9.9
24xeroderma pigmentosum9.9
25antley-bixler syndrome9.9
26aspartylglucosaminuria9.9
27cd45 deficiency9.9
28kahrizi syndrome9.9
29congenital adrenal hyperplasia9.9
30urofacial syndrome9.9
31temtamy preaxial brachydactyly syndrome9.9
32cleft palate9.9
33infertility9.9
34abcd syndrome9.9
35aicardi-goutieres syndrome9.9
36n syndrome9.9
37fibular hypoplasia and complex brachydactyly9.9
38hydrolethalus syndrome9.9
39meckel syndrome9.9
40joubert syndrome9.9
41achalasia microcephaly syndrome9.9
42brain disease9.9
43congenital muscular dystrophy9.9
44diaphragm disease9.9
45diarrhea9.9
46epidermolysis bullosa9.9
47male infertility9.9
48skin disease9.9
49spinal muscular atrophy9.9
50adenine phosphoribosyltransferase 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

About this section

Drugs & Therapeutics for Autosomal Recessive Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section

Anatomical Context for Autosomal Recessive Disease

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Autosomal Recessive Disease:

32
Kidney, Liver, Skin, Testes, Brain, B cells

Animal Models for Autosomal Recessive Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

36
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

About this section
Sources:
50PubMed
See all sources

Articles related to Autosomal Recessive Disease:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. (24162162)
2014
2
New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. (23593929)
2013
3
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. (23781959)
2013
4
TRPV4 dysfunction promotes renal cystogenesis in autosomal recessive polycystic kidney disease. (23411787)
2013
5
Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease. (22882926)
2012
6
Inactivation of Pink1 gene in vivo sensitizes dopamine-producing neurons to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and can be rescued by autosomal recessive Parkinson disease genes, Parkin or DJ-1. (22511790)
2012
7
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. (21467170)
2011
8
Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease. (21720858)
2011
9
Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease. (21084407)
2011
10
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. (19914852)
2010
11
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. (20413436)
2010
12
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. (19021639)
2009
13
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. (19692703)
2009
14
High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease. (18403612)
2008
15
Emerging pathways in genetic Parkinson's disease: autosomal-recessive genes in Parkinson's disease--a common pathway? (19021753)
2008
16
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. (18252063)
2008
17
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. (18487559)
2008
18
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. (17167799)
2007
19
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. (17429049)
2007
20
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. (17347251)
2007
21
Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive. (17717708)
2007
22
A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease. (17001820)
2006
23
Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. (16677351)
2006
24
Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies). (16551448)
2006
25
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). (16133180)
2005
26
Molecular genetics of autosomal recessive polycystic kidney disease. (14741187)
2004
27
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. (15286165)
2004
28
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. (15019704)
2004
29
PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. (14983006)
2004
30
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. (12868504)
2003
31
Ezrin distribution is abnormal in principal cells from a murine model of autosomal recessive polycystic kidney disease. (12840161)
2003
32
PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. (12620974)
2003
33
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. (12079288)
2002
34
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease. (12420720)
2002
35
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
2001
36
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
37
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. (10612508)
1999
38
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (9674902)
1998
39
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. (9503014)
1998
40
Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease). (7572421)
1995
41
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. (8268915)
1993
42
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). (1415254)
1992
43
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). (2393022)
1990
44
Discoid lupus erythematosus-like skin changes in patients with autosomal recessive chronic granulomatous disease. (2256698)
1990
45
Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. (2662909)
1989
46
Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form. (3508078)
1987
47
Evidence for linkage between Wilson disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder by the family study method. (3459695)
1986
48
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (6962066)
1982
49
Autosomal recessive retinitis pigmentosa and Coats disease: a presumed familial incidence. (973820)
1976
50
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. (5116596)
1971

Genetic Variations for Autosomal Recessive Disease

About this section

Expression for genes affiliated with Autosomal Recessive Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG, 53Reactome
See all sources

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

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tetrasaccharide4410.4B3GAT3, IDUA
2sulfate44 2411.4SLC26A4, CHST6, CTSK, IDUA
3glycine28 11 2412.3AGXT, AMT, GCSH
4nacl4410.2IDUA, LIG4, CFI, SLC26A4
5oxalate4410.1SLC26A4, AGXT

GO Terms for genes affiliated with Autosomal Recessive Disease

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Recessive Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet