MCID: ATS010
MIFTS: 39

Autosomal Recessive Disease malady

Summaries for Autosomal Recessive Disease

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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

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8Disease Ontology
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Aliases & Descriptions:

autosomal recessive disease 8


External Ids:

Disease Ontology8 DOID:0050737

Related Diseases for Autosomal Recessive Disease

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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 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

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Drugs & Therapeutics for Autosomal Recessive Disease

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5CenterWatch, 41NIH 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

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Anatomical Context for Autosomal Recessive Disease

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32MalaCards
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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

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36MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.2IDUA, HESX1, CTSK, MGAT2, LIG4, SLC39A4
2MP:000538410.1GNPTG, CTSK, MGAT2, BSCL2, LIG4, IGLL1
3MP:000537610.1SLC39A4, IDUA, CTSK, MGAT2, BSCL2, AGXT
4MP:00053679.9IDUA, MGAT2, BSCL2, AGXT, CFI, SLC26A4
5MP:00036319.9AMT, IDUA, HESX1, MGAT2, LIG4, TTPA

Publications for Autosomal Recessive Disease

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50PubMed
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Articles related to Autosomal Recessive Disease:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
HINT1 mutations define a novel disease entity - autosomal recessive axonal neuropathy with neuromyotonia. (23043279)
2013
2
Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation. (23389334)
2013
3
Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study. (22076432)
2012
4
Autosomal recessive polycystic kidney disease epithelial cell model reveals multiple basolateral epidermal growth factor receptor sorting pathways. (20519437)
2010
5
Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. (20400910)
2010
6
Transplantation and autosomal recessive polycystic kidney disease. (20617628)
2010
7
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
8
The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease. (20798958)
2010
9
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. (19940839)
2010
10
Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease. (18826972)
2009
11
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. (19506356)
2009
12
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). (19089418)
2009
13
Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions. (19506355)
2009
14
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (19375058)
2009
15
Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to Anti-CD20 monoclonal antibody. (18780954)
2008
16
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. (18334942)
2008
17
Molecular basis of autosomal recessive polycystic kidney disease (ARPKD). (18156813)
2008
18
Mechanoregulation of intracellular Ca2+ in human autosomal recessive polycystic kidney disease cyst-lining renal epithelial cells. (18256315)
2008
19
PINK-1 and DJ-1--new genes for autosomal recessive Parkinson's disease. (17017532)
2006
20
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. (16728649)
2006
21
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. (16937026)
2006
22
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). (16199545)
2005
23
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. (15696446)
2005
24
Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report. (15813611)
2005
25
Liver disease in autosomal recessive polycystic kidney disease. (16176423)
2005
26
Impact of liver transplantation on renal function of patients with congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease. (15598323)
2004
27
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. (14607793)
2004
28
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. (12707075)
2003
29
Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. (12579400)
2003
30
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. (12925569)
2003
31
Autosomal recessive polycystic kidney disease with congenital hepatic fibrosis and encephalocele. (11255310)
2001
32
Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. (11166163)
2001
33
Role of CFTR in autosomal recessive polycystic kidney disease. (11274233)
2001
34
Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes. (11133775)
2001
35
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). (11112388)
2000
36
Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. (10706888)
2000
37
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. (10874631)
1999
38
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. (10598813)
1999
39
Mn SOD activity and protein in a patient with chromosome 6-linked autosomal recessive parkinsonism in comparison with Parkinson's disease and control. (9371904)
1997
40
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
41
Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease. (8597639)
1995
42
Epidermal growth factor ameliorates autosomal recessive polycystic kidney disease in mice. (7781894)
1995
43
Factor VIII:C increases after desmopressin in a subgroup of patients with autosomal recessive severe von Willebrand disease. (7833254)
1995
44
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. (8291561)
1993
45
Molecular basis of the autosomal recessive forms of chronic granulomatous disease. (1554499)
1992
46
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. (1986109)
1991
47
Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. (3377007)
1988
48
Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. (3351909)
1988
49
Type IIB von Willebrand's disease with probable autosomal recessive inheritance and presenting as thrombocytopenia in infancy. (3497666)
1987
50
Discoid lupus erythematosus-like skin lesions in a patient with autosomal recessive chronic granulomatous disease. (3780033)
1986

Genetic Variations for Autosomal Recessive Disease

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Expression for genes affiliated with Autosomal Recessive Disease

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

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Pathways for genes affiliated with Autosomal Recessive Disease

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29KEGG, 53Reactome
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Pathways related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4AGXT, GCSH
210.3CTSK, GNPTG, IDUA
3
Hide members
10.1CHST6, MOCS2, AMT, IDUA, MVK, MGAT2

Compounds for genes affiliated with Autosomal Recessive Disease

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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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

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

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:03020310.3B3GAT3, CHST6, IDUA
2glycine catabolic processGO:00654610.3AMT, GCSH
3small molecule metabolic processGO:0442819.8MOCS2, IDUA, MVK, AGXT, CHST6, B3GAT3

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Recessive Disease

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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