MCID: ATS010
MIFTS: 27

Autosomal Recessive Disease malady

Summaries for Autosomal Recessive Disease

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Disease Ontology:9 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 thrombocytopenia and mental retardation. An important gene associated with Autosomal Recessive Disease is IGLL1 (immunoglobulin lambda-like polypeptide 1), and among its related pathways is Lysosome. The compounds chloride and oxalate have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and testes, and related mouse phenotypes are craniofacial and behavior/neurological.

Aliases & Classifications for Autosomal Recessive Disease

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Autosomal Recessive Disease, Aliases & Descriptions:

Name: Autosomal Recessive Disease 9 11


External Ids:

Disease Ontology9 DOID:0050737

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 59)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia10.3IDUA
2mental retardation10.0IDUA, CFI
3urofacial syndrome 110.0
4epidermodysplasia verruciformis10.0
5metabolic syndrome x10.0AGXT, IDUA
6chronic kidney failure9.9AGXT, CFI
7alstrom syndrome9.9
8ellis-van creveld syndrome9.9
9kahrizi syndrome9.9
10aspartylglucosaminuria9.9
11hermansky-pudlak syndrome 29.9
12sotos syndrome 19.9
13xeroderma pigmentosum, variant type9.9
14cystic fibrosis9.9
15lipodystrophy, congenital generalized, type 19.9
16joubert syndrome 19.9
17histiocytosis-lymphadenopathy plus syndrome9.9
18abcd syndrome9.9
19johanson-blizzard syndrome9.9
20tay-sachs disease9.9
21temtamy preaxial brachydactyly syndrome9.9
22pseudoxanthoma elasticum9.9
23adenine phosphoribosyltransferase deficiency9.9
24prolidase deficiency9.9
25immunodeficiency-centromeric instability-facial anomalies syndrome 19.9
26hydrolethalus syndrome9.9
27senior-loken syndrome-19.9
28spinal muscular atrophy-19.9
29spinal muscular atrophy-29.9
303-m syndrome 19.9
31meckel syndrome 19.9
32du pan syndrome9.9
33congenital chloride diarrhea9.9
34male infertility9.9
35spinal muscular atrophy9.9
36bardet-biedl syndrome9.9
37cockayne syndrome9.9
38primary hyperoxaluria9.9
39cd45 deficiency9.9
40congenital adrenal hyperplasia9.9
41infertility9.9
42nephronophthisis9.9
43antley-bixler syndrome9.9
44jmp syndrome9.9
45seckel syndrome9.9
46oculocutaneous albinism9.9
47dyschromatosis universalis hereditaria9.9
48aicardi-goutieres syndrome9.9
49achalasia microcephaly syndrome9.9
50hermansky-pudlak syndrome9.9

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



Diseases related to autosomal recessive disease

Symptoms for Autosomal Recessive Disease

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Drugs & Therapeutics for Autosomal Recessive Disease

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Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Disease

Search NIH Clinical Center for Autosomal Recessive Disease

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:

31
Brain, Skin, Testes

Animal Models for Autosomal Recessive Disease or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Recessive Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5CTSK, IDUA, MGAT2
2MP:00053868.2SLC26A4, IDUA, BSCL2, MGAT2
3MP:00053978.2MGAT2, BSCL2, IGLL1, IDUA, CTSK
4MP:00053908.2SLC26A4, CTSK, IDUA, MGAT2
5MP:00053878.1MGAT2, BSCL2, IGLL1, IDUA, CTSK
6MP:00053898.1MGAT2, BSCL2, IDUA, SLC26A4
7MP:00053677.3AGXT, SLC26A4, IDUA, CFI, BSCL2, MGAT2
8MP:00053766.9MGAT2, BSCL2, CFI, IDUA, CTSK, SLC26A4

Publications for Autosomal Recessive Disease

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Articles related to Autosomal Recessive Disease:

(show all 28)
idTitleAuthorsYear
1
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. (25174843)
2014
2
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. (22858719)
2013
3
A rare case of respiratory disorders associated with two autosomal recessive diseases and male infertility. (23772318)
2013
4
A population-based study of autosomal-recessive disease-causing mutations in a founder population. (22981120)
2012
5
Identification of autosomal recessive disease loci using out-bred nuclear families. (22052625)
2012
6
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
7
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. (21475666)
2010
8
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? (19479854)
2009
9
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. (16684309)
2006
10
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. (16642444)
2006
11
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
12
Rare etiology of autosomal recessive disease in a child with noncarrier parents. (10915611)
2000
13
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. (11149613)
2000
14
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (9674902)
1998
15
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
16
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. (8596916)
1996
17
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
18
Autosomal recessive disease. (8333249)
1993
19
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. (1986109)
1991
20
Is juvenile myoclonic epilepsy an autosomal recessive disease? (2115759)
1990
21
Juvenile myoclonic epilepsy: an autosomal recessive disease. (2505665)
1989
22
An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. (3209054)
1988
23
Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. (6465844)
1984
24
Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. (212144)
1978
25
Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. (704218)
1978
26
Idiopathic haemochromatosis: an autosomal recessive disease. (4838891)
1974
27
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. (5116596)
1971
28
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. (5111762)
1971

Variations for Autosomal Recessive Disease

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Expression for genes affiliated with Autosomal Recessive Disease

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

Pathways for genes affiliated with Autosomal Recessive Disease

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Pathways related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CTSK, IDUA

Compounds for genes affiliated with Autosomal Recessive Disease

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1chloride439.4SLC26A4, CTSK
2oxalate439.4AGXT, SLC26A4
3thyroxine43 2410.2SLC26A4, CFI
4sulfate43 2410.1SLC26A4, CTSK, IDUA
5mannose438.9IDUA, MGAT2
6nacl438.9CFI, IDUA, SLC26A4

GO Terms for genes affiliated with Autosomal Recessive Disease

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Cellular components related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:00160208.8CFI, IGLL1, MGAT2

Products for genes affiliated with Autosomal Recessive Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Autosomal Recessive Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet