MCID: ATS010
MIFTS: 32

Autosomal Recessive Disease malady

Genetic diseases (common) category
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Summaries for Autosomal Recessive Disease

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8Disease Ontology, 33MalaCards
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Disease Ontology:8 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: Autosomal Recessive Disease is related to schimke immunoosseous dysplasia and thrombocytopenia. 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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8Disease Ontology
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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 57)
idRelated DiseaseScoreTop Affiliating Genes
1schimke immunoosseous dysplasia29.8SLC26A4, AGXT
2thrombocytopenia10.1IDUA
3epidermodysplasia verruciformis10.0
4juvenile myoclonic epilepsy10.0
5short stature10.0CTSK, CFI
6mental retardation10.0IDUA, CFI
7metabolic syndrome x10.0IDUA, AGXT
8chronic kidney failure10.0CFI, AGXT
9congenital chloride diarrhea9.9
10bardet-biedl syndrome9.9
11cockayne syndrome9.9
12primary hyperoxaluria9.9
13familial mediterranean fever9.9
14cd45 deficiency9.9
15temtamy preaxial brachydactyly syndrome9.9
16urofacial syndrome9.9
17congenital adrenal hyperplasia9.9
18kahrizi syndrome9.9
19cleft palate9.9
20infertility9.9
21sotos syndrome9.9
22tay-sachs disease9.9
23nephronophthisis9.9
24alstrom syndrome9.9
25xeroderma pigmentosum9.9
26aicardi-goutieres syndrome9.9
27abcd syndrome9.9
28aspartylglucosaminuria9.9
29antley-bixler syndrome9.9
30jmp syndrome9.9
31achalasia microcephaly syndrome9.9
32meckel syndrome9.9
33joubert syndrome9.9
34hydrolethalus syndrome9.9
35fibular hypoplasia and complex brachydactyly9.9
36hypertelorism, microtia, facial clefting syndrome9.9
37johanson-blizzard syndrome9.9
38congenital muscular dystrophy9.9
39diarrhea9.9
40epidermolysis bullosa9.9
41male infertility9.9
42spinal muscular atrophy9.9
43adenine phosphoribosyltransferase deficiency9.9
44primary hyperoxaluria type 19.9
45aplasia cutis congenita9.9
46congenital generalized lipodystrophy type 19.9
47dyschromatosis universalis hereditaria9.9
48hermansky pudlak syndrome 29.9
49juvenile hyaline fibromatosis9.9
50prolidase deficiency9.9

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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Disease:

33
Brain, Skin, Testes

Animal Models for Autosomal Recessive Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Disease:

37
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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52PubMed
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Articles related to Autosomal Recessive Disease:

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

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50PathCards, 30KEGG
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Pathways related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Autosomal Recessive Disease

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45Novoseek, 24HMDB
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Compounds related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chloride459.4SLC26A4, CTSK
2oxalate459.4AGXT, SLC26A4
3thyroxine45 2410.2SLC26A4, CFI
4sulfate45 2410.1SLC26A4, CTSK, IDUA
5mannose458.9IDUA, MGAT2
6nacl458.9CFI, IDUA, SLC26A4

GO Terms for genes affiliated with Autosomal Recessive Disease

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16Gene Ontology
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Cellular components related to Autosomal Recessive Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:0160208.8CFI, IGLL1, MGAT2

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet