MCID: ATS010
MIFTS: 42

Autosomal Recessive Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Recessive Disease

MalaCards integrated aliases for Autosomal Recessive Disease:

Name: Autosomal Recessive Disease 12 15 17
Autosomal Recessive Disorder 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050737

Summaries for Autosomal Recessive Disease

Disease Ontology : 12 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, also known as autosomal recessive disorder, is related to trichothiodystrophy 3, photosensitive and trichothiodystrophy 1, photosensitive. An important gene associated with Autosomal Recessive Disease is CFTR (CF Transmembrane Conductance Regulator), and among its related pathways/superpathways are DNA Damage and Nucleotide excision repair. Affiliated tissues include brain, skin and kidney, and related phenotypes are homeostasis/metabolism and behavior/neurological

Wikipedia : 74 A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be... more...

Related Diseases for Autosomal Recessive Disease

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

(show top 50) (show all 1132)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 3, photosensitive 31.9 GTF2H5 ERCC6 ERCC3 ERCC2
2 trichothiodystrophy 1, photosensitive 31.9 GTF2H5 ERCC6 ERCC3 ERCC2
3 xeroderma pigmentosum, complementation group f 31.9 ERCC6 ERCC3 ERCC2
4 trichothiodystrophy 2, photosensitive 31.9 GTF2H5 ERCC3
5 odontochondrodysplasia 31.8 SLC26A2 IDUA H2AC18 CTSK
6 xeroderma pigmentosum, complementation group d 31.8 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
7 uv-sensitive syndrome 31.8 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
8 xeroderma pigmentosum, complementation group a 31.8 H2AC18 ERCC6 ERCC2
9 xeroderma pigmentosum, variant type 31.7 H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
10 retinitis pigmentosa 30.4 TYR SLC26A4 RAD21 H2AC18 FXN ERCC6
11 autosomal dominant cerebellar ataxia 30.3 PNKP H2AC18 FXN ERCC6
12 peripheral nervous system disease 30.3 H2AC18 FXN ERCC6 AGRN
13 skin carcinoma 30.1 TYR H2AC18 ERCC6 ERCC3 ERCC2
14 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 11.2
15 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 11.2
16 autosomal recessive disease with focal palmoplantar keratoderma as a major feature 11.2
17 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
18 folate malabsorption, hereditary 11.1
19 chylomicron retention disease 11.1
20 wilson disease 11.0
21 dyggve-melchior-clausen disease 11.0
22 aceruloplasminemia 11.0
23 abetalipoproteinemia 11.0
24 corticosterone methyloxidase type i deficiency 11.0
25 tangier disease 11.0
26 argininosuccinic aciduria 11.0
27 chediak-higashi syndrome 11.0
28 jervell and lange-nielsen syndrome 1 11.0
29 dicarboxylic aminoaciduria 11.0
30 glutamate formiminotransferase deficiency 11.0
31 geroderma osteodysplasticum 11.0
32 dubin-johnson syndrome 11.0
33 papillon-lefevre syndrome 11.0
34 haim-munk syndrome 11.0
35 keutel syndrome 11.0
36 lipoid proteinosis of urbach and wiethe 11.0
37 rothmund-thomson syndrome, type 2 11.0
38 three m syndrome 1 11.0
39 glucose/galactose malabsorption 11.0
40 myopathy with extrapyramidal signs 11.0
41 poretti-boltshauser syndrome 11.0
42 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 11.0
43 griscelli syndrome 11.0
44 donnai-barrow syndrome 11.0
45 crisponi/cold-induced sweating syndrome 1 11.0
46 desmosterolosis 11.0
47 congenital cataracts, hearing loss, and neurodegeneration 11.0
48 citrullinemia, classic 10.9
49 hyaline fibromatosis syndrome 10.9
50 malonyl-coa decarboxylase deficiency 10.9

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



Diseases related to Autosomal Recessive Disease

Symptoms & Phenotypes for Autosomal Recessive Disease

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 AGRN AGXT BSCL2 CFI CFTR CTSK
2 behavior/neurological MP:0005386 10.26 AGRN BSCL2 CFTR CTSK ERCC2 ERCC3
3 growth/size/body region MP:0005378 10.25 AGRN BSCL2 CFTR CTSK ERCC2 ERCC3
4 cellular MP:0005384 10.23 BSCL2 CTSK ERCC2 ERCC3 ERCC6 FXN
5 immune system MP:0005387 10.18 BSCL2 CFI CFTR CTSK ERCC2 ERCC6
6 mortality/aging MP:0010768 10.1 AGRN BSCL2 CFTR ERCC2 ERCC3 ERCC6
7 nervous system MP:0003631 9.93 AGRN BSCL2 CTSK ERCC2 ERCC6 FXN
8 limbs/digits/tail MP:0005371 9.87 AGRN BSCL2 CTSK ERCC6 IDUA SLC26A2
9 reproductive system MP:0005389 9.65 BSCL2 CFTR CTSK ERCC2 ERCC3 IDUA
10 skeleton MP:0005390 9.28 BSCL2 CTSK ERCC2 ERCC3 ERCC6 IDUA

Drugs & Therapeutics for Autosomal Recessive Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development of a Computer-Aided Genetics Education Module (CAGEM) on Screening and Testing for Fetal Chromosome Conditions and Carrier Status: A Clinical Trial Recruiting NCT03449225

Search NIH Clinical Center for Autosomal Recessive Disease

Genetic Tests for Autosomal Recessive Disease

Anatomical Context for Autosomal Recessive Disease

MalaCards organs/tissues related to Autosomal Recessive Disease:

40
Brain, Skin, Kidney, Bone Marrow, Thyroid, Eye, Breast

Publications for Autosomal Recessive Disease

Articles related to Autosomal Recessive Disease:

(show top 50) (show all 10036)
# Title Authors PMID Year
1
"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series". 61
33604240 2021
2
CISD2 maintains cellular homeostasis. 61
33422617 2021
3
Incomplete mitophagy in the mevalonate kinase-deficient Saccharomyces cerevisiae and its relation to the MKD-related autoinflammatory disease in humans. 61
33385519 2021
4
A bird eye view on cystic fibrosis: An underestimated multifaceted chronic disorder. 61
33383045 2021
5
Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease. 61
33536261 2021
6
Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy. 61
33537799 2021
7
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. 61
32700293 2021
8
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients. 61
33199158 2021
9
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease. 61
32485301 2021
10
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. 61
33272776 2021
11
Long-term Outcomes of Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1. 61
33264179 2021
12
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease. 61
33596448 2021
13
Correspondence: Microvillus Inclusion Disease with Novel MYO5B Pathogenic Variants. 61
33544913 2021
14
The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers. 61
33222540 2021
15
First insights into the genetics of 21-hydroxylase deficiency in the Roma population. 61
33605469 2021
16
Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung. 61
33557836 2021
17
Asthma in Cystic Fibrosis: Definitions and Implications of This Overlap Syndrome. 61
33560464 2021
18
Hemochromatosis, alcoholism and unhealthy dietary fat: a case report. 61
33596964 2021
19
Hyaline fibromatosis syndrome: A rare case of multifocal intra-articular involvement. 61
33120290 2021
20
Osmotic demyelination syndrome diagnosed radiologically during Wilson's disease investigation. 61
33022802 2021
21
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations. 61
33016209 2021
22
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17. 61
33012273 2021
23
Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich's ataxia fibroblasts. 61
33529321 2021
24
Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD. 61
33092935 2021
25
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. 61
33557675 2021
26
Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family. 61
32705527 2021
27
Alpha-1 antitrypsin deficiency and recombinant protein sources with focus on plant sources: Updates, challenges and perspectives. 61
33279618 2021
28
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood. 61
33569879 2021
29
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation. 61
32948376 2021
30
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene. 61
33073370 2021
31
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease. 61
33538294 2021
32
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis. 61
33533561 2021
33
Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function. 61
33591954 2021
34
Long-Term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia. 61
33565749 2021
35
Non-Alcoholic Fatty Liver in Patients with Chylomicronemia. 61
33572376 2021
36
Diffusion kurtosis imaging detects subclinical white matter abnormalities in Phenylketonuria. 61
33461111 2021
37
Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients' Dental Management. 61
33505751 2021
38
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. 61
33112498 2021
39
Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin. 61
33452875 2021
40
Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II). 61
33507140 2021
41
Induced neural stem cells from human patient-derived fibroblasts attenuate neurodegeneration in Niemann-Pick type C mice. 61
33522159 2021
42
Newborn screening for primary carnitine deficiency in Quanzhou, China. 61
33181153 2021
43
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene. 61
33463379 2021
44
Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects. 61
33068755 2021
45
Novel SLC12A3 mutation in Gitelman syndrome. 61
33462018 2021
46
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures. 61
33546543 2021
47
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy. 61
33563515 2021
48
Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre. 61
33445524 2021
49
Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis. 61
33159951 2021
50
Mandibuloacral dysplasia type A in five tunisian patients. 61
33422685 2021

Variations for Autosomal Recessive Disease

Expression for Autosomal Recessive Disease

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

Pathways for Autosomal Recessive Disease

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

# Super pathways Score Top Affiliating Genes
1 12.03 RAD21 PNKP ERCC3 ERCC2
2
Show member pathways
11.52 GTF2H5 ERCC6 ERCC3 ERCC2
3
Show member pathways
10.97 GTF2H5 ERCC6 ERCC3 ERCC2
4 10.59 ERCC6 ERCC3 ERCC2

GO Terms for Autosomal Recessive Disease

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.43 IDUA CTSK AGRN
2 transcription factor TFIID complex GO:0005669 9.33 GTF2H5 ERCC3 ERCC2
3 transcription factor TFIIH holo complex GO:0005675 9.13 GTF2H5 ERCC3 ERCC2
4 transcription factor TFIIH core complex GO:0000439 8.8 GTF2H5 ERCC3 ERCC2

Biological processes related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.95 RAD21 PNKP GTF2H5 ERCC6 ERCC3 ERCC2
2 transcription by RNA polymerase II GO:0006366 9.89 GTF2H5 ERCC6 ERCC3 ERCC2
3 response to oxidative stress GO:0006979 9.83 PNKP ERCC6 ERCC3 ERCC2
4 chloride transmembrane transport GO:1902476 9.8 SLC26A4 SLC26A2 CFTR
5 DNA duplex unwinding GO:0032508 9.79 ERCC6 ERCC3 ERCC2
6 transcription elongation from RNA polymerase II promoter GO:0006368 9.77 GTF2H5 ERCC3 ERCC2
7 nucleotide-excision repair GO:0006289 9.75 GTF2H5 ERCC3 ERCC2
8 bicarbonate transport GO:0015701 9.74 SLC26A4 SLC26A2 CFTR
9 nucleotide-excision repair, DNA incision GO:0033683 9.73 GTF2H5 ERCC3 ERCC2
10 DNA repair GO:0006281 9.73 RAD21 PNKP GTF2H5 ERCC6 ERCC3 ERCC2
11 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.72 GTF2H5 ERCC3 ERCC2
12 transcription initiation from RNA polymerase I promoter GO:0006361 9.71 GTF2H5 ERCC3 ERCC2
13 7-methylguanosine mRNA capping GO:0006370 9.69 GTF2H5 ERCC3 ERCC2
14 termination of RNA polymerase I transcription GO:0006363 9.67 GTF2H5 ERCC3 ERCC2
15 sulfate transmembrane transport GO:1902358 9.63 SLC26A4 SLC26A2
16 sulfate transport GO:0008272 9.63 SLC26A4 SLC26A2
17 nucleotide-excision repair, preincision complex assembly GO:0006294 9.63 GTF2H5 ERCC3 ERCC2
18 UV protection GO:0009650 9.62 ERCC3 ERCC2
19 oxalate transport GO:0019532 9.61 SLC26A4 SLC26A2
20 global genome nucleotide-excision repair GO:0070911 9.61 GTF2H5 ERCC3 ERCC2
21 hair cell differentiation GO:0035315 9.58 ERCC3 ERCC2
22 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.58 GTF2H5 ERCC3 ERCC2
23 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.54 GTF2H5 ERCC3 ERCC2
24 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.5 GTF2H5 ERCC3 ERCC2
25 transcription-coupled nucleotide-excision repair GO:0006283 9.46 GTF2H5 ERCC6 ERCC3 ERCC2
26 response to UV GO:0009411 9.26 TYR ERCC6 ERCC3 ERCC2
27 transcription elongation from RNA polymerase I promoter GO:0006362 8.92 GTF2H5 ERCC6 ERCC3 ERCC2

Molecular functions related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.61 ERCC6 ERCC3 ERCC2
2 anion:anion antiporter activity GO:0015301 9.46 SLC26A4 SLC26A2
3 DNA helicase activity GO:0003678 9.43 ERCC6 ERCC3 ERCC2
4 sulfate transmembrane transporter activity GO:0015116 9.4 SLC26A4 SLC26A2
5 secondary active sulfate transmembrane transporter activity GO:0008271 9.37 SLC26A4 SLC26A2
6 damaged DNA binding GO:0003684 9.33 PNKP ERCC3 ERCC2
7 oxalate transmembrane transporter activity GO:0019531 9.32 SLC26A4 SLC26A2
8 chloride transmembrane transporter activity GO:0015108 9.13 SLC26A4 SLC26A2 CFTR
9 bicarbonate transmembrane transporter activity GO:0015106 8.8 SLC26A4 SLC26A2 CFTR

Sources for Autosomal Recessive Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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