MCID: ATS009
MIFTS: 26

Autosomal Genetic Disease

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Autosomal Genetic Disease

MalaCards integrated aliases for Autosomal Genetic Disease:

Name: Autosomal Genetic Disease 12 15
Autosomal Hereditary Disorder 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050739
UMLS 70 C0265384

Summaries for Autosomal Genetic Disease

Disease Ontology : 12 A monogenic disease that has material basis in a mutation in a single gene on one of the non-sex chromosomes.

MalaCards based summary : Autosomal Genetic Disease, also known as autosomal hereditary disorder, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and autosomal recessive disease. An important gene associated with Autosomal Genetic Disease is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include bone, eye and skin.

Related Diseases for Autosomal Genetic Disease

Diseases in the Rare Genetic Eye Disease family:

Autosomal Genetic Disease

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

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 32.4 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 MIR17
2 autosomal recessive disease 32.3 SERPINA3 RNU4ATAC PRODH ICOSLG H2AC18 ERCC6
3 nervous system disease 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 MIR17
4 eye disease 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 MIR17
5 sensory system disease 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 MIR17
6 disease of mental health 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 MIR17
7 eye degenerative disease 10.8 SERPINA3 RNU4ATAC PRODH MIR17 KDM4C ICOSLG
8 peripheral nervous system disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
9 connective tissue disease 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 MIR17
10 liebenberg syndrome 10.8
11 long qt syndrome 10.8
12 central nervous system disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
13 muscular disease 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 ICOSLG
14 respiratory system disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
15 inherited metabolic disorder 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
16 glucose metabolism disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 ICOSLG
17 acquired metabolic disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 ICOSLG
18 integumentary system disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
19 urinary system disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
20 chromosomal disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
21 x-linked monogenic disease 10.8 SERPINA3 PRODH MIR9-1 ICOSLG H2AC18 ERCC6
22 immune system disease 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
23 specific developmental disorder 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 KDM4C H2AC18
24 endocrine system disease 10.8 SERPINA3 RNU4ATAC MIR9-1 MIR21 MIR17 KDM4C
25 disease by infectious agent 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 ICOSLG
26 reproductive system disease 10.8 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
27 colonic disease 10.8 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
28 ovary epithelial cancer 10.8 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
29 malignant ovarian surface epithelial-stromal neoplasm 10.8 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
30 spinal disease 10.8 SERPINA3 RNU4ATAC PRODH MIR9-1 MIR21 MIR17
31 muscle tissue disease 10.8 SERPINA3 RNU4ATAC MIR9-1 ICOSLG H2AC18 ERCC6
32 leukemia, acute myeloid 10.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
33 x-linked recessive disease 10.8 SERPINA3 PRODH ICOSLG H2AC18 ERCC6 EPRS1
34 female reproductive system disease 10.8 SERPINA3 MIR9-1 MIR21 MIR17 ICOSLG H2AC18
35 congenital nervous system abnormality 10.7 RNU4ATAC PRODH MIR9-1 H2AC18 ERCC6 EPRS1
36 cerebellar disease 10.7 SERPINA3 RNU4ATAC PRODH MIR9-1 KDM4C H2AC18
37 cerebral degeneration 10.7 SERPINA3 PRODH H2AC18 ERCC6 EPRS1 CRYAA
38 uveal disease 10.7 SERPINA3 MIR9-1 ICOSLG H2AC18 CRYAA CFHR2
39 male reproductive system disease 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
40 lymphatic system cancer 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
41 lymphatic system disease 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
42 overnutrition 10.7 SERPINA3 PRODH MIR21 MIR17 ICOSLG H2AC18
43 male reproductive organ cancer 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
44 large intestine cancer 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
45 skin disease 10.7 SERPINA3 PRODH MIR9-1 MIR21 MIR17 ICOSLG
46 thoracic cancer 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
47 intestinal disease 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
48 gastrointestinal system cancer 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C ICOSLG
49 bile duct adenocarcinoma 10.7 SERPINA3 MIR9-1 MIR21 MIR17 KDM4C H2AC18
50 physical disorder 10.7 RNU4ATAC PRODH MIR9-1 H2AC18 ERCC6 EPRS1

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



Diseases related to Autosomal Genetic Disease

Symptoms & Phenotypes for Autosomal Genetic Disease

Drugs & Therapeutics for Autosomal Genetic Disease

Search Clinical Trials , NIH Clinical Center for Autosomal Genetic Disease

Genetic Tests for Autosomal Genetic Disease

Anatomical Context for Autosomal Genetic Disease

MalaCards organs/tissues related to Autosomal Genetic Disease:

40
Bone, Eye, Skin, Thymus, Heart, Ovary, Cervix

Publications for Autosomal Genetic Disease

Articles related to Autosomal Genetic Disease:

(show all 26)
# Title Authors PMID Year
1
Inflammatory Biomarkers for Cardiovascular Risk Stratification in Familial Hypercholesterolemia. 61
32691159 2020
2
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia. 61
33173538 2020
3
Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism. 61
31455819 2019
4
Juvenile hyaline fibromatosis: an unusual clinical presentation. 61
31450278 2019
5
A review on role of ATM gene in hereditary transfer of colorectal cancer. 61
30657113 2019
6
AMPK downregulates ALK2 via increasing the interaction between Smurf1 and Smad6, leading to inhibition of osteogenic differentiation. 61
28847510 2017
7
BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review. 61
28928829 2017
8
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. 61
28230601 2017
9
Dentinogenesis imperfecta type II: A case report with 17 years of follow-up. 61
28680850 2017
10
Wilson's disease patient with iron metabolism discharge barriers: A case report. 61
28123513 2017
11
Computational investigation of molecular mechanism and neuropathological implications in Huntington disease. 61
26369532 2015
12
FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis. 61
26123487 2015
13
Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases. 61
27489849 2014
14
Clinical considerations for prosthodontic rehabilitation of intermediate form of osteopetrosis: A report of two cases. 61
25737849 2012
15
[Bone manifestations of Gaucher's disease in Mexican patients]. 61
21246808 2010
16
Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation. 61
16684832 2006
17
Precocity of the acquisition of language and type II spinal muscular atrophy in 3-4-year-old children: a study of 12 cases. 61
15843072 2005
18
[Pulmonary aspects in alpha-1-antitrypsin deficiency]. 61
15202033 2004
19
Telomere instability in a human tumor cell line expressing NBS1 with mutations at sites phosphorylated by ATM. 61
14707289 2003
20
Estrogen inhibition of cystic fibrosis transmembrane conductance regulator-mediated chloride secretion. 61
10991979 2000
21
Role of cholesterol in embryonic development. 61
10799401 2000
22
Is Fanconi anemia caused by a defect in the processing of DNA damage? 61
9739810 1998
23
Polymerase chain reaction-mediated site-directed mutagenesis detection of Z and S alpha-1-antitrypsin alleles in family members. 61
8951606 1996
24
[Gene heterogeneity in adrenal 21-hydroxylase]. 61
1829200 1991
25
Molecular basis of alpha-1-antitrypsin deficiency. 61
3289385 1988
26
Hereditary congenital external ophthalmoplegia. 61
3587876 1986

Variations for Autosomal Genetic Disease

Expression for Autosomal Genetic Disease

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

Pathways for Autosomal Genetic Disease

GO Terms for Autosomal Genetic Disease

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of metalloendopeptidase activity GO:1904685 8.96 MIR21 MIR17
2 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 8.62 MIR21 MIR17

Sources for Autosomal Genetic 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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