Autosomal Recessive Disease malady

MalaCards: Autosomal Recessive Disease is related to cockayne syndrome and molybdenum cofactor deficiency, type b. An important gene associated with Autosomal Recessive Disease is IGLL1 (immunoglobulin lambda-like polypeptide 1), and among its related pathways are Glycine, serine and threonine metabolism and Peroxisome. The compounds oxalate and glycine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are renal/urinary system and pigmentation.

autosomal recessive disease 6

Diseases related to autosomal recessive disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 65)

id	Related Disease	Score	Top Affiliating Genes
1	cockayne syndrome	26.4	POLH, DDB2, ERCC4, ERCC3, ERCC2, GTF2H5
2	molybdenum cofactor deficiency, type b	13.6	MOCS2, MOCS1
3	mucolipidosis iiic	13.4	GNPTG, GNPTAB
4	glycine encephalopathy	13.4	GCSH, AMT, GLDC
5	reye syndrome	13.2	ACADM, HMGCL, ASS1
6	methylmalonic acidemia	13.2	ACADM, HMGCL, MLYCD, MVK
7	organic acidemia	13.1	ACADM, HMGCL
8	ataxia with isolated vitamin e deficiency	13.1	TTPA, FXN
9	molybdenum cofactor deficiency	13.1	GPHN, MOCS2, MOCS1
10	chloride diarrhea	13.1	SLC26A2, SLC26A4
11	adult-onset citrullinemia type ii	13.1	SLC25A13, ASS1
12	mayer-rokitansky-kuster-hauser syndrome	13.1	SLC26A2, SLC26A4, ACADM, CFI, MVK
13	xeroderma pigmentosum, group c	13.0	DDB2, ERCC3, XPC
14	phenylketonuria	13.0	ACADM, HMGCL, MTRR, MVK
15	xeroderma pigmentosum, group b	13.0	ERCC3, ERCC2
16	xeroderma pigmentosum	13.0	POLH, XPC, XPA
17	fatty acid oxidation disorders	13.0	SLC25A13, ACADVL, ACADM
18	congenital chloride diarrhea	12.9	SLC26A2, SLC26A4
19	xeroderma pigmentosum, group d	12.9	ERCC2, XPC
20	xeroderma pigmentosum, group a	12.8	ERCC4, XPC, XPA
21	photosensitive trichothiodystrophy	12.8	ERCC3, ERCC2, GTF2H5, XPA
22	hypothyroidism	12.8	SLC26A4, AIRE, FSHR
23	short stature	12.7	SLC26A2, HESX1, PLOD2, CTSK, GNPTG, GNPTAB
24	dwarfism	12.6	ERCC2, ERCC3, ERCC4, SLC26A2
25	mutagen sensitivity	12.6	ERCC2, XPC, XPA
26	hypotonia	12.5	ERCC2, MGAT2, MLYCD, CEP290, MVK
27	skin benign neoplasm	12.5	ERCC3, ERCC2, XPC, XPA
28	neonatal hemochromatosis	12.4	GGT1, SLC25A13
29	obstructive jaundice	12.4	GGT1, SLC25A13
30	orofacial cleft	12.4	SLC25A13, ERCC2, ASS1, MTRR
31	diarrhea	12.4	GGT1, SLC26A2, SLC39A4, SLC26A4, IDUA, CFI
32	hyperammonemia with hypoornithinemia	12.2	GGT1, SLC25A13, HMGCL, ASS1
33	hypoglycemia	12.1	SLC25A13, HK1, ACADVL, ACADM, HMGCL, ALDOB
34	photosensitive trichthiodystrophy	12.0	DDB2, ERCC4, ERCC3, ERCC2, GTF2H5, XPC
35	fatty liver disease	11.9	ASS1, ACADM, ACADVL, SLC25A13, GGT1
36	lung cancer susceptibility	11.7	ERCC4, ERCC3, ERCC2, AMT, XPC, XPA
37	skin cancer	11.7	HAL, POLH, DDB2, ERCC4, ERCC3, ERCC2
38	male infertility	11.5	SLC19A2, ERCC4, ERCC2, FSHR, XPC, XPA
39	bilirubin metabolic disorder	11.5	GGT1, SLC25A13, AGXT, ACADVL, ACADM, HMGCL
40	cholesterol	11.1	ERCC2, ACADM, ACADVL, TTPA, GGT1, AIRE
41	hypertension	10.7	GGT1, SLC19A2, SLC26A4, HESX1, ACADM, AIRE
42	infertility	10.5	GGT1, SLC19A2, ERCC4, ERCC2, FSHR, CFI
43	anemia	10.4	GGT1, SLC19A2, HK1, ERCC4, ERCC2, AIRE
44	tuberculosis	10.2	DARS2, ACADM, ACADVL, POLH, SLC26A4, SLC26A2
45	hepatitis	9.0	ACADM, HK1, AGXT, TTPA, POLH, SLC25A13
46	leukemia	8.7	ERCC3, ERCC4, DDB2, PLOD2, AGXT, TTPA
47	carcinoma	7.5	ERCC2, ERCC4, DDB2, CTSK, ACADVL, HK1
48	achromatopsia	5.8
49	sotos syndrome	5.8
50	aicardi-goutieres syndrome	5.8

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to autosomal recessive disease:

²²

MGI Mouse Phenotypes related to autosomal recessive disease:

²⁵ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.5	AGXT, SLC26A4, SLC25A13, HAL, HK1, HR
2	pigmentation phenotype	MP:0001186	8.5	SLC26A4, POLH, ERCC2, CEP290, XPA, GGT1
3	liver/biliary system phenotype	MP:0005370	8.0	SLC25A13, HK1, ACADVL, ACADM, ERCC4, AIRE
4	endocrine/exocrine gland phenotype	MP:0005379	7.8	HESX1, SLC26A4, SLC19A2, GGT1, CTSK, AIRE
5	tumorigenesis	MP:0002006	7.8	ERCC3, DDB2, ACADVL, POLH, ERCC2, AIRE
6	vision/eye phenotype	MP:0005391	7.0	AIRE, ERCC2, HESX1, TTPA, SLC39A4, GGT1
7	skeleton phenotype	MP:0005390	6.9	CTSK, SLC26A4, SLC39A4, SLC26A2, GGT1, ERCC3
8	behavior/neurological phenotype	MP:0005386	6.6	AIRE, ERCC2, ERCC3, ACADVL, TTPA, SLC26A4
9	integument phenotype	MP:0010771	6.5	ERCC2, ERCC3, DDB2, HK1, POLH, GGT1
10	reproductive system phenotype	MP:0005389	6.5	ERCC3, HK1, TTPA, SLC26A4, SLC19A2, GGT1
11	nervous system phenotype	MP:0003631	6.5	HR, AIRE, ERCC2, HESX1, TTPA, SLC26A4
12	cellular phenotype	MP:0005384	5.9	GNPTG, HR, AIRE, ERCC2, ERCC3, ERCC4
13	homeostasis/metabolism phenotype	MP:0005376	4.3	BSCL2, ERCC2, CTSK, ACADM, ACADVL, HK1
14	growth/size phenotype	MP:0005378	4.0	DDB2, ERCC4, ERCC3, ERCC2, AIRE, CTSK
15	mortality/aging	MP:0010768	4.0	ACADM, DDB2, ERCC4, ERCC3, ERCC2, ACADVL

Articles related to autosomal recessive disease:

id	Title	Authors	Year	Affiliating Genes
1	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)	Hoppe B.... Leumann E.	1997	AGXT
2	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)	Tan J.... Schachter H.	1996	MGAT2
3	Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. (8596916)	Campuzano V.... Pandolfo M.	1996	FXN

Genes related to autosomal recessive disease according to GeneCards:

(show all 50)

id	Symbol	Description	Score	GeneCards Section Context
1	IGLL1	immunoglobulin lambda-like polypeptide 1	11.1	Summaries
2	CFI	complement factor I	11.1	Summaries
3	CTSK	cathepsin K	11.1	Summaries
4	IDUA	iduronidase, alpha-L-	11.1	Summaries
5	BSCL2	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	11.0	Summaries
6	SLC26A4	solute carrier family 26, member 4	11.0	Summaries
7	MOCS2	molybdenum cofactor synthesis 2	11.0
8	MGAT2	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	11.0	Publications
9	GNPTG	N-acetylglucosamine-1-phosphate transferase, gamma subunit	11.0
10	B3GAT3	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	11.0
11	AMT	aminomethyltransferase	11.0
12	SLC39A4	solute carrier family 39 (zinc transporter), member 4	11.0
13	HR	hairless homolog (mouse)	11.0
14	GCSH	glycine cleavage system protein H (aminomethyl carrier)	11.0
15	HESX1	HESX homeobox 1	11.0
16	MLYCD	malonyl-CoA decarboxylase	11.0
17	GTF2H5	general transcription factor IIH, polypeptide 5	11.0
18	HAL	histidine ammonia-lyase	11.0
19	TTPA	tocopherol (alpha) transfer protein	11.0
20	HMGCL	3-hydroxymethyl-3-methylglutaryl-CoA lyase	11.0
21	MOCS1	molybdenum cofactor synthesis 1	11.0
22	SLC19A2	solute carrier family 19 (thiamine transporter), member 2	11.0
23	ALDOB	aldolase B, fructose-bisphosphate	11.0
24	CHST6	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	11.0
25	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	11.0
26	MVK	mevalonate kinase	11.0
27	POLH	polymerase (DNA directed), eta	11.0
28	AIRE	autoimmune regulator	11.0
29	SLC26A2	solute carrier family 26 (sulfate transporter), member 2	11.0
30	AGXT	alanine-glyoxylate aminotransferase	11.0	Publications
31	ACADVL	acyl-CoA dehydrogenase, very long chain	11.0
32	DDB2	damage-specific DNA binding protein 2, 48kDa	11.0
33	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	11.0
34	PLOD2	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	11.0
35	ASS1	argininosuccinate synthase 1	11.0
36	XPA	xeroderma pigmentosum, complementation group A	11.0
37	GNPTAB	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	11.0
38	CEP290	centrosomal protein 290kDa	11.0
39	GLDC	glycine dehydrogenase (decarboxylating)	11.0
40	FXN	frataxin	11.0	Publications
41	XPC	xeroderma pigmentosum, complementation group C	11.0
42	ERCC4	excision repair cross-complementing rodent repair deficiency, complementation group 4	11.0
43	ERCC3	excision repair cross-complementing rodent repair deficiency, complementation group 3	11.0
44	ACADM	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	11.0
45	HK1	hexokinase 1	11.0
46	ERCC2	excision repair cross-complementing rodent repair deficiency, complementation group 2	11.0
47	SLC25A13	solute carrier family 25 (aspartate/glutamate carrier), member 13	11.0
48	FSHR	follicle stimulating hormone receptor	11.0
49	GGT1	gamma-glutamyltransferase 1	11.0
50	GPHN	gephyrin	11.0

Pathways related to autosomal recessive disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glycine, serine and threonine metabolism20	9.9	AMT, GLDC, AGXT
2	Peroxisome20	9.8	MVK, MLYCD, HMGCL, AGXT
3	Dual incision reaction in GG-NER38	9.6	XPA, XPC, ERCC4, DDB2
4	Metabolism of water-soluble vitamins and cofactors38	9.6	SLC19A2, GPHN, MOCS2, MOCS1
5	Nucleotide Excision Repair Pathway36	9.3	ERCC4, XPC, XPA
6	Transcription_P53 signaling pathway41	9.2	ERCC3, ERCC2, GTF2H5, XPC, XPA
7	Transcription P53 signaling pathway10	9.1	ERCC3, ERCC2, GTF2H5, XPC, XPA
8	DNA Repair Mechanisms36	8.7	POLH, ERCC4, ERCC3, ERCC2, XPC, XPA
9	Nucleotide excision repair20	8.7	DDB2, ERCC4, ERCC3, ERCC2, GTF2H5, XPC
10	Metabolic pathways20	7.0	MVK, GGT1, HAL, AGXT, HK1, ACADVL

Compounds related to autosomal recessive disease according to GeneDecks:

(show all 12)

id	Compound	Score	Top Affiliating Genes
1	oxalate32	10.2	AGXT, SLC26A4, SLC26A2
2	glycine42 9 18 9	13.0	AGXT, GLDC, AMT, GCSH
3	sulfate32 18	11.0	SLC26A2, SLC26A4, CTSK, IDUA, CHST6
4	moco32	10.0	GPHN, MOCS2, MOCS1
5	cpds32	9.9	XPA, ERCC3, DDB2
6	molybdopterin32 18	10.9	MOCS1, MOCS2, GPHN
7	molybdenum32 18	10.7	GPHN, MOCS2, MOCS1
8	acyl-coa32	9.6	MLYCD, ACADM, ACADVL, AGXT
9	L-Aspartic Acid9 18 9	11.5	ASS1, DARS2, SLC25A13
10	n-acetylglucosamine32	9.3	HK1, GNPTG, GNPTAB, CHST6
11	carbon dioxide32 18	10.1	GGT1, PLOD2, GLDC, AMT, MLYCD
12	cisplatin32 34 9 9	10.8	XPA, GGT1, POLH, DDB2, ERCC4, ERCC3

Cellular components related to autosomal recessive disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	molybdopterin synthase complex	GO:019008	10.0	MOCS2, MOCS1
2	peroxisome	GO:005777	9.9	MVK, MLYCD, HMGCL, AGXT
3	mitochondrial matrix	GO:005759	9.2	FXN, AGXT, ACADVL, ACADM, DARS2, HMGCL
4	mitochondrion	GO:005739	7.7	SLC25A13, HK1, ACADVL, ACADM, DARS2, HMGCL

Biological processes related to autosomal recessive disease according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	glycine catabolic process	GO:006546	10.2	GCSH, AMT, GLDC
2	molybdopterin cofactor biosynthetic process	GO:032324	9.9	GPHN, MOCS2, MOCS1
3	Mo-molybdopterin cofactor biosynthetic process	GO:006777	9.9	MOCS1, MOCS2, GPHN
4	pyrimidine dimer repair	GO:006290	9.8	DDB2, POLH
5	water-soluble vitamin metabolic process	GO:006767	9.6	MOCS1, MOCS2, GPHN, SLC19A2
6	nucleotide-excision repair, DNA incision	GO:033683	9.6	ERCC2, ERCC3, ERCC4
7	vitamin metabolic process	GO:006766	9.5	SLC19A2, GPHN, MOCS2, MOCS1
8	response to UV	GO:009411	9.5	DDB2, ERCC4, ERCC3, XPA
9	carbohydrate metabolic process	GO:005975	9.1	HK1, ALDOB, IDUA, B3GAT3, CHST6, SLC25A13
10	nucleotide-excision repair, DNA damage removal	GO:000718	8.9	XPA, DDB2, ERCC4, ERCC3, ERCC2, XPC
11	nucleotide-excision repair	GO:006289	8.8	DDB2, ERCC4, ERCC3, ERCC2, GTF2H5, XPC
12	DNA repair	GO:006281	8.5	POLH, DDB2, ERCC4, ERCC3, ERCC2, XPC
13	small molecule metabolic process	GO:044281	6.3	ACADM, ACADVL, HK1, AGXT, SLC19A2, SLC25A13

Molecular functions related to autosomal recessive disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein N-terminus binding	GO:047485	9.2	ERCC2, ERCC3, ERCC4, HESX1
2	damaged DNA binding	GO:003684	8.6	XPA, POLH, DDB2, ERCC4, ERCC3, XPC