Myelomeningocele malady

CDC: Spina bifida is a major birth defect of a person’s spine.  With good quality medical care people with spina bifida can reach their full potential. If you have spina bifida, or know someone who does, it’s important to get the facts so that you can make the best possible health care choices. ²

MalaCards: Myelomeningocele, also known as meningomyelocele, is related to hyperhomocysteinemia and growth hormone deficiency. An important gene associated with Myelomeningocele is PAX3 (paired box 3), and among its related pathways are One carbon pool by folate and Antimetabolite Pathway - Folate Cycle, Pharmacodynamics. The compounds 25-hydroxyvitamin d and 5,10-methenyltetrahydrofolate have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related mouse phenotypes are growth/size and skeleton.

Wikipedia: Spina bifida (Latin: \"split spine\") is a developmental congenital disorder caused by the incomplete...⁴⁴ more...

myelomeningocele 30 32 meningomyelocele 30

Diseases related to myelomeningocele by text searches and GeneDecks gene sharing:

(show top 50)    (show all 289)

id	Related Disease	Score	Top Affiliating Genes
1	hyperhomocysteinemia	27.3	MTRR, MTHFR, MTR, MTHFD1, IGF1, CBS
2	growth hormone deficiency	27.0	BGLAP, LEP, IGFBP3, IGF1, GNRH1, PRL
3	spina bifida	26.9	VANGL1, VANGL2, PAX3, MTRR, MTHFR, MTR
4	spinal cord injury	26.1	BGLAP, LEP, MTHFR, IGF1, TPPP3, PRL
5	neural tube defect	25.9	VANGL1, VANGL2, PAX3, MTRR, MTHFR, MTR
6	homocysteine	24.9	LEP, MTRR, MTHFR, MTR, MTHFD1, IGFBP3
7	mthfr deficiency	13.6	MTHFR, CBS
8	glycine n-methyltransferase deficiency	13.5	MTHFR, CBS
9	neural tube defects, folate-sensitive	13.5	MTRR, MTR
10	homocystinuria-megaloblastic anemia	13.5	MTRR, MTR
11	vitamin b12 deficiency	13.5	MTHFR, MTR
12	methylcobalamin deficiency	13.5	MTRR, MTR
13	cble	13.5	MTRR, MTR
14	disorders of intracellular cobalamin metabolism	13.4	MTRR, MTR
15	arterial occlusive disease	13.4	MTHFR, CBS
16	methylmalonic aciduria and homocystinuria	13.4	MTR, CBS
17	nutritional deficiency disease	13.4	MTHFR, IGFBP3
18	nontoxic goiter	13.4	BGLAP, TRH
19	schizencephaly	13.3	BGLAP, MTHFR
20	lens subluxation	13.3	MTHFR, CBS
21	folic acid deficiency anemia	13.3	MTHFR, MTR, CBS
22	endemic goiter	13.3	IGFBP3, TRH
23	homocysteine plasma level	13.3	MTRR, MTHFR, MTR
24	placental abruption	13.3	MTRR, MTHFR, MTHFD1
25	thromboembolism	13.3	MTHFR, MTR, CBS
26	venous thrombosis	13.3	MTHFR, MTR, CBS
27	thiamine-responsive megaloblastic anemia syndrome	13.2	MTRR, MTHFR, MTR
28	robinow syndrome	13.2	IGF1, GNRH1
29	insulin-like growth factor 1 resistance to	13.2	IGFBP3, IGF1
30	generalized resistance to thyroid hormone	13.2	TRH, PRL
31	gonadal disease	13.2	IGF1, GNRH1
32	prolactin producing pituitary tumor	13.2	TRH, PRL
33	diffuse idiopathic skeletal hyperostosis	13.1	IGFBP3, IGF1
34	thrombophilia	13.1	MTRR, MTHFR, MTHFD1, CBS
35	sexual disorder	13.1	GNRH1, PRL
36	isolated acth deficiency	13.1	TRH, PRL
37	retinal vein occlusion	13.1	LEP, MTHFR, CBS
38	homocysteinemia	13.1	MTRR, MTHFR, MTR, CBS
39	hypothalamic disease	13.1	GNRH1, PRL
40	aromatase deficiency	13.1	BGLAP, GNRH1
41	melancholia	13.1	TRH, PRL
42	homocystinuria	13.1	MTRR, MTHFR, MTR, CBS
43	testicular disease	13.1	GNRH1, PRL
44	deep vein thrombosis	13.1	MTRR, MTHFR, MTR, CBS
45	pituitary gland disease	13.1	IGF1, PRL
46	birth defects	13.1	MTRR, MTHFR, MTR, MTHFD1
47	obstructive hydrocephalus	13.0	IGF1, PRL
48	neurogenic diabetes insipidus	13.0	GNRH1, PRL
49	hypoparathyroidism	13.0	BGLAP, MTHFR, IGF1
50	empty sella syndrome	13.0	IGF1, PRL

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to myelomeningocele:

²²

MGI Mouse Phenotypes related to myelomeningocele:

²⁵ (show all 14)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size phenotype	MP:0005378	INF	VANGL1, CBS, TRH, MTHFD1, MTHFR, MTRR
2	skeleton phenotype	MP:0005390	INF	, PAX3, MTHFR, , IGF1, GNRH1
3	reproductive system phenotype	MP:0005389	INF	PRL, CBS, GNRH1, , PAX3,
4	nervous system phenotype	MP:0003631	INF	TRH, VANGL1, , PAX3, , MTHFR
5	homeostasis/metabolism phenotype	MP:0005376	5.8	LEP, PAX3, MTRR, MTHFR, MTR, MTHFD1
6	respiratory system phenotype	MP:0005388	INF	IGF1, PAX3, , , VANGL1, CBS
7	vision/eye phenotype	MP:0005391	INF	, LEP, CBS, , MTHFR, PAX3
8	hearing/vestibular/ear phenotype	MP:0005377	INF	IGF1, , VANGL1, , PAX3,
9	mortality/aging	MP:0010768	INF	PAX3, , MTHFD1, MTR, LEP,
10	endocrine/exocrine gland phenotype	MP:0005379	INF	IGF1, GNRH1, CBS, TRH, PRL, IGFBP3
11	integument phenotype	MP:0010771	INF	CBS, PAX3, MTHFR, LEP, , PRL
12	limbs/digits/tail phenotype	MP:0005371	INF	LEP, IGF1, VANGL1, , PAX3, CBS
13	tumorigenesis	MP:0002006	INF	GNRH1, , PRL, PAX3, IGF1, LEP
14	embryogenesis phenotype	MP:0005380	INF	, , LEP, , CBS, PRICKLE1

Articles related to myelomeningocele:

(show all 12)

id	Title	Authors	Year	Affiliating Genes
1	Homocysteine, folate, lipid profile and MTHFR genotype and disability in children with myelomeningocele. (16602021)	Rendeli C.... Caldarelli M.	2006	MTHFR
2	Amniotic fluid brain-specific proteins are biomarkers for spinal cord injury in experimental myelomeningocele. (16190875)	Petzold A.... Copp A.J.	2005	TPPP3
3	No evidence for heterozygote advantage at MTHFR in patients with lumbosacral myelomeningocele or their relatives. (14726815)	Rampersaud E.... Metcalf K.	2004	MTHFR
4	Bone mineral density in children with myelomeningocel e: effect of hydrochlorothiazide. (12883972)	Quan A.... Baum M.	2003	BGLAP
5	Renal size and function in patients with neuropathic bladder due to myelomeningocele: the role of growth hormone. (14532832)	Del Gado R.... Sirigu A.	2003	IGF1
6	Spontaneous nocturnal leptin secretion in children with myelomeningocele and growth hormone deficiency. (12218376)	Trollmann R.... Dotsch J.	2002	LEP
7	Arm span, serum IGF-1 and IGFBP-3 levels as screening parameters for the diagnosis of growth hormone deficiency in patients with myelomeningocele--preliminary data. (9667397)	Trollmann R.... DAPrr H.G.	1998	IGF1, IGFBP3
8	Precocious puberty in children with myelomeningocele: treatment with gonadotropin-releasing hormone analogues. (9459215)	Trollmann R.... DAPrr H.G.	1998	GNRH1
9	Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. (9482647)	Nye J.S.... Charrow J.	1998	PAX3
10	Bone mineral density in children with myelomeningocel e. (9724682)	Quan A.... Baum M.	1998	BGLAP
11	Endocrine studies in children with myelomeningocele. (7820216)	Perrone L.... Del Gado R.	1994	PRL, TRH
12	Waardenburg syndrome and myelomeningocele in a family. (8423616)	Chatkupt S.... Johnson W.G.	1993	PAX3

Genes related to myelomeningocele according to GeneCards:

(show all 16)

id	Symbol	Description	Score	GeneCards Section Context
1	PAX3	paired box 3	11.0	Publications
2	CBS	cystathionine-beta-synthase	11.0
3	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	11.0	Publications
4	TPPP3	tubulin polymerization-promoting protein family member 3	11.0	Publications
5	VANGL1	vang-like 1 (van gogh, Drosophila)	11.0
6	TRH	thyrotropin-releasing hormone	11.0	Publications
7	MTHFD1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	11.0
8	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	11.0
9	PRICKLE1	prickle homolog 1 (Drosophila)	11.0
10	MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	11.0
11	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
12	GNRH1	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	11.0	Publications
13	IGFBP3	insulin-like growth factor binding protein 3	11.0	Publications
14	IGF1	insulin-like growth factor 1 (somatomedin C)	11.0	Publications
15	PRL	prolactin	11.0	Publications
16	LEP	leptin	11.0	Publications

Pathways related to myelomeningocele according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	One carbon pool by folate20	9.6	MTHFR, MTR, MTHFD1
2	Antimetabolite Pathway - Folate Cycle, Pharmacodynamics34	9.0	CBS, MTHFD1, MTR, MTHFR, MTRR
3	Methotrexate Pathway (Cancer Cell), Pharmacodynamics34	8.9	MTHFR, MTR, MTHFD1, CBS, MTRR
4	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics34	8.7	MTRR, CBS, MTHFD1, MTR, MTHFR

Compounds related to myelomeningocele according to GeneDecks:

(show top 50)    (show all 111)

id	Compound	Score	Top Affiliating Genes
1	25-hydroxyvitamin d32	9.8	BGLAP, LEP
2	5,10-methenyltetrahydrofolate32	9.8	MTR, MTHFD1, CBS, MTHFR
3	b vitamins32	9.7	MTRR, MTR, CBS, MTHFR
4	methylcobalamin32 18	10.7	MTRR, MTHFR, MTR, CBS
5	5-methyltetrahydrofolate32 9 9	11.7	CBS, MTHFR, MTR, MTRR
6	estradiol32 9 18 9	12.7	PRL, TRH
7	betaine32 18	10.7	MTRR, MTHFR, MTR, CBS
8	methylmalonic acid32 18	10.7	CBS, MTHFR, MTRR, MTR
9	cyanocobalamin34 9 18 9	12.7	MTHFR, MTRR, MTR
10	vitamin b632	9.6	MTR, CBS, MTHFR, MTHFD1
11	hydroxocobalamin32 9 9	11.6	MTR, MTHFR, MTRR
12	10-formyltetrahydrofolate32	9.6	MTHFD1, MTR, MTHFR
13	cystathionine32	9.5	CBS, MTHFR, MTRR, MTR, MTHFD1
14	cobalamin32 18	10.5	CBS, MTRR, MTHFR, MTR, MTHFD1
15	bromocriptine32 9 9	11.3	PRL, TRH, GNRH1
16	thymidylate32	9.3	MTHFD1, MTR, CBS, MTRR, MTHFR
17	s-adenosylhomocysteine32 18	10.3	CBS, MTRR, MTHFR, MTR
18	homocysteine32 18	10.3	CBS, MTR, MTHFR, MTRR, MTHFD1
19	gnrh32	9.0	IGFBP3, IGF1, LEP, TRH
20	methimazole32 9 9	10.9	TRH, BGLAP, IGFBP3, IGF1
21	folate32	8.9	MTR, MTHFR, MTRR, CBS, MTHFD1, IGFBP3
22	fenfluramine32 9 9	10.7	PRL, IGFBP3, TRH, LEP
23	ghrp32	8.7	PRL, TRH, IGF1, IGFBP3
24	pyridostigmine32 9 9	10.6	PRL, IGF1, IGFBP3, TRH
25	vitamin b1232	8.6	CBS, IGF1, IGFBP3, MTR, MTHFR, MTRR
26	methotrexate32 34 42 9 9	12.6	CBS, LEP, MTRR, MTR, MTHFR, IGFBP3
27	naloxone32 34 9 9	11.6	PRL, TRH, LEP, GNRH1
28	alpha tocopherol32	8.5	IGF1, IGFBP3, LEP, BGLAP, MTHFR
29	buserelin32 9 9	10.5	IGFBP3, IGF1, GNRH1, PRL
30	clomiphene citrate32	8.4	GNRH1, PRL, IGFBP3, IGF1
31	creatinine32	8.4	IGFBP3, LEP, MTHFR, MTR, IGF1
32	naltrexone32 34 9 9	11.4	GNRH1, IGF1, PRL, IGFBP3
33	cabergoline32 9 9	10.4	GNRH1, IGFBP3, IGF1, PRL
34	estrone sulfate32 18	9.4	BGLAP, IGFBP3, IGF1, PRL
35	raloxifene32 9 9	10.4	IGF1, BGLAP, GNRH1, IGFBP3
36	leuprolide32 42 9 9	11.3	PRL, GNRH1, IGF1
37	octreotide32 42 9 9	11.2	TRH, IGFBP3, PRL, GNRH1, IGF1
38	triiodothyronine32	8.1	LEP, IGFBP3, IGF1, TRH, PRL
39	glutamate32	8.0	MTR, CBS, GNRH1, LEP, IGFBP3, MTHFR
40	dehydroepiandrosterone sulfate32	7.9	IGFBP3, PRL, GNRH1, IGF1, LEP
41	androstenedione32 18	8.9	LEP, IGFBP3, GNRH1, PRL, IGF1
42	clonidine32 9 9	9.7	TRH, PRL, BGLAP, LEP, IGF1, IGFBP3
43	acth32	7.6	PRL, LEP, IGFBP3, GNRH1, TRH, IGF1
44	estrone32 9 18 9	10.6	BGLAP, IGFBP3, IGF1, LEP, PRL, GNRH1
45	dihydrotestosterone32 9 18 9	10.5	IGF1, BGLAP, GNRH1, LEP, PRL, IGFBP3
46	tamoxifen32 34 9 9	10.3	BGLAP, IGFBP3, IGF1, LEP, PRL, GNRH1
47	thyroxine32 18	8.3	LEP, BGLAP, IGFBP3, IGF1, TRH, PRL
48	testosterone32 9 18 9	9.9	PRL, TRH, GNRH1, IGF1, IGFBP3, MTHFR
49	arginine32	6.8	BGLAP, LEP, IGFBP3, IGF1, GNRH1, CBS
50	estrogen32	6.6	BGLAP, IGFBP3, MTR, MTHFR, LEP, GNRH1

Cellular components related to myelomeningocele according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	insulin-like growth factor binding protein complex	GO:016942	9.3	IGFBP3, IGF1

Biological processes related to myelomeningocele according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	establishment of planar polarity	GO:001736	INF	,
2	tetrahydrofolate interconversion	GO:035999	10.0	MTHFD1, MTHFR
3	folic acid metabolic process	GO:046655	9.9	MTHFR, MTHFD1
4	homocysteine metabolic process	GO:050667	9.9	MTHFR, MTR, CBS
5	methionine biosynthetic process	GO:009086	9.9	MTHFD1, MTHFR, MTRR
6	bone mineralization involved in bone maturation	GO:035630	9.5	IGF1, LEP
7	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	9.3	IGF1, IGFBP3
8	response to ethanol	GO:045471	9.0	GNRH1, TRH, BGLAP
9	positive regulation of MAPK cascade	GO:043410	9.0	IGFBP3, IGF1, LEP
10	female pregnancy	GO:007565	8.6	PRL, LEP, GNRH1
11	neural tube closure	GO:001843	INF	, PRICKLE1, ,

Molecular functions related to myelomeningocele according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	modified amino acid binding	GO:072341	10.0	MTHFR, CBS
2	hormone activity	GO:005179	7.8	LEP, IGF1, GNRH1, PRL