Brain Malformations malady

MedlinePlus: Most brain malformations begin long before a baby is born. something damages the developing nervous system or causes it to develop abnormally. sometimes it's a genetic problem. in other cases, exposure to certain medicines, infections or radiation during pregnancy interferes with brain development. types of brain malformations include missing parts of the brain, abnormal growth of certain parts of the brain, and incomplete division of the brain. there are head malformations that do not involve the brain. craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. it's common for new babies to have slightly lopsided heads, but parents should watch the shape of their baby's head for possible problems.²³

MalaCards: Brain Malformations is related to corpus callosum agenesis and lissencephaly. An important gene associated with Brain Malformations is TUBB3 (tubulin, beta 3 class III), and among its related pathways are Pathogenic Escherichia coli infection and Cytoskeleton remodeling Slit-Robo signaling. The compounds thymosin beta4 and " 187-1, n-wasp inhibitor " have been mentioned in the context of this disorder. Affiliated tissues include brain and cerebellum, and related mouse phenotypes are muscle and behavior/neurological.

brain malformations 17 23

Diseases related to brain malformations by text searches and GeneDecks gene sharing:

(show top 50)    (show all 144)

id	Related Disease	Score	Top Affiliating Genes
1	corpus callosum agenesis	28.4	L1CAM, ARX, TUBB3
2	lissencephaly	28.1	PAFAH1B1, ARX, MAP2, GPR56, WDR62, SYP
3	microcephaly	27.7	PAFAH1B1, L1CAM, FTO, FOXG1, ARX, GPR56
4	subcortical laminar heterotopia	13.5	PAFAH1B1, DCX
5	lissencephaly x-linked	13.4	PAFAH1B1, ARX, DCX
6	lissencephaly 1	13.4	PAFAH1B1, DCX
7	schizencephaly	13.4	WDR62, SOX2, EMX2
8	pachygyria	13.4	PAFAH1B1, WDR62, DCX
9	polymicrogyria	13.4	GPR56, TUBB3, WDR62
10	lower motor neuron disease	13.3	SYP, SOD1
11	focal epilepsy	13.3	PAFAH1B1, GPR56, DCX, EMX2
12	infantile epileptic encephalopathy	13.3	PAFAH1B1, ARX, TSC2
13	central neurocytoma	13.2	MAP2, SYP
14	brain ischemia	13.1	MAP2, TUBB3, DCX, SOD1
15	hirschsprung's disease	13.1	L1CAM, CTSD, SYP
16	cerebral hemorrhage	13.0	SERPINA3, CTSD, SYP, SOD1
17	heterotopia	12.9	PAFAH1B1, MAP2, GPR56, DCX, EMX2
18	transient cerebral ischemia	12.9	MAP2, CTSD, SOD1
19	periventricular nodular heterotopia	12.9	PAFAH1B1, GPR56, TSC2, DCX, EMX2
20	ganglioneuroma	12.9	MBP, SYP, DCX
21	granular cell tumor	12.8	SERPINA3, MBP, SYP
22	head injury	12.8	MBP, SYP, SOD1
23	developmental disabilities	12.8	PAFAH1B1, FGFR2, DCX
24	corpus callosum	12.8	PAFAH1B1, L1CAM, ARX, TUBB3, WDR62, DCX
25	blastoma	12.8	MTOR, SYP, DCX
26	ependymoma	12.8	MAP2, TSC2, SYP, DCX
27	neuronal migration disorders	12.8	PAFAH1B1, ARX, MAP2, GPR56, DCX, EMX2
28	subependymal giant cell astrocytoma	12.8	MTOR, TSC2, SYP
29	pandas	12.8	MAP2, TUBB, CTSD, SOD1
30	temporal lobe epilepsy	12.7	MAP2, GLUL, CTSD, DCX, SOD1
31	prion disease	12.7	SERPINA3, MAP2, GLUL, TUBB
32	focal cortical dysplasia	12.7	MTOR, TSC2, DCX
33	adenoiditis	12.7	SERPINA3, L1CAM, CTSD, SYP, SOD1
34	perivascular epithelioid cell tumor	12.7	MTOR, TSC2, SYP
35	autistic disorder	12.7	MBP, MAP2, TSC2
36	kidney angiomyolipoma	12.7	MTOR, TSC2
37	traumatic brain injury	12.7	MBP, TUBB3, SYP, DCX, SOD1
38	pilocytic astrocytoma	12.7	MBP, CTSD, SYP, DCX
39	aicardi-goutieres syndrome	12.7	SERPINA3, ARX, MBP, TSC2
40	cerebral amyloid angiopathy	12.7	SERPINA3, MBP, TUBB
41	growth mental deficiency syndrome of myhre	12.7	FTO, ARX, MBP
42	polyneuropathy	12.7	MBP, TUBB, TUBB3, SOD1
43	gliosis	12.6	MBP, MAP2, GLUL, SYP
44	small cell carcinoma	12.6	MAP2, CTSD, TSC2, SYP
45	spasticity	12.6	L1CAM, ARX, MBP, TUBB3, SOD1
46	cerebellar hypoplasia	12.5	L1CAM, FGFR2, DCX
47	ganglioglioma	12.5	MAP2, TUBB, TSC2, SYP, DCX
48	small-cell cancer of lung	12.5	MAP2, TUBB, CTSD, SYP, SOX2
49	benign tumors	12.5	MBP, CTSD, TSC2, SOD1, SOX2
50	hypotonia	12.4	FOXG1, CASK, TUBB3, SOD1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to brain malformations:

²²

MGI Mouse Phenotypes related to brain malformations:

²⁵ (show all 14)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	INF	, SOD1, SOX2, MTOR, FOXG1, ARX
2	behavior/neurological phenotype	MP:0005386	INF	TSC2, FOXG1, EMX2, SOX2, SOD1, DCX
3	mortality/aging	MP:0010768	INF	GLUL, CASK, MAP2, FGFR2, MBP, TUBB3
4	growth/size phenotype	MP:0005378	INF	CASK, GLUL, CTSD, , FGFR2, ARX
5	hearing/vestibular/ear phenotype	MP:0005377	INF	, , FGFR2, SOD1, FOXG1, SOX2
6	integument phenotype	MP:0010771	9.1	L1CAM, FOXG1, FGFR2, ARX, GPR56
7	skeleton phenotype	MP:0005390	8.4	EMX2, FGFR2, L1CAM, MTOR
8	nervous system phenotype	MP:0003631	7.2	MBP, PAFAH1B1, ARX, MAP2, GPR56, GLUL
9	cellular phenotype	MP:0005384	5.8	TUBB3, PAFAH1B1, CASK, GPR56, MBP, FGFR2
10	reproductive system phenotype	MP:0005389	INF	PAFAH1B1, L1CAM, ARX, FGFR2, DCX, MBP
11	no phenotypic analysis	MP:0003012	INF	SYP, DCX, L1CAM, , EMX2, SOX2
12	homeostasis/metabolism phenotype	MP:0005376	INF	SOD1, SOX2, GLUL, MBP, FGFR2, ARX
13	vision/eye phenotype	MP:0005391	INF	L1CAM, FOXG1, FGFR2, MBP, EMX2, SOX2
14	endocrine/exocrine gland phenotype	MP:0005379	INF	EMX2, ARX, FOXG1, PAFAH1B1, FGFR2, CTSD

Articles related to brain malformations:

(show all 13)

id	Title	Authors	Year	Affiliating Genes
1	Whole-exome sequencing identifies recessive WDR62 mut ations in severe brain malformations. (20729831)	BilgA1var K.... GA1nel M.	2010	WDR62
2	Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing (18808783)	Bahi-Buisson N.... Chelly J.	2008	GPR56, ARX
3	Two new cases of pure 1q terminal deletion presenting with brain malformations. (18384145)	Hiraki Y.... Matsumoto N.	2008	L1CAM
4	Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. (19165920)	Najm J.... Kutsche K.	2008	CASK
5	A new autosomal recessive syndrome of ocular coloboma s, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emi rati family. (18271001)	Al-Gazali L.... Dattani M.	2008	SOD1
6	Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. (17882438)	Raybaud C.... Di Rocco C.	2007	FGFR2
7	Focal brain malformations: a spectrum of disorders along the mTOR cascade. (18494264)	Crino P.B.	2007	MTOR
8	Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. (16133170)	Shoichet S.A.... Kalscheuer V.M.	2005	FOXG1
9	Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. (16283891)	Zenteno J.C.... Tovilla-Canales J.L.	2005	SOX2
10	Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. (12185771)	Guerrini R.... Carrozzo R.	2002	PAFAH1B1, DCX, EMX2
11	Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. (11749114)	Guerrini R.... Carrozzo R.	2001	TSC2, DCX, EMX2
12	Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. (7907669)	Dobyns W.B.... Ledbetter D.H.	1993	PAFAH1B1
13	Immunohistochemical studies on the new type of astrocytic inclusions identified in a patient with brain malformation. (1332366)	Kato S.... Minagawa M.	1992	CTSD, MBP, TUBB

Genes related to brain malformations according to GeneCards:

(show all 23)

id	Symbol	Description	Score	GeneCards Section Context
1	TUBB3	tubulin, beta 3 class III	11.0
2	SOD1	superoxide dismutase 1, soluble	11.0	Publications
3	EMX2	empty spiracles homeobox 2	11.0	Publications
4	FOXG1	forkhead box G1	11.0	Publications
5	ARX	aristaless related homeobox	11.0	Publications
6	DCX	doublecortin	11.0	Publications
7	SOX2	SRY (sex determining region Y)-box 2	11.0	Publications
8	WDR62	WD repeat domain 62	11.0	Publications
9	PAFAH1B1	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	11.0	Publications
10	GPR56	G protein-coupled receptor 56	11.0	Publications
11	L1CAM	L1 cell adhesion molecule	11.0	Publications
12	GLUL	glutamate-ammonia ligase	11.0
13	SYP	synaptophysin	11.0	Publications
14	SERPINA3	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	11.0	Publications
15	CTSD	cathepsin D	11.0	Publications
16	TSC2	tuberous sclerosis 2	11.0	Publications
17	TUBB	tubulin, beta class I	11.0	Publications
18	CASK	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	11.0	Publications
19	MAP2	microtubule-associated protein 2	11.0	Publications
20	FGFR2	fibroblast growth factor receptor 2	11.0	Publications
21	MBP	myelin basic protein	11.0	Publications
22	MTOR	mechanistic target of rapamycin (serine/threonine kinase)	11.0	Publications
23	FTO	fat mass and obesity associated	11.0

Pathways related to brain malformations according to GeneDecks:

(show all 20)

id	Pathway	Score	Top Affiliating Genes
1	Pathogenic Escherichia coli infection20	INF	TUBB3, TUBB, ,
2	Cytoskeleton remodeling Slit-Robo signaling10	INF	, TUBB3, TUBB,
3	Cytoskeleton remodeling Keratin filaments10	INF	, TUBB3, TUBB,
4	Cytoskeleton remodeling_Neurofilaments41	INF	TUBB3, TUBB, ,
5	Cell adhesion Gap junctions10	INF	TUBB, , , TUBB3
6	Cytoskeleton remodeling_Keratin filaments41	INF	TUBB3, , TUBB,
7	Cytoskeleton remodeling Neurofilaments10	INF	TUBB3, , , TUBB
8	Cell adhesion_Gap junctions41	INF	, TUBB, TUBB3,
9	Development_Slit-Robo signaling41	INF	, , TUBB3, TUBB
10	Cytoskeleton remodeling_Reverse signaling by ephrin B41	INF	, TUBB, TUBB3,
11	Cytoskeleton remodeling Reverse signaling by ephrin B10	INF	, TUBB3, TUBB,
12	Neurophysiological process Receptor-mediated axon growth repulsion10	INF	, TUBB3, TUBB,
13	Neurophysiological process_Receptor-mediated axon growth repulsion41	INF	, , TUBB3, TUBB
14	Cytoskeletal Signaling3	INF	TUBB, , , DCX, TUBB3
15	Phagosome20	INF	, , TUBB, TUBB3
16	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway10	9.5	TUBB3, TUBB, CASK
17	Selected targets of GCR-alpha10	9.1	TUBB, MAP2, GLUL
18	Neuroscience3	8.7	TUBB3, SOD1, DCX, SYP, TUBB, CASK
19	Signaling by EGFR38	8.7	MTOR, FGFR2, TSC2
20	Cytoplasmic microtubules10	INF	TUBB, , TUBB3, PAFAH1B1, MAP2

Compounds related to brain malformations according to GeneDecks:

(show top 50)    (show all 51)

id	Compound	Score	Top Affiliating Genes
1	thymosin beta442	INF	,
2	187-1, n-wasp inhibitor 42	INF	,
3	alpha-tocopheryl acetate32	10.2	CTSD, SOD1
4	gold32	10.2	SYP, SERPINA3
5	estramustine32 9 9	11.9	TUBB, TUBB3, MAP2
6	3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide32	9.7	TUBB3, MAP2, TUBB
7	Epothilone D9 9	10.6	TUBB3, TUBB
8	glucose32	9.6	TSC2, FGFR2
9	nocodazole32 42 9 9	12.5	TUBB, CTSD, MAP2, TUBB3
10	colchicine32 9 9	11.4	TUBB3, TUBB, MAP2
11	dmso32	9.4	SOD1, TUBB3, MAP2, CTSD
12	alanine32	9.3	ARX, MBP, GLUL, CTSD
13	kainate32	9.2	DCX, MAP2, MBP, SYP
14	bromodeoxyuridine32	9.2	TUBB, FGFR2, MAP2, TUBB3, DCX
15	methionine32	9.0	MAP2, TUBB, GLUL, SERPINA3, CTSD
16	formaldehyde32 18	10.0	MBP, TUBB, CTSD, GLUL, SYP
17	docetaxel32 34 9 9	12.0	TUBB3, MTOR, MAP2, TUBB
18	ganglioside32	9.0	MAP2, SYP, MBP, FGFR2
19	ethanol32 34 9 18 9	12.9	CTSD, SYP, GLUL, MAP2, FGFR2
20	calcium32 9 18 9	11.8	SERPINA3, DCX, CTSD, GLUL, MAP2, PAFAH1B1
21	h2o232	8.8	FGFR2, GLUL, TUBB, MBP, SYP
22	oxygen32 18	9.8	SERPINA3, MAP2, GLUL, TSC2, TUBB, CTSD
23	silver32	8.7	MBP, MAP2, GLUL, CTSD, SYP, SERPINA3
24	lactate32	8.6	TUBB, MAP2, MBP, GLUL, CTSD, SOD1
25	gaba32 42	9.6	TUBB3, GLUL, ARX, TUBB, SYP, MAP2
26	creatinine32	8.5	SOD1, SERPINA3, MBP, GLUL, SYP, CTSD
27	glycogen32 18	9.5	SYP, GLUL, MAP2, MTOR, TSC2
28	paclitaxel32 34 9 9	11.4	CTSD, TUBB3, TUBB, MAP2, MBP, FGFR2
29	nitric oxide32 9 18 9	11.3	CTSD, TUBB3, FGFR2, MAP2, GLUL, TUBB
30	gtp32	8.3	GLUL, TUBB, MAP2, MTOR, SYP, TSC2
31	12-o-tetradecanoylphorbol 13-acetate32	8.2	CTSD, GLUL, MBP, FGFR2, MTOR
32	okadaic acid32 42	9.2	MTOR, TSC2, TUBB, MAP2, MBP
33	adenylate32	8.0	GLUL, TUBB, CTSD, TSC2, FGFR2, MAP2
34	glutamate32	7.9	GLUL, MAP2, MBP, FGFR2, L1CAM, TUBB3
35	vegf32	7.8	TSC2, CTSD, FGFR2, SYP, DCX, MAP2
36	cysteine32	7.8	MBP, TUBB, FGFR2, GLUL, CTSD, SOD1
37	cisplatin32 34 9 9	10.8	MTOR, FGFR2, MBP, TUBB, TUBB3, CTSD
38	arginine32	7.7	SERPINA3, MTOR, FGFR2, SOD1, TSC2, GLUL
39	testosterone32 9 18 9	10.7	TSC2, MAP2, FGFR2, SYP, MTOR, CTSD
40	atp32	7.4	FGFR2, GLUL, TUBB, CTSD, TSC2, MTOR
41	paraffin32	7.4	MBP, FGFR2, SERPINA3, MAP2, GLUL, TUBB
42	retinoic acid32 42 18	9.2	SERPINA3, SYP, CTSD, TUBB3, MBP, FGFR2
43	threonine32	7.2	FGFR2, GLUL, MAP2, MBP, MTOR, SERPINA3
44	steroid32	7.0	PAFAH1B1, MTOR, SYP, FGFR2, MAP2, GLUL
45	lipid32	7.0	GLUL, TSC2, MBP, FGFR2, SERPINA3, MTOR
46	tyrosine32	6.4	SYP, MBP, MTOR, L1CAM, FGFR2, MAP2
47	estrogen32	6.2	TUBB3, MTOR, FGFR2, MBP, MAP2, GLUL
48	serine32	6.1	DCX, MTOR, SYP, PAFAH1B1, SERPINA3, MBP
49	superoxide32 18	INF	SYP, MAP2, SERPINA3, GLUL, , SOD1
50	glyceraldehyde 3-phosphate32	INF	, CTSD, TUBB, GLUL, FGFR2

Cellular components related to brain malformations according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	INF	SOX2, SOD1, DCX, TSC2, ,
2	microtubule associated complex	GO:005875	9.3	DCX, MAP2, PAFAH1B1
3	neuronal cell body	GO:043025	8.1	SOD1, MAP2, MBP, MTOR, PAFAH1B1

Biological processes related to brain malformations according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	axon guidance	GO:007411	INF	L1CAM, ARX, TUBB3, , , DCX
2	cell proliferation in forebrain	GO:021846	10.1	ARX, EMX2
3	retrograde axon cargo transport	GO:008090	10.0	SOD1, PAFAH1B1
4	cerebral cortex development	GO:021987	9.8	PAFAH1B1, WDR62, SOX2
5	transmission of nerve impulse	GO:019226	9.8	PAFAH1B1, SOD1
6	regulation of multicellular organism growth	GO:040014	9.3	FGFR2, FTO, SOD1