Microcephaly malady

NIH Rare Diseases: Microcephaly is a neurological condition in which a person's head is significantly smaller than normal for their age and sex, based on standardized charts. This condition, which most often occurs because the brain fails to grow at a normal rate, can be present at birth or it may develop in the first few years of life. Conditions that affect brain growth and can cause microcephaly include infections, genetic disorders, severe malnutrition and other environmental factors. Some children with microcephaly will be of normal intelligence and development. However, many children with microcephaly experience complications such as developmental delays, difficulties with balance and coordination, short stature, hyperactivity, mental retardation, seizures or other neurological abnormalities. While there's no treatment for microcephaly, early intervention may help enhance development and improve quality of life.³⁰

MalaCards: Microcephaly, also known as microencephaly, is related to primary autosomal recessive microcephaly and nijmegen breakage syndrome. An important gene associated with Microcephaly is ASPM (asp (abnormal spindle) homolog, microcephaly associated (Drosophila)), and among its related pathways are Cell cycle and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The compounds alanine and serine have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and heart, and related mouse phenotypes are tumorigenesis and cardiovascular system.

NINDS: Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing.³¹

Wikipedia: Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two...⁴⁴ more...

Aliases & Descriptions:

microcephaly 6 7 44 30 17 31 8 32 microencephaly 6 30 microcephalus nos (disorder) 6 micrencephaly (disorder) 6

microcephalus (disorder) 6 microcephalus 6 micrencephaly 6

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

(show top 50)    (show all 327)

id	Related Disease	Score	Top Affiliating Genes
1	primary autosomal recessive microcephaly	33.7	CENPJ, CDK5RAP2, ASPM, MCPH1
2	nijmegen breakage syndrome	31.1	NBN, BRCA1, RAD50, LIG4, CHEK1, ATR
3	seizures	30.6	SEPSECS, NAT8L, PAFAH1B1, PAX6, UBE3A, L1CAM
4	corpus callosum	29.1	RAB3GAP1, RAB3GAP2, RAB18, PAFAH1B1, ZEB2, L1CAM
5	angelman syndrome	29.1	UBE3A, ATP10A, CDKL5, ASPM, MECP2, APPL1
6	lissencephaly	29.0	NDE1, PAFAH1B1, ARFGEF2, ARX, GPR56, TUBA1A
7	short stature	28.8	ZNF592, RENS2, VPS13B, RBM28, RAD50, ZBTB16
8	cohen syndrome	28.7	VPS13B, INPP5E, COHEN2
9	recessive developmental delay, small stature, microcephaly and brain calcifications	28.7	VPS13B, NBN, LIG4, PAFAH1B1, PAX6, FGFR3
10	corpus callosum agenesis	28.7	L1CAM, ARX, AKT3, EOMES
11	rett syndrome	28.6	UBE3A, ATRX, CDKL5, FOXG1, MECP2, SOX3
12	micro syndrome	28.6	RAB3GAP1, RAB3GAP2, RAB18
13	brain malformations	28.5	PAFAH1B1, L1CAM, FTO, FOXG1, ARX, GPR56
14	hypogonadism	28.4	RBM28, RAB3GAP1, RAB3GAP2, RAB18, ATRX, MEHMO
15	hirschsprung's disease	28.4	ZEB2, L1CAM, EDN3, EDNRB, GDNF
16	coloboma	27.8	PAX6, BCOR, ZEB2, DDX11, PQBP1, SHH
17	spasticity	27.7	ZNF592, CNTN2, SEPSECS, RAB3GAP1, RAB3GAP2, RAB18
18	polymicrogyria	27.6	PAX6, LAMA2, GPR56, TUBA1A, WDR62, EOMES
19	spastic diplegia	27.6	RAB3GAP1, RAB3GAP2, RAB18, L1CAM, MSD, ATRX
20	pontocerebellar hypoplasia type 2	27.5	SEPSECS, TSEN54, TSEN2, TSEN34
21	microphthalmia	27.5	RAB3GAP1, RAB3GAP2, RAB18, PAX6, BCOR, MNX1
22	microtia	27.4	XRCC4, CDT1, CDC6, ERCC2, TCOF1, ORC4
23	down syndrome	27.3	MYCN, PAFAH1B1, PAX6, UBE3A, ATM, MNX1
24	warburg micro syndrome	27.3	RAB3GAP1, RAB3GAP2, RAB18
25	walker-warburg syndrome	27.1	LAMA2, DAG1, POMT2, POMGNT1, POMT1
26	cerebellar hypoplasia	27.1	PAX6, L1CAM, FOXC1, LOC619409, TBX4, GDNF
27	cerebrooculofacioskeletal syndrome	27.1	ERCC2, ERCC5, ERCC6
28	wolf-hirschhorn syndrome	26.9	FGFR3, MCM8, PTER, NSD1, WHSC1, WHSC2
29	hypotonia	26.8	VPS13B, PAX6, UPB1, UBE3A, LAMA2, QDPR
30	seckel syndrome	26.5	CNTLN, PCNT, RBBP8, LIG4, CHEK1, CEP152
31	cockayne syndrome	26.2	BRCA1, ATM, ERCC2, ERCC3, ERCC5, ERCC8
32	intellectual disability	26.1	ZNF238, VPS13B, RAB3GAP1, PAFAH1B1, PAX6, ZEB2
33	optic atrophy	26.0	ZNF592, RAB3GAP1, RARS2, RAB3GAP2, RAB18, UPB1
34	cerebritis	25.5	NDE1, CNTN2, PCNT, SEPSECS, MYCN, PAFAH1B1
35	cataract	25.5	RAB3GAP1, RAB3GAP2, RAB18, PAX6, BCOR, FTO
36	anemia	24.9	CNTLN, NBN, BRCA1, RAD50, LIG4, ZBTB16
37	ataxia	24.8	ZNF592, KIAA1279, PCNT, RBBP8, NBN, NAT8L
38	esophagitis	22.6	BUB1B, RBBP8, NBN, BRCA1, MYCN, LIG4
39	immunodeficiency	21.6	CNTN2, NBN, BRCA1, RAD50, LIG4, CHEK1
40	thyroiditis	21.2	KIF11, BUB1B, NBN, MYCN, LIG4, ZBTB16
41	meier-gorlin syndrome	14.1	CDT1, CDC6, ORC4, ORC1, ORC6
42	aicardi-goutieres syndrome	14.1	CDKL5, ARX, MECP2, IMMT, OPLAH, SLC2A1
43	mental retardation, x-linked	14.1	ATRX, ARX, MECP2, CASK, DLG3, PQBP1
44	mental retardation syndrome	14.1	ZEB2, UBE3A, L1CAM, ATRX, GUST, MECP2
45	west syndrome	14.1	CDKL5, FOXG1, ARX, MECP2, PTCH1, PNKP
46	cerebral atrophy	14.1	SEPSECS, SAMHD1, TREX1, RNASEH2C, RNASEH2A, RNASEH2B
47	holoprosencephaly	14.0	MNX1, FOXG1, PTCH1, PTER, SHH, TGIF1
48	neuronal migration disorders	14.0	PAFAH1B1, ARFGEF2, ARX, GPR56, LOC619409, POMGNT1
49	pontocerebellar hypoplasia type 2 and type 4	13.9	TSEN54, TSEN2, TSEN34
50	mental retardation epilepsy	13.9	ATRX, ARX, PHF6, SLC9A6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to microcephaly:

²²

MGI Mouse Phenotypes related to microcephaly:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	INF	BUB1B, , NBN, BRCA1, RAD50, LIG4
2	cardiovascular system phenotype	MP:0005385	INF	BRCA1, MYCN, PAX6, BCOR, CHEK1, ATR
3	hematopoietic system phenotype	MP:0005397	INF	BUB1B, NBN, BRCA1, MYCN, RAD50, LIG4
4	vision/eye phenotype	MP:0005391	INF	BUB1B, MYCN, PAX6, ZEB2, L1CAM, ATRX
5	immune system phenotype	MP:0005387	INF	BUB1B, NBN, BRCA1, RAD50, LIG4, PAX6
6	behavior/neurological phenotype	MP:0005386	INF	CNTN2, PCNT, NBN, MYCN, RAD50, LIG4
7	craniofacial phenotype	MP:0005382	INF	NBN, MYCN, LIG4, PAX6, BCOR, ZEB2
8	homeostasis/metabolism phenotype	MP:0005376	INF	BUB1B, BRCA1, MYCN, LIG4, PAX6, ZBTB16
9	limbs/digits/tail phenotype	MP:0005371	INF	PCNT, BRCA1, MYCN, ZBTB16, , FOXC1
10	endocrine/exocrine gland phenotype	MP:0005379	9.3	NBN, BRCA1, RAD50, PAFAH1B1, ZBTB16, LAMA2
11	reproductive system phenotype	MP:0005389	INF	KIF11, VRK1, BUB1B, NBN, BRCA1, MYCN
12	mortality/aging	MP:0010768	INF	ZNF238, KIF26B, KIF11, PCNT, BUB1B,
13	renal/urinary system phenotype	MP:0005367	INF	KIF26B, BRCA1, MYCN, PAX6, ATR, FTO
14	embryogenesis phenotype	MP:0005380	INF	KIF11, PCNT, BUB1B, , NBN, BRCA1
15	nervous system phenotype	MP:0003631	INF	ZNF238, NDE1, CNTN2, PCNT, NBN, BRCA1
16	muscle phenotype	MP:0005369	INF	BUB1B, BRCA1, MYCN, PAX6, LAMA2,
17	cellular phenotype	MP:0005384	INF	ZNF238, NDE1, VRK1, PCNT, BUB1B,
18	growth/size phenotype	MP:0005378	INF	ZNF238, KIF11, PCNT, BUB1B, NBN, BRCA1
19	digestive/alimentary phenotype	MP:0005381	INF	BRCA1, MYCN, LIG4, PAX6, ATR, MNX1
20	skeleton phenotype	MP:0005390	INF	BUB1B, BRCA1, MYCN, ZBTB16, LAMA2, XRCC4
21	no phenotypic analysis	MP:0003012	INF	RAB18, ZEB2, UBE3A, L1CAM, CEP152, ATM
22	integument phenotype	MP:0010771	INF	BUB1B, BRCA1, PAX6, CHEK1, UBE3A, XRCC4
23	respiratory system phenotype	MP:0005388	INF	BRCA1, MYCN, RAD50, PAX6, ATR, MNX1

Articles related to microcephaly:

(show top 50)    (show all 108)

id	Title	Authors	Year	Affiliating Genes
1	Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. (22305528)	Lines M.A.... Boycott K.M.	2012	EFTUD2
2	Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. (22284827)	Ostergaard P.... Jeffery S.	2012	KIF11
3	Intragenic deletion in DYRK1A leads to mental retarda tion and primary microcephaly. (21294719)	van Bon B.W.... de Vries B.B.	2011	DYRK1A
4	Microcephaly genes and risk of late-onset Alzheimer d isease. (21297427)	Erten-Lyons D.... Kaye J.	2011	CDK5RAP2, CENPJ, ASPM
5	Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. (21835305)	Poulton C.J.... Mancini G.M.	2011	IER3IP1
6	Human mutations in NDE1 cause extreme microcephaly with lissencephaly. (21529751)	Alkuraya F.S.... Walsh C.A.	2011	NDE1
7	Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental d elay. (21285510)	He M.... Vockley J.	2011	MSMO1
8	2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. (21271666)	Chung B.H.... Yoon G.	2011	MBD5
9	Mutations in WDR62, encoding a centrosomal and nuclea r protein, in Indian primary microcephaly families with cortical malformations. (21496009)	Bhat V.... Kumar A.	2011	WDR62
10	Primary microcephaly 3 (MCPH3): revisiting two critic al mutations. (21512315)	Park J.S.... Lee K.Y.	2011	CDK5RAP2
11	Acquired microcephaly, regression of milestones, mito chondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MEC P2 gene mutation. (20142466)	Condie J.... Wainwright M.S.	2010	MECP2
12	Craniosynostosis-microcephaly with chromosomal breaka ge and other abnormalities is caused by a truncating MCPH1 mutation and is alle lic to premature chromosomal condensation syndrome and primary autosomal recess ive microcephaly type 1. (20101680)	Farooq M.... Kjaer K.W.	2010	MCPH1
13	Mutation analysis of the ASPM gene in 18 Pakistani fa milies with autosomal recessive primary microcephaly. (19808985)	Kousar R.... Ansar M.	2010	ASPM
14	Microcephaly, sensorineural deafness and Currarino tr iad with duplication-deletion of distal 7q. (19838731)	Pavone P.... Dobyns W.B.	2010	IGF1, MNX1
15	WDR62 is associated with the spindle pole and is muta ted in human microcephaly. (20890279)	Nicholas A.K.... Woods C.G.	2010	WDR62
16	A truncating mutation of TRAPPC9 is associated with a utosomal-recessive intellectual disability and postnatal microcephaly. (20004763)	Mochida G.H.... Walsh C.A.	2009	NFKB1, TRAPPC9
17	A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. (19452620)	Hanemaaijer N.... van Ravenswaaij-Arts C.M.	2009	POMGNT1
18	Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. (19770472)	Passemard S.... Verloes A.	2009	ASPM
19	Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. (19215732)	Kumar A.... Blanton S.H.	2009	CDK5RAP2, CENPJ, ASPM
20	Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian fami ly. (19332161)	Saadi A.... Chaouch M.	2009	ASPM
21	Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. (18203155)	van Bever Y.... Gischler S.J.	2008	PAX6, FOXC1
22	Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. (18636190)	Hagemann C.... Vince G.H.	2008	ASPM, MCPH1
23	Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. (18405873)	Moller R.S.... Kalscheuer V.M.	2008	DYRK1A
24	Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. (18452193)	Desir J.... Abramowicz M.	2008	ASPM
25	Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly. (17849285)	Gul A.... Ahmad W.	2007	ASPM
26	A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling 'Nijmegen breakage syndrome' phenotype. (17395558)	Berardinelli F.... Antoccia A.	2007	NBN
27	A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. (17356545)	Morava E.... Wevers R.A.	2007	COG5, COG7
28	A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features. (17223398)	Hoffer M.J.... Rosenberg C.	2007	ZEB2
29	The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. (16575835)	van Reeuwijk J.... van Bokhoven H.	2006	DAG1, POMT1
30	A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. (16900296)	Gul A.... Ahmad W.	2006	CENPJ
31	What primary microcephaly can tell us about brain growth. (16829198)	Cox J.... Woods C.G.	2006	CDK5RAP2, CENPJ, CDK5R2
32	Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. (16439204)	Buck D.... Revy P.	2006	NHEJ1
33	ASPM mutations identified in patients with primary microcephaly and seizures. (16141009)	Shen J.... Walsh C.A.	2005	ASPM
34	The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein. (16123590)	Zhong X.... Xu X.	2005	BRCA1, ASPM
35	X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. (16053905)	Van Esch H.... Devriendt K.	2005	DLG3
36	Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. (16015581)	de Ru M.H.... van Hagen J.M.	2005	ATR, FOXL2
37	The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. (15972725)	Kouprina N.... Larionov V.	2005	ASPM
38	BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. (16217032)	Lin S.Y.... Elledge S.J.	2005	CHEK1, BRCA1, MCPH1
39	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental r etardation in another family with microcephaly. (15024694)	Lenski C.... Schwartz C.E.	2004	PQBP1
40	Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. (15033202)	Seeman P.... SeemanovA! E.	2004	NBN
41	Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. (15355437)	Kumar A.... Girimaji S.C.	2004	ASPM
42	Human microcephaly. (15018946)	Woods C.G.	2004	MCPH1
43	Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. (12376931)	Kelley R.I.... Morton D.H.	2002	IMMT
44	Mutant deoxynucleotide carrier is associated with congenital microcephaly. (12185364)	Rosenberg M.J.... Biesecker L.G.	2002	SLC25A19
45	Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. (11525887)	Ruggieri V.... Taratuto A.L.	2001	LOC619409
46	A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. (11078481)	Pattison L.... Woods C.G.	2000	ASPM
47	Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. (10521316)	Jamieson C.R.... Abramowicz M.J.	1999	CEP152
48	The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. (10573015)	Roberts E.... Woods C.G.	1999	WDR62
49	A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). (10874640)	Brooks A.S.... Hofstra R.M.	1999	EDNRB, EDN3, GDNF
50	5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia. (7542714)	Mayatepek E.... Bremer H.J.	1995	OPLAH

Genes related to microcephaly according to GeneCards:

(show top 50)    (show all 193)

id	Symbol	Description	Score	GeneCards Section Context
1	ASPM	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	11.1	Summaries, Transcripts, Aliases & Descriptions, Proteins (show all 6 sections) Orthologs, Publications
2	SLC25A19	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	11.1	Publications, Summaries, Aliases & Descriptions
3	MCPH1	microcephalin 1	11.1	Aliases & Descriptions, Orthologs, Publications, Summaries
4	CENPJ	centromere protein J	11.1	Publications, Aliases & Descriptions, Summaries
5	CEP152	centrosomal protein 152kDa	11.1	Aliases & Descriptions, Publications, Summaries
6	CDK5RAP2	CDK5 regulatory subunit associated protein 2	11.0	Publications, Aliases & Descriptions
7	MMRFCGU	Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations	11.0	Aliases & Descriptions
8	CASK	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	11.0	Publications, Summaries
9	PHGDH	phosphoglycerate dehydrogenase	11.0	Summaries
10	NBN	nibrin	11.0	Publications, Summaries
11	WDR62	WD repeat domain 62	11.0	Publications, Aliases & Descriptions
12	JAWAD	Microcephaly with digital anomalies	11.0	Aliases & Descriptions
13	CLAM	cerebellar atrophy with progressive microcephaly	11.0	Aliases & Descriptions
14	IER3IP1	immediate early response 3 interacting protein 1	11.0	Publications, Summaries
15	PNKP	polynucleotide kinase 3'-phosphatase	11.0	Publications, Summaries
16	RNASEH2A	ribonuclease H2, subunit A	11.0	Summaries
17	TUBA1A	tubulin, alpha 1a	11.0	Summaries
18	NDE1	nudE nuclear distribution E homolog 1 (A. nidulans)	11.0	Summaries, Publications
19	CEP135	centrosomal protein 135kDa	11.0	Disorders, Summaries
20	MBD5	methyl-CpG binding domain protein 5	11.0	Summaries, Publications
21	MSD	microcephaly with spastic diplegia (Paine syndrome)	11.0	Aliases & Descriptions
22	GUST	Gustavson mental retardation syndrome (with microcephaly, optic	11.0	Aliases & Descriptions
23	MEHMO	mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome	11.0	Publications, Aliases & Descriptions
24	EFTUD2	elongation factor Tu GTP binding domain containing 2	11.0	Publications, Summaries
25	MED17	mediator complex subunit 17	11.0
26	NHEJ1	nonhomologous end-joining factor 1	11.0	Publications
27	STIL	SCL/TAL1 interrupting locus	11.0	Publications
28	ARFGEF2	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	11.0
29	LOC619409	muscular dystrophy, congenital, merosin-positive	11.0	Publications
30	PRAC	prostate cancer susceptibility candidate	11.0
31	PQBP1	polyglutamine binding protein 1	11.0	Publications
32	ADSL	adenylosuccinate lyase	11.0	Publications
33	IMMT	inner membrane protein, mitochondrial	11.0	Publications
34	POMT1	protein-O-mannosyltransferase 1	11.0	Publications
35	LIG4	ligase IV, DNA, ATP-dependent	11.0	Publications
36	MYCN	v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)	11.0
37	PAX6	paired box 6	11.0	Publications
38	ZEB2	zinc finger E-box binding homeobox 2	11.0	Publications
39	MECP2	methyl CpG binding protein 2 (Rett syndrome)	11.0	Publications
40	ATRX	alpha thalassemia/mental retardation syndrome X-linked	11.0	Publications
41	TGIF1	TGFB-induced factor homeobox 1	11.0
42	ATR	ataxia telangiectasia and Rad3 related	11.0	Publications
43	SHH	sonic hedgehog	11.0
44	DLD	dihydrolipoamide dehydrogenase	11.0
45	BUB1B	budding uninhibited by benzimidazoles 1 homolog beta (yeast)	11.0
46	SLC2A1	solute carrier family 2 (facilitated glucose transporter), member 1	11.0
47	ATM	ataxia telangiectasia mutated	11.0
48	F8	coagulation factor VIII, procoagulant component	11.0
49	VPS13B	vacuolar protein sorting 13 homolog B (yeast)	11.0
50	COHEN2	Cohen syndrome QTL 2	10.9	Publications

Pathways related to microcephaly according to GeneDecks:

(show all 25)

id	Pathway	Score	Top Affiliating Genes
1	Cell cycle20	INF	, ORC6, ORC1, ORC4, , CDC6
2	Muscular Dystrophies and Dystrophin-Glycoprotein Complex36	INF	LAMA2, DAG1, ,
3	DNA Damage3	INF	MCPH1, ERCC3, , PNKP, NHEJ1, MRE11A
4	Pathways in cancer20	INF	, SLC2A1, SHH, , PTCH1, AKT3
5	Selected targets of Oct-3/410	INF	TCF4, EOMES, , GJA1, , PAX6
6	Association of licensing factors with the pre-replicative complex38	10.8	ORC1, ORC4, CDC6, CDT1
7	Loss of Nlp from mitotic centrosomes38	10.6	TUBA1A, CDK5RAP2, CEP57, CENPJ, CEP152, CEP135
8	Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks38	10.4	NBN, RAD50, MRE11A
9	Non-homologous end-joining20	10.4	NHEJ1, DCLRE1C, MRE11A, XRCC4, LIG4, RAD50
10	DNA damage_Role of Brca1 and Brca2 in DNA repair41	10.3	BRCA1, RAD50, ATR, ATM, MRE11A, NBN
11	Fanconis Anaemia Pathway36	10.3	MRE11A, ATM, ATR, RAD50, BRCA1
12	DNA damage Role of Brca1 and Brca2 in DNA repair10	10.2	MRE11A, ATM, ATR, RAD50, BRCA1, NBN
13	Nucleotide excision repair20	10.2	ERCC6, ERCC4, ERCC8, ERCC5, ERCC3, ERCC2
14	DNA damage_DNA-damage-induced responses41	10.2	ATM, ATR, CHEK1, BRCA1
15	DNA damage DNA-damage-induced responses10	10.1	ATM, ATR, CHEK1, BRCA1
16	DNA damage_NHEJ mechanisms of DSBs repair41	10.1	BRCA1, RAD50, LIG4, XRCC4, MRE11A, PNKP
17	DNA damage NHEJ mechanisms of DSBs repair10	10.1	DCLRE1C, NBN, BRCA1, RAD50, LIG4, XRCC4
18	Cell Cycle / Checkpoint Control3	10.1	CDT1, CDC6, MCPH1, ERCC3, PNKP, ORC1
19	Chks in Checkpoint Regulation36	9.7	RAD50, CHEK1, ATR, ATM, MRE11A, BRCA1
20	DNA damage ATM/ATR regulation of G1/S checkpoint10	9.6	NFKB1, ATM, ATR, CHEK1, BRCA1, NBN
21	DNA damage_ATM/ATR regulation of G1/S checkpoint41	9.6	NFKB1, ATM, ATR, CHEK1, BRCA1, NBN
22	DNA Repair Mechanisms36	9.0	BRCA1, PNKP, TREX1, ERCC6, ERCC4, ERCC5
23	Transcription P53 signaling pathway10	INF	, NFKB1, ERCC3, ERCC2, ATM, ATR
24	Transcription_P53 signaling pathway41	INF	, NFKB1, ERCC3, ERCC2, ATM, ATR
25	BRCA1 Pathway36	INF	, , MRE11A, ATM, ATR, CHEK1

Compounds related to microcephaly according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	alanine32	INF	CNTN2, DYRK1A, DLD, , EDN3, EDNRB
2	serine32	INF	EDN3, PHGDH, , DLD, DYRK1A, GJA1
3	etoposide32 42 9 9	13.2	DCLRE1C, GJA1, CDC6, ATM, ATR, CHEK1
4	hydroxyurea32 9 9	11.9	ATR, CHEK1, RAD50, MYCN, BRCA1, NBN
5	adp32 18	10.5	ALDH18A1, CASK, GLYCTK, AKT3, DYRK1A, PNKP
6	Adenosine triphosphate9 18 9	11.0	FGFR3, ALDH18A1, CASK, GLYCTK, AKT3, DYRK1A
7	atp32	INF	EDN3, PNKP, , ERCC6, ERCC5, EIF2AK3
8	mononucleotide32	INF	TCF4, MRE11A, RAD50, NBN,
9	camptothecin32 42 9 9	INF	, MRE11A, ATM, ATR, CHEK1, RAD50

Cellular components related to microcephaly according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:005634	INF	ERCC2, , , , PNKP, COG5
2	microtubule	GO:005874	INF	, , TUBA1A, CDK5RAP2, CEP57, CEP170
3	ribonuclease H2 complex	GO:032299	10.7	RNASEH2B, RNASEH2A, RNASEH2C
4	origin recognition complex	GO:000808	10.5	ORC6, ORC1, ORC4
5	Mre11 complex	GO:030870	10.3	MRE11A, RAD50, NBN
6	chromosome, telomeric region	GO:000781	10.2	CHEK1, ATM, MRE11A, ERCC4, DCLRE1B
7	nonhomologous end joining complex	GO:070419	10.1	XRCC4, LIG4, NHEJ1
8	centriole	GO:005814	9.4	CEP170, CENPJ, CEP135, SASS6, PCNT, CNTLN
9	centrosome	GO:005813	INF	CENPJ, CEP170, CEP57, CDK5RAP2, ,
10	nucleolus	GO:005730	INF	TSEN54, RNASEH2B, NFKB1, PHF6, COG5, PNKP
11	gamma-tubulin ring complex	GO:008274	INF	, MZT2B, MZT2A, BRCA1
12	nucleoplasm	GO:005654	INF	, , NR2E1, DAG1, DDX11, DYRK1A
13	spindle pole	GO:000922	INF	WDR62, DDX11, , ASPM, CDC6, CDK5RAP2
14	cytosol	GO:005829	INF	COG5, , , TUBA1A, GJA1, CASK

Biological processes related to microcephaly according to GeneDecks:

(show all 30)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of DNA binding	GO:043388	INF	IGF1, ERCC2, ,
2	negative regulation of transcription from RNA polymerase II promoter	GO:000122	INF	SHH, EDNRB, TWIST1, TGIF1, NSD1,
3	positive regulation of transcription from RNA polymerase II promoter	GO:045944	INF	SHH, NFKB1, , , EOMES, TWIST1
4	brain development	GO:007420	10.8	PTCH1, TBR1, PHGDH, EOMES, GPR56, FOXG1
5	negative regulation of neuron differentiation	GO:045665	10.8	SOX3, ASPM, CDK5RAP2, PAX6, NBN, CNTN2
6	DNA duplex unwinding	GO:032508	10.7	DDX11, MRE11A, ATRX, RAD50, NBN
7	RNA catabolic process	GO:006401	10.7	RNASET2, RNASEH2C, RNASEH2A, RNASEH2B
8	neural crest cell migration	GO:001755	10.6	GDNF, EDNRB, EDN3, SHH, ZEB2
9	nucleotide-excision repair, DNA damage removal	GO:000718	10.5	PNKP, ERCC4, ERCC5, ERCC3, ERCC2
10	double-strand break repair via nonhomologous end joining	GO:006303	10.5	NHEJ1, MRE11A, XRCC4, LIG4
11	telomere maintenance	GO:000723	10.5	DCLRE1C, DCLRE1B, DKC1, ERCC4, RAD50, NBN
12	nucleotide-excision repair, DNA incision	GO:033683	10.4	ERCC4, ERCC3, ERCC2
13	smoothened signaling pathway	GO:007224	10.4	NSDHL, STIL, SHH, PTCH1, PAX6
14	response to X-ray	GO:010165	10.3	ERCC6, ERCC8, XRCC4, LIG4
15	positive regulation of kinase activity	GO:033674	10.3	NBN, RAD50, MRE11A
16	transcription-coupled nucleotide-excision repair	GO:006283	10.3	ERCC6, ERCC4, ERCC8, ERCC5, ERCC3, ERCC2
17	response to UV	GO:009411	10.2	ERCC6, ERCC4, ERCC8, ERCC5, ERCC3
18	DNA replication	GO:006260	10.2	TREX1, RNASEH2A, ORC4, ORC1, ORC6, IGF1
19	neuron migration	GO:001764	10.1	TWIST1, GJA1, ARX, ASPM, MNX1, CDK5R2
20	double-strand break repair	GO:006302	10.1	DCLRE1C, MRE11A, ATM, XRCC4, LIG4, RAD50
21	UV protection	GO:009650	10.1	CAT, ERCC2, ERCC5, ERCC4
22	multicellular organism growth	GO:035264	9.8	STIL, DHCR7, ERCC5, ERCC2, IGF1, PCNT
23	response to DNA damage stimulus	GO:006974	9.3	ERCC8, MCM8, MRE11A, ATM, ATR, CHEK1
24	DNA repair	GO:006281	INF	, ERCC3, ERCC5, ERCC8, ERCC4, ERCC6
25	in utero embryonic development	GO:001701	INF	STIL, TWIST1, , ERCC2, GJA1, FOXC1
26	double-strand break repair via homologous recombination	GO:000724	INF	ERCC4, MRE11A, ATM, RAD50, BRCA1, NBN
27	positive regulation of transcription, DNA-dependent	GO:045893	INF	ERCC2, , , NFKB1, SHH, EOMES
28	G2/M transition of mitotic cell cycle	GO:000086	INF	DDX11, , TUBA1A, CDK5RAP2, CEP57, CENPJ
29	mitotic cell cycle	GO:000278	INF	CDC6, MCM8, TUBA1A, , DYRK1A, ORC4
30	cell cycle checkpoint	GO:000075	INF	ERCC2, ERCC3, DCLRE1B, ORC4, ORC1, ORC6

Molecular functions related to microcephaly according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	single-stranded DNA specific endodeoxyribonuclease activity	GO:000014	10.3	RAD50, MRE11A, DCLRE1C
2	ATP-dependent DNA helicase activity	GO:004003	10.2	DDX11, ERCC3, ERCC2, MRE11A, RAD50, NBN
3	DNA helicase activity	GO:003678	10.1	DDX11, ERCC6, ERCC8, ATRX
4	protein C-terminus binding	GO:008022	9.6	TCF4, ERCC6, ERCC4, ERCC3, ERCC2, MRE11A
5	ATP binding	GO:005524	INF	DDX11, DYRK1A, ERCC6, ERCC3, ERCC2, AKT3
6	protein N-terminus binding	GO:047485	INF	, ERCC6, ERCC4, ERCC5, ERCC3, ERCC2
7	DNA-dependent ATPase activity	GO:008094	INF	, DDX11, ERCC6, ERCC8, ERCC3, ERCC2
8	protein binding	GO:005515	INF	F8, DYRK1A, PTCH1, DLG3, DDX11, DAG1
9	DNA binding	GO:003677	INF	DDX11, TBX4, TBX2, TBR1, ERCC6, ERCC3
10	Tat protein binding	GO:030957	INF	, ,