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	lissencephaly

Disease ID	472
Disease	lissencephaly
Definition	A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Synonym	lissencephalia lissencephalies lissencephaly (disorder) lissencephaly [disease/finding] lissencephaly pachygyria pachygyria/lissencephaly
Orphanet	ORPHANET:48471
DOID	DOID:0050453
UMLS	C0266463
MeSH	D054082
SNOMED-CT	SNOMEDCT_US_2016_09_01:204036008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0037769 \| infantile spasms \| 2 C0026850 \| muscular dystrophies \| 2 C0025958 \| microcephaly \| 2 C0026850 \| muscular dystrophy \| 1 C0010308 \| congenital hypothyroidism \| 1 C0006111 \| brain disease \| 1 C0007789 \| cerebral palsy \| 1 C0008924 \| cleft lip \| 1 C0014544 \| epilepsy \| 1 C0020255 \| hydrocephalus \| 1 C0020676 \| hypothyroidism \| 1 C0699743 \| congenital muscular dystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) 170302 \| ARX \| UniProtKB-KW 55624 \| POMGNT1 \| UniProtKB-KW 79147 \| FKRP \| UniProtKB-KW 10329 \| TMEM5 \| UniProtKB-KW 5048 \| PAFAH1B1 \| CTD_human;UniProtKB-KW 729920 \| ISPD \| UniProtKB-KW 1641 \| DCX \| UniProtKB-KW 1605 \| DAG1 \| UniProtKB-KW 148789 \| B3GALNT2 \| UniProtKB-KW 1020 \| CDK5 \| UniProtKB-KW 10585 \| POMT1 \| UniProtKB-KW 29954 \| POMT2 \| UniProtKB-KW 54820 \| NDE1 \| UniProtKB-KW 5649 \| RELN \| UniProtKB-KW 2218 \| FKTN \| UniProtKB-KW 3912 \| LAMB1 \| UniProtKB-KW 2009 \| EML1 \| UniProtKB-KW 7846 \| TUBA1A \| UniProtKB-KW 160418 \| TMTC3 \| UniProtKB-KW 10300 \| KATNB1 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 7846 \| TUBA1A \| CIPHER 5048 \| PAFAH1B1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:105) 2182 \| ACSL4 \| 1.38 \| DISEASES 60 \| ACTB \| 1.417 \| DISEASES 71 \| ACTG1 \| 3.181 \| DISEASES 197 \| AHSG \| 1.274 \| DISEASES 323 \| APBB2 \| 2.246 \| DISEASES 10564 \| ARFGEF2 \| 2.866 \| DISEASES 25852 \| ARMC8 \| 3.327 \| DISEASES 170302 \| ARX \| 5.616 \| DISEASES 727857 \| BHLHA9 \| 2.559 \| DISEASES 23299 \| BICD2 \| 2.081 \| DISEASES 801 \| CALM1 \| 2.07 \| DISEASES 1020 \| CDK5 \| 3.691 \| DISEASES 55755 \| CDK5RAP2 \| 1.652 \| DISEASES 55835 \| CENPJ \| 1.422 \| DISEASES 80254 \| CEP63 \| 1.46 \| DISEASES 51142 \| CHCHD2 \| 2.827 \| DISEASES 8738 \| CRADD \| 2.022 \| DISEASES 100506627 \| DCDC5 \| 2.763 \| DISEASES 10540 \| DCTN2 \| 2.132 \| DISEASES 1641 \| DCX \| 6.736 \| DISEASES 27185 \| DISC1 \| 4.038 \| DISEASES 1741 \| DLG3 \| 1.314 \| DISEASES 1756 \| DMD \| 1.231 \| DISEASES 63950 \| DMRTA2 \| 4.059 \| DISEASES 285489 \| DOK7 \| 2.127 \| DISEASES 54344 \| DPM3 \| 2.414 \| DISEASES 1826 \| DSCAM \| 2.523 \| DISEASES 1778 \| DYNC1H1 \| 2.437 \| DISEASES 2018 \| EMX2 \| 3.96 \| DISEASES 2165 \| F13B \| 1.515 \| DISEASES 2245 \| FGD1 \| 1.332 \| DISEASES 79147 \| FKRP \| 4.767 \| DISEASES 2316 \| FLNA \| 3.859 \| DISEASES 2885 \| GRB2 \| 1.643 \| DISEASES 9146 \| HGS \| 1.042 \| DISEASES 9324 \| HMGN3 \| 2.602 \| DISEASES 9670 \| IPO13 \| 1.884 \| DISEASES 729920 \| ISPD \| 3.635 \| DISEASES 6453 \| ITSN1 \| 1.625 \| DISEASES 83700 \| JAM3 \| 1.283 \| DISEASES 10300 \| KATNB1 \| 3.482 \| DISEASES 3785 \| KCNQ2 \| 1.25 \| DISEASES 169522 \| KCNV2 \| 1.693 \| DISEASES 8242 \| KDM5C \| 1.215 \| DISEASES 547 \| KIF1A \| 1.251 \| DISEASES 3796 \| KIF2A \| 3.02 \| DISEASES 3798 \| KIF5A \| 2.75 \| DISEASES 3831 \| KLC1 \| 1.273 \| DISEASES 11275 \| KLHL2 \| 2.336 \| DISEASES 284217 \| LAMA1 \| 1.544 \| DISEASES 3908 \| LAMA2 \| 3.257 \| DISEASES 9211 \| LGI1 \| 1.227 \| DISEASES 84823 \| LMNB2 \| 2.573 \| DISEASES 4004 \| LMO1 \| 1.345 \| DISEASES 9209 \| LRRFIP2 \| 2.733 \| DISEASES 22919 \| MAPRE1 \| 2.972 \| DISEASES 55777 \| MBD5 \| 1.013 \| DISEASES 79648 \| MCPH1 \| 2.053 \| DISEASES 25834 \| MGAT4C \| 3.339 \| DISEASES 57496 \| MKL2 \| 1.847 \| DISEASES 4289 \| MKLN1 \| 4.394 \| DISEASES 64223 \| MLST8 \| 1.199 \| DISEASES 4509 \| MT-ATP8 \| 1.364 \| DISEASES 23040 \| MYT1L \| 1.865 \| DISEASES 54820 \| NDE1 \| 6.452 \| DISEASES 81565 \| NDEL1 \| 6.153 \| DISEASES 91624 \| NEXN \| 1.543 \| DISEASES 23114 \| NFASC \| 2.226 \| DISEASES 58484 \| NLRC4 \| 2.06 \| DISEASES 9221 \| NOLC1 \| 2.164 \| DISEASES 23386 \| NUDCD3 \| 3.151 \| DISEASES 4983 \| OPHN1 \| 1.512 \| DISEASES 5048 \| PAFAH1B1 \| 8.534 \| DISEASES 5049 \| PAFAH1B2 \| 3.391 \| DISEASES 5080 \| PAX6 \| 1.716 \| DISEASES 27328 \| PCDH11X \| 1.482 \| DISEASES 5422 \| POLA1 \| 1.438 \| DISEASES 55624 \| POMGNT1 \| 5.467 \| DISEASES 10585 \| POMT1 \| 5.226 \| DISEASES 728378 \| POTEF \| 2.77 \| DISEASES 5454 \| POU3F2 \| 1.093 \| DISEASES 22930 \| RAB3GAP1 \| 1.457 \| DISEASES 5649 \| RELN \| 5.995 \| DISEASES 387 \| RHOA \| 1.818 \| DISEASES 6656 \| SOX1 \| 1.012 \| DISEASES 221178 \| SPATA13 \| 3.174 \| DISEASES 27286 \| SRPX2 \| 4.246 \| DISEASES 6491 \| STIL \| 1.379 \| DISEASES 6812 \| STXBP1 \| 1.947 \| DISEASES 23353 \| SUN1 \| 1.898 \| DISEASES 6902 \| TBCA \| 1.703 \| DISEASES 10716 \| TBR1 \| 1.497 \| DISEASES 10376 \| TUBA1B \| 1.639 \| DISEASES 113457 \| TUBA3D \| 6.728 \| DISEASES 51807 \| TUBA8 \| 4.135 \| DISEASES 203068 \| TUBB \| 3.072 \| DISEASES 7280 \| TUBB2A \| 2.36 \| DISEASES 10381 \| TUBB3 \| 3.092 \| DISEASES 286753 \| TUSC5 \| 2.182 \| DISEASES 56893 \| UBQLN4 \| 2.861 \| DISEASES 7436 \| VLDLR \| 4.752 \| DISEASES 284403 \| WDR62 \| 3.307 \| DISEASES 7479 \| WNT8B \| 2.007 \| DISEASES 55906 \| ZC4H2 \| 3.789 \| DISEASES 7546 \| ZIC2 \| 2.109 \| DISEASES
Locus	(Waiting for update.)

Disease ID	472
Disease	lissencephaly
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:21) HP:0001321 \| Small cerebellum \| 16 HP:0000062 \| Ambiguous external genitalia \| 7 HP:0002282 \| Heterotopias \| 5 HP:0000252 \| Small head circumference \| 4 HP:0000238 \| Nonsyndromal hydrocephalus \| 3 HP:0002119 \| Ventricular dilatation \| 2 HP:0001274 \| Absent corpus callosum \| 2 HP:0012469 \| Infantile spasms \| 2 HP:0001302 \| Cerebral pachygyria \| 1 HP:0001250 \| Seizures \| 1 HP:0003741 \| Muscular dystrophy, congenital \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0011451 \| Microcephaly present at birth \| 1 HP:0002126 \| Polymicrogyria \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0030048 \| Colpocephaly \| 1 HP:0001289 \| Confusion \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0000851 \| Congenital hypothyroidism \| 1 HP:0001339 \| Lissencephaly \| 1 HP:0003560 \| Muscular dystrophy \| 1

Disease ID	472
Disease	lissencephaly
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1963101 \| encephalopathy C0431399 \| joubert syndrome C0037769 \| infantile spasms C0036572 \| seizures C0014544 \| epilepsy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0037769 \| infantile spasms \| 2 C0014544 \| epilepsy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	472
Disease	lissencephaly
Case	(Waiting for update.)

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