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	miller-dieker lissencephaly syndrome

Disease ID	1767
Disease	miller-dieker lissencephaly syndrome
Definition	A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.
Synonym	chromosome 17p13.3 deletion syndrome lissencephaly syndrome lissencephaly syndrome, miller dieker lissencephaly syndrome, miller-dieker lissencephaly, miller dieker lissencephaly, miller-dieker mdls mds miller dieker lissencephaly syndrome miller dieker syndrome miller dieker syndrome (disorder) miller-dieker lissencephaly miller-dieker syndrome miller-dieker syndrome (disorder) miller-dieker syndrome (disorder) [ambiguous] syndrome, miller-dieker syndrome, miller-dieker lissencephaly
Orphanet	ORPHANET:531
OMIM	OMIM:614286 OMIM:247200
DOID	DOID:0060469
UMLS	C0265219
SNOMED-CT	SNOMEDCT_US_2016_09_01:253148005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 7531 \| YWHAE \| ORPHANET 5048 \| PAFAH1B1 \| ORPHANET;UNIPROT 3090 \| HIC1 \| ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:93) 65057 \| ACD \| 1.686 \| DISEASES 8038 \| ADAM12 \| 1.115 \| DISEASES 23394 \| ADNP \| 1.53 \| DISEASES 257 \| ALX3 \| 1.204 \| DISEASES 10564 \| ARFGEF2 \| 2.262 \| DISEASES 415 \| ARSE \| 1.101 \| DISEASES 170302 \| ARX \| 2.433 \| DISEASES 487 \| ATP2A1 \| 1.648 \| DISEASES 64919 \| BCL11B \| 1.456 \| DISEASES 144453 \| BEST3 \| 2.167 \| DISEASES 727857 \| BHLHA9 \| 3.869 \| DISEASES 765 \| CA6 \| 1.058 \| DISEASES 23125 \| CAMTA2 \| 3.539 \| DISEASES 825 \| CAPN3 \| 1.844 \| DISEASES 859 \| CAV3 \| 1.781 \| DISEASES 81669 \| CCNL2 \| 2.22 \| DISEASES 23607 \| CD2AP \| 1.817 \| DISEASES 916 \| CD3E \| 1.586 \| DISEASES 962 \| CD48 \| 1.227 \| DISEASES 1020 \| CDK5 \| 1.746 \| DISEASES 1120 \| CHKB \| 1.842 \| DISEASES 9075 \| CLDN2 \| 1.116 \| DISEASES 255631 \| COL24A1 \| 3.225 \| DISEASES 85301 \| COL27A1 \| 2.195 \| DISEASES 1291 \| COL6A1 \| 1.244 \| DISEASES 1499 \| CTNNB1 \| 1.003 \| DISEASES 1508 \| CTSB \| 1.283 \| DISEASES 1523 \| CUX1 \| 1.295 \| DISEASES 57703 \| CWC22 \| 1.237 \| DISEASES 1555 \| CYP2B6 \| 1.198 \| DISEASES 1557 \| CYP2C19 \| 1.256 \| DISEASES 1622 \| DBI \| 1.999 \| DISEASES 1641 \| DCX \| 2.393 \| DISEASES 7913 \| DEK \| 1.081 \| DISEASES 79947 \| DHDDS \| 1.697 \| DISEASES 27185 \| DISC1 \| 1.022 \| DISEASES 1756 \| DMD \| 2.553 \| DISEASES 1778 \| DYNC1H1 \| 1.833 \| DISEASES 8291 \| DYSF \| 2.681 \| DISEASES 2202 \| EFEMP1 \| 1.15 \| DISEASES 2018 \| EMX2 \| 1.839 \| DISEASES 5167 \| ENPP1 \| 1.817 \| DISEASES 26190 \| FBXW2 \| 4.87 \| DISEASES 2266 \| FGG \| 1.649 \| DISEASES 2316 \| FLNA \| 2.008 \| DISEASES 2804 \| GOLGB1 \| 1.255 \| DISEASES 10243 \| GPHN \| 1.394 \| DISEASES 2879 \| GPX4 \| 5.893 \| DISEASES 64344 \| HIF3A \| 1.602 \| DISEASES 60495 \| HPSE2 \| 1.126 \| DISEASES 11255 \| HRH3 \| 1.33 \| DISEASES 3476 \| IGBP1 \| 1.435 \| DISEASES 3679 \| ITGA7 \| 2.006 \| DISEASES 3776 \| KCNK2 \| 1.43 \| DISEASES 154288 \| KHDC3L \| 2.636 \| DISEASES 10656 \| KHDRBS3 \| 1.419 \| DISEASES 3996 \| LLGL1 \| 1.138 \| DISEASES 4168 \| MCF2 \| 1.27 \| DISEASES 79648 \| MCPH1 \| 1.448 \| DISEASES 4291 \| MLF1 \| 1.862 \| DISEASES 4300 \| MLLT3 \| 1.219 \| DISEASES 9 \| NAT1 \| 1.26 \| DISEASES 54820 \| NDE1 \| 2.842 \| DISEASES 81565 \| NDEL1 \| 3.24 \| DISEASES 4720 \| NDUFS2 \| 1.086 \| DISEASES 51199 \| NIN \| 1.504 \| DISEASES 55655 \| NLRP2 \| 2.053 \| DISEASES 126206 \| NLRP5 \| 2.5 \| DISEASES 199713 \| NLRP7 \| 1.896 \| DISEASES 4901 \| NRL \| 1.279 \| DISEASES 5048 \| PAFAH1B1 \| 6.865 \| DISEASES 5049 \| PAFAH1B2 \| 2.787 \| DISEASES 25859 \| PART1 \| 2.442 \| DISEASES 10846 \| PDE10A \| 1.264 \| DISEASES 4860 \| PNP \| 3.759 \| DISEASES 5710 \| PSMD4 \| 1.894 \| DISEASES 22930 \| RAB3GAP1 \| 1.81 \| DISEASES 5649 \| RELN \| 2.221 \| DISEASES 6050 \| RNH1 \| 1.06 \| DISEASES 6122 \| RPL3 \| 2.349 \| DISEASES 6444 \| SGCD \| 2.026 \| DISEASES 27286 \| SRPX2 \| 2.053 \| DISEASES 10716 \| TBR1 \| 1.939 \| DISEASES 7088 \| TLE1 \| 1.441 \| DISEASES 7156 \| TOP3A \| 1.093 \| DISEASES 113457 \| TUBA3D \| 2.819 \| DISEASES 286753 \| TUSC5 \| 2.932 \| DISEASES 7436 \| VLDLR \| 1.948 \| DISEASES 23230 \| VPS13A \| 1.383 \| DISEASES 11169 \| WDHD1 \| 1.755 \| DISEASES 23038 \| WDTC1 \| 2 \| DISEASES 346171 \| ZFP57 \| 2.107 \| DISEASES 7702 \| ZNF143 \| 1.901 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1767
Disease	miller-dieker lissencephaly syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1767
Disease	miller-dieker lissencephaly syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
17p13.3	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
PAFAH1B1	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs371246226	25311244	10569	SLU7	umls:C0265219	BeFree	We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).	0.000271442	2014	U2AF1	21	43094667	T	C,G
rs371769427	25311244	10569	SLU7	umls:C0265219	BeFree	We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).	0.000271442	2014	U2AF1	21	43104346	G	A,T
rs371769427	25311244	7307	U2AF1	umls:C0265219	BeFree	These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis.	0.000271442	2014	U2AF1	21	43104346	G	A,T

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	1767
Disease	miller-dieker lissencephaly syndrome
Case	(Waiting for update.)

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