PedAM

Pediatric Disease Annotations & Medicines


	anencephaly

Disease ID	219
Disease	anencephaly
Definition	A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
Synonym	absence of brain congen absence of brain, congenital anencephalia anencephalias anencephalic monster anencephalus anencephalus (disorder) anencephalus et al nos anencephalus nos anencephalus nos (disorder) anencephaly (disorder) anencephaly [disease/finding] brain aplasia brain congenital absence congen absence of brain congenital absence of brain
OMIM	OMIM:206500
ICD10	ICD10CM:Q00.0
UMLS	C0002902
MeSH	D000757
SNOMED-CT	SNOMEDCT_US_2016_09_01:89369001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0080178 \| spina bifida \| 3 C0345335 \| multicystic kidney \| 1 C0022679 \| cystic kidney \| 1 C0152096 \| trisomy 18 \| 1 C0022679 \| cystic kidneys \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) MTHFR \| 4524 \| ORPHANET THAS \| 7055 \| CTD_human VANGL2 \| 57216 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4524 \| MTHFR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:164) 10301 \| DLEU1 \| DISEASES 51009 \| DERL2 \| DISEASES 54187 \| NANS \| DISEASES 266 \| AMELY \| DISEASES 6948 \| TCN2 \| DISEASES 3956 \| LGALS1 \| DISEASES 5020 \| OXT \| DISEASES 3199 \| HOXA2 \| DISEASES 2218 \| FKTN \| DISEASES 5216 \| PFN1 \| DISEASES 2648 \| KAT2A \| DISEASES 8456 \| FOXN1 \| DISEASES 2026 \| ENO2 \| DISEASES 5754 \| PTK7 \| DISEASES 2691 \| GHRH \| DISEASES 55640 \| FLVCR2 \| DISEASES 4488 \| MSX2 \| DISEASES 2703 \| GJA8 \| DISEASES 6495 \| SIX1 \| DISEASES 7277 \| TUBA4A \| DISEASES 3911 \| LAMA5 \| DISEASES 23135 \| KDM6B \| DISEASES 2922 \| GRP \| DISEASES 2346 \| FOLH1 \| DISEASES 5156 \| PDGFRA \| DISEASES 4005 \| LMO2 \| DISEASES 6496 \| SIX3 \| DISEASES 23314 \| SATB2 \| DISEASES 4001 \| LMNB1 \| DISEASES 27443 \| CECR2 \| DISEASES 9620 \| CELSR1 \| DISEASES 8850 \| KAT2B \| DISEASES 10000 \| AKT3 \| DISEASES 590 \| BCHE \| DISEASES 4552 \| MTRR \| DISEASES 5443 \| POMC \| DISEASES 80144 \| FRAS1 \| DISEASES 50511 \| SYCP3 \| DISEASES 8396 \| PIP4K2B \| DISEASES 10637 \| LEFTY1 \| DISEASES 635 \| BHMT \| DISEASES 2041 \| EPHA1 \| DISEASES 341640 \| FREM2 \| DISEASES 55521 \| TRIM36 \| DISEASES 2697 \| GJA1 \| DISEASES 7545 \| ZIC1 \| DISEASES 8467 \| SMARCA5 \| DISEASES 3192 \| HNRNPU \| DISEASES 4838 \| NODAL \| DISEASES 6750 \| SST \| DISEASES 57822 \| GRHL3 \| DISEASES 2207 \| FCER1G \| DISEASES 9965 \| FGF19 \| DISEASES 6051 \| RNPEP \| DISEASES 57619 \| SHROOM3 \| DISEASES 327 \| APEH \| DISEASES 6862 \| T \| DISEASES 6469 \| SHH \| DISEASES 2350 \| FOLR2 \| DISEASES 9317 \| PTER \| DISEASES 717 \| C2 \| DISEASES 26585 \| GREM1 \| DISEASES 7846 \| TUBA1A \| DISEASES 2357 \| FPR1 \| DISEASES 140738 \| TMEM37 \| DISEASES 43 \| ACHE \| DISEASES 54360 \| CYTL1 \| DISEASES 646 \| BNC1 \| DISEASES 1501 \| CTNND2 \| DISEASES 2348 \| FOLR1 \| DISEASES 6573 \| SLC19A1 \| DISEASES 8463 \| TEAD2 \| DISEASES 81839 \| VANGL1 \| DISEASES 55885 \| LMO3 \| DISEASES 80199 \| FUZ \| DISEASES 57101 \| ANO2 \| DISEASES 767 \| CA8 \| DISEASES 8092 \| ALX1 \| DISEASES 1442 \| CSH1 \| DISEASES 23512 \| SUZ12 \| DISEASES 1960 \| EGR3 \| DISEASES 8851 \| CDK5R1 \| DISEASES 6470 \| SHMT1 \| DISEASES 2653 \| GCSH \| DISEASES 137814 \| NKX2-6 \| DISEASES 2193 \| FARSA \| DISEASES 2253 \| FGF8 \| DISEASES 2 \| A2M \| DISEASES 113457 \| TUBA3D \| DISEASES 3052 \| HCCS \| DISEASES 2187 \| FANCB \| DISEASES 9241 \| NOG \| DISEASES 10945 \| KDELR1 \| DISEASES 286753 \| TUSC5 \| DISEASES 29940 \| DSE \| DISEASES 81565 \| NDEL1 \| DISEASES 51339 \| DACT1 \| DISEASES 1551 \| CYP3A7 \| DISEASES 4004 \| LMO1 \| DISEASES 27031 \| NPHP3 \| DISEASES 3720 \| JARID2 \| DISEASES 2804 \| GOLGB1 \| DISEASES 2138 \| EYA1 \| DISEASES 866 \| SERPINA6 \| DISEASES 285489 \| DOK7 \| DISEASES 875 \| CBS \| DISEASES 144165 \| PRICKLE1 \| DISEASES 347 \| APOD \| DISEASES 54820 \| NDE1 \| DISEASES 219844 \| HYLS1 \| DISEASES 23513 \| SCRIB \| DISEASES 5802 \| PTPRS \| DISEASES 8323 \| FZD6 \| DISEASES 1312 \| COMT \| DISEASES 4976 \| OPA1 \| DISEASES 4194 \| MDM4 \| DISEASES 5110 \| PCMT1 \| DISEASES 6045 \| RNF2 \| DISEASES 10370 \| CITED2 \| DISEASES 57216 \| VANGL2 \| DISEASES 2205 \| FCER1A \| DISEASES 4082 \| MARCKS \| DISEASES 2045 \| EPHA7 \| DISEASES 257 \| ALX3 \| DISEASES 2316 \| FLNA \| DISEASES 51684 \| SUFU \| DISEASES 5567 \| PRKACB \| DISEASES 6594 \| SMARCA1 \| DISEASES 55165 \| CEP55 \| DISEASES 5730 \| PTGDS \| DISEASES 1759 \| DNM1 \| DISEASES 51098 \| IFT52 \| DISEASES 6812 \| STXBP1 \| DISEASES 5230 \| PGK1 \| DISEASES 1046 \| CDX4 \| DISEASES 4674 \| NAP1L2 \| DISEASES 65108 \| MARCKSL1 \| DISEASES 80114 \| BICC1 \| DISEASES 56288 \| PARD3 \| DISEASES 54829 \| ASPN \| DISEASES 1188 \| CLCNKB \| DISEASES 1282 \| COL4A1 \| DISEASES 7546 \| ZIC2 \| DISEASES 4524 \| MTHFR \| DISEASES 3980 \| LIG3 \| DISEASES 170302 \| ARX \| DISEASES 7020 \| TFAP2A \| DISEASES 2731 \| GLDC \| DISEASES 7436 \| VLDLR \| DISEASES 6710 \| SPTB \| DISEASES 5077 \| PAX3 \| DISEASES 3758 \| KCNJ1 \| DISEASES 1443 \| CSH2 \| DISEASES 174 \| AFP \| DISEASES 5048 \| PAFAH1B1 \| DISEASES 5075 \| PAX1 \| DISEASES 1837 \| DTNA \| DISEASES 2116 \| ETV2 \| DISEASES 113235 \| SLC46A1 \| DISEASES 5817 \| PVR \| DISEASES 54900 \| LAX1 \| DISEASES 23741 \| EID1 \| DISEASES 55733 \| HHAT \| DISEASES 4522 \| MTHFD1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	219
Disease	anencephaly
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0002323 \| Anencephaly HP:0002414 \| Spina bifida
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0002414 \| Spina bifida \| 3 HP:0045005 \| Neural tube defect \| 2 HP:0030769 \| Exencephaly \| 2 HP:0000089 \| Small kidneys \| 1 HP:0000003 \| Multicystic kidney dysplasia \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0000078 \| Genital abnormalities \| 1

Disease ID	219
Disease	anencephaly
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0008207	Primary adrenal insufficiency	MP:0008295	abnormal adrenal gland zona reticularis morphology;HP:0002414	Spina bifida

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002323	Anencephaly	MP:0010465	aberrant origin of the right subclavian artery;HP:0008207	Primary adrenal insufficiency

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0002902	azacitidine	D001374	320-67-2	anencephaly	MESH:D000757	marker/mechanism	11875660
C0002902	folic acid	D005492	59-30-3	anencephaly	MESH:D000757	therapeutic	12397633
C0002902	methadone	D008691	76-99-3	anencephaly	MESH:D000757	marker/mechanism	4586767
C0002902	thalidomide	D013792	50-35-1	anencephaly	MESH:D000757	marker/mechanism	21505091

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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