eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| anencephaly | ||||
| Disease ID | 500 |
|---|---|
| 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 | |
| ICD10 | |
| UMLS | C0002902 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:79) 2 | A2M | 2.041 | DISEASES 174 | AFP | 5.982 | DISEASES 257 | ALX3 | 2.286 | DISEASES 347 | APOD | 1.265 | DISEASES 170302 | ARX | 1.644 | DISEASES 54829 | ASPN | 1.358 | DISEASES 80114 | BICC1 | 2.277 | DISEASES 875 | CBS | 1.225 | DISEASES 1046 | CDX4 | 2.603 | DISEASES 55165 | CEP55 | 2.13 | DISEASES 10370 | CITED2 | 1.574 | DISEASES 1188 | CLCNKB | 1.337 | DISEASES 1282 | COL4A1 | 1.244 | DISEASES 1312 | COMT | 1.085 | DISEASES 1443 | CSH2 | 2.694 | DISEASES 1551 | CYP3A7 | 1.974 | DISEASES 51339 | DACT1 | 2.128 | DISEASES 10301 | DLEU1 | 2.147 | DISEASES 1759 | DNM1 | 1.374 | DISEASES 285489 | DOK7 | 3.584 | DISEASES 29940 | DSE | 1.392 | DISEASES 1837 | DTNA | 1.817 | DISEASES 23741 | EID1 | 1.938 | DISEASES 2045 | EPHA7 | 1.771 | DISEASES 2116 | ETV2 | 2.806 | DISEASES 2138 | EYA1 | 1.709 | DISEASES 2187 | FANCB | 1.632 | DISEASES 2205 | FCER1A | 1.435 | DISEASES 2253 | FGF8 | 1.959 | DISEASES 2316 | FLNA | 1.196 | DISEASES 8323 | FZD6 | 1.943 | DISEASES 2731 | GLDC | 1.833 | DISEASES 2804 | GOLGB1 | 1.334 | DISEASES 3052 | HCCS | 1.426 | DISEASES 55733 | HHAT | 1.466 | DISEASES 219844 | HYLS1 | 1.404 | DISEASES 51098 | IFT52 | 3.202 | DISEASES 3720 | JARID2 | 2.139 | DISEASES 3758 | KCNJ1 | 1.147 | DISEASES 10945 | KDELR1 | 2.425 | DISEASES 54900 | LAX1 | 1.885 | DISEASES 3980 | LIG3 | 1.88 | DISEASES 4004 | LMO1 | 1.955 | DISEASES 4082 | MARCKS | 1.348 | DISEASES 65108 | MARCKSL1 | 2.572 | DISEASES 4194 | MDM4 | 1.152 | DISEASES 4522 | MTHFD1 | 2.451 | DISEASES 4524 | MTHFR | 2.932 | DISEASES 4674 | NAP1L2 | 3.492 | DISEASES 54820 | NDE1 | 1.841 | DISEASES 81565 | NDEL1 | 1.832 | DISEASES 9241 | NOG | 1.678 | DISEASES 27031 | NPHP3 | 1.982 | DISEASES 4976 | OPA1 | 1.386 | DISEASES 5048 | PAFAH1B1 | 1.216 | DISEASES 56288 | PARD3 | 2.726 | DISEASES 5075 | PAX1 | 2.882 | DISEASES 5077 | PAX3 | 2.085 | DISEASES 5110 | PCMT1 | 3.533 | DISEASES 5230 | PGK1 | 1.133 | DISEASES 144165 | PRICKLE1 | 2.226 | DISEASES 5567 | PRKACB | 2.389 | DISEASES 5730 | PTGDS | 2.627 | DISEASES 5802 | PTPRS | 2.164 | DISEASES 5817 | PVR | 1.147 | DISEASES 6045 | RNF2 | 1.803 | DISEASES 23513 | SCRIB | 2.251 | DISEASES 866 | SERPINA6 | 1.179 | DISEASES 113235 | SLC46A1 | 1.791 | DISEASES 6594 | SMARCA1 | 2.992 | DISEASES 6710 | SPTB | 1.555 | DISEASES 6812 | STXBP1 | 1.465 | DISEASES 51684 | SUFU | 1.374 | DISEASES 7020 | TFAP2A | 1.204 | DISEASES 113457 | TUBA3D | 3.488 | DISEASES 286753 | TUSC5 | 1.187 | DISEASES 57216 | VANGL2 | 2.545 | DISEASES 7436 | VLDLR | 1.114 | DISEASES 7546 | ZIC2 | 1.673 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 500 |
|---|---|
| Disease | anencephaly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0045005 | Neural tube defect | 2 HP:0002414 | Spina bifida | 2 HP:0030769 | Exencephaly | 2 HP:0000078 | Genital abnormalities | 1 HP:0000835 | Hypoplastic adrenal glands | 1 HP:0000089 | Small kidneys | 1 |
| Disease ID | 500 |
|---|---|
| Disease | anencephaly |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002414 | Spina bifida | MP:0003054 | spina bifida | common congenital midline defect of fusion of the vertebral arch |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002323 | Anencephaly | MP:0013349 | small Rathke's pouch | reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| HP:0002414 | Spina bifida | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| Disease ID | 500 |
|---|---|
| Disease | anencephaly |
| Case | (Waiting for update.) |