PedAM

Pediatric Disease Annotations & Medicines


	syringomyelia

Disease ID	748
Disease	syringomyelia
Definition	Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)
Synonym	myelosyringoses myelosyringosis syringomyelia (disorder) syringomyelia [disease/finding] syringomyelia-anaesthesia syndrome syringomyelia-anesthesia syndrome syringomyelias syringomyelus
Orphanet	ORPHANET:3280
DOID	DOID:327
UMLS	C0039144
MeSH	D013595
SNOMED-CT	SNOMEDCT_US_2016_09_01:111496009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:30) C0036439 \| scoliosis \| 13 C0003708 \| arachnoiditis \| 6 C0078981 \| arachnoid cyst \| 4 C0020255 \| hydrocephalus \| 3 C0078981 \| arachnoid cysts \| 3 C0023798 \| lipoma \| 2 C0037928 \| myelopathy \| 2 C0011649 \| dermoid \| 2 C0038019 \| spondylosis \| 2 C0278876 \| adult medulloblastoma \| 1 C0009451 \| communicating hydrocephalus \| 1 C0023798 \| lipomas \| 1 C0302592 \| cervical ca \| 1 C0271742 \| allgrove syndrome \| 1 C0175704 \| leopard syndrome \| 1 C0025149 \| medulloblastoma \| 1 C0029401 \| paget disease \| 1 C0080178 \| spinal dysraphism \| 1 C0018378 \| guillain-barre syndrome \| 1 C0023882 \| spastic diplegia \| 1 C0010964 \| dandy-walker malformation \| 1 C0010674 \| cystic fibrosis \| 1 C0039128 \| syphilis \| 1 C0085113 \| neurofibromatosis \| 1 C0022408 \| arthropathies \| 1 C0025289 \| meningitis \| 1 C0003892 \| charcot arthropathy \| 1 C0034372 \| quadriplegia \| 1 C0023343 \| leprosy \| 1 C0036440 \| idiopathic scoliosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:97) 920 \| CD4 \| DISEASES 27248 \| ERLEC1 \| DISEASES 1947 \| EFNB1 \| DISEASES 10857 \| PGRMC1 \| DISEASES 343 \| AQP8 \| DISEASES 366 \| AQP9 \| DISEASES 7392 \| USF2 \| DISEASES 708 \| C1QBP \| DISEASES 1277 \| COL1A1 \| DISEASES 2690 \| GHR \| DISEASES 63923 \| TNN \| DISEASES 56269 \| IRGC \| DISEASES 6299 \| SALL1 \| DISEASES 3110 \| MNX1 \| DISEASES 57498 \| KIDINS220 \| DISEASES 23417 \| MLYCD \| DISEASES 3931 \| LCAT \| DISEASES 3299 \| HSF4 \| DISEASES 10874 \| NMU \| DISEASES 57679 \| ALS2 \| DISEASES 10723 \| SLC12A7 \| DISEASES 5373 \| PMM2 \| DISEASES 2911 \| GRM1 \| DISEASES 925 \| CD8A \| DISEASES 392255 \| GDF6 \| DISEASES 55114 \| ARHGAP17 \| DISEASES 114757 \| CYGB \| DISEASES 362 \| AQP5 \| DISEASES 84315 \| MON1A \| DISEASES 168667 \| BMPER \| DISEASES 364 \| AQP7 \| DISEASES 171558 \| PTCRA \| DISEASES 1473 \| CST5 \| DISEASES 27243 \| CHMP2A \| DISEASES 358 \| AQP1 \| DISEASES 4691 \| NCL \| DISEASES 27319 \| BHLHE22 \| DISEASES 80153 \| EDC3 \| DISEASES 10938 \| EHD1 \| DISEASES 6863 \| TAC1 \| DISEASES 6906 \| SERPINA7 \| DISEASES 6938 \| TCF12 \| DISEASES 9573 \| GDF3 \| DISEASES 668 \| FOXL2 \| DISEASES 9138 \| ARHGEF1 \| DISEASES 57142 \| RTN4 \| DISEASES 2246 \| FGF1 \| DISEASES 4882 \| NPR2 \| DISEASES 4763 \| NF1 \| DISEASES 404552 \| SCGB1D4 \| DISEASES 617 \| BCS1L \| DISEASES 23607 \| CD2AP \| DISEASES 6539 \| SLC6A12 \| DISEASES 3164 \| NR4A1 \| DISEASES 11169 \| WDHD1 \| DISEASES 56955 \| MEPE \| DISEASES 56259 \| CTNNBL1 \| DISEASES 9851 \| KIAA0753 \| DISEASES 3766 \| KCNJ10 \| DISEASES 262 \| AMD1 \| DISEASES 26036 \| ZNF451 \| DISEASES 11253 \| MAN1B1 \| DISEASES 29991 \| OBP2A \| DISEASES 3434 \| IFIT1 \| DISEASES 6491 \| STIL \| DISEASES 5728 \| PTEN \| DISEASES 203 \| AK1 \| DISEASES 7321 \| UBE2D1 \| DISEASES 1896 \| EDA \| DISEASES 19 \| ABCA1 \| DISEASES 54829 \| ASPN \| DISEASES 81562 \| LMAN2L \| DISEASES 51360 \| MBTPS2 \| DISEASES 26278 \| SACS \| DISEASES 4155 \| MBP \| DISEASES 361 \| AQP4 \| DISEASES 3681 \| ITGAD \| DISEASES 9244 \| CRLF1 \| DISEASES 6152 \| RPL24 \| DISEASES 6164 \| RPL34 \| DISEASES 95 \| ACY1 \| DISEASES 57703 \| CWC22 \| DISEASES 3481 \| IGF2 \| DISEASES 55636 \| CHD7 \| DISEASES 5817 \| PVR \| DISEASES 54900 \| LAX1 \| DISEASES 339487 \| ZBTB8OS \| DISEASES 4700 \| NDUFA6 \| DISEASES 6949 \| TCOF1 \| DISEASES 346007 \| EYS \| DISEASES 51366 \| UBR5 \| DISEASES 2053 \| EPHX2 \| DISEASES 3347 \| HTN3 \| DISEASES 9 \| NAT1 \| DISEASES 4782 \| NFIC \| DISEASES 102723508 \| KANTR \| DISEASES 79104 \| MEG8 \| DISEASES
Locus	(Waiting for update.)

Disease ID	748
Disease	syringomyelia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:36) HP:0002308 \| Chiari malformation \| 22 HP:0002650 \| Scoliosis \| 13 HP:0007099 \| Arnold Chiari type I malformation \| 13 HP:0100702 \| Arachnoid cyst \| 4 HP:0000238 \| Nonsyndromal hydrocephalus \| 3 HP:0012032 \| Lipoma \| 2 HP:0002144 \| Occult spinal dysraphism \| 2 HP:0002664 \| Neoplasia \| 2 HP:0002196 \| Myelopathy \| 2 HP:0008480 \| Neck arthritis \| 2 HP:0001067 \| Neurofibromas \| 1 HP:0001334 \| Communicating hydrocephalus \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0009713 \| Spinal hemangioblastoma \| 1 HP:0002888 \| Ependymoma \| 1 HP:0030709 \| Myelocystocele \| 1 HP:0001264 \| Spastic diplegia \| 1 HP:0012033 \| Sacral lipoma \| 1 HP:0003414 \| Atlantoaxial subluxation \| 1 HP:0002025 \| Narrowing of anal opening \| 1 HP:0008845 \| Mesomelic dwarfism \| 1 HP:0002821 \| Charcot arthropathy \| 1 HP:0002445 \| Paralysis of all four limbs \| 1 HP:0007291 \| Posterior fossa cyst \| 1 HP:0001360 \| Single brain ventricle \| 1 HP:0012533 \| Allodynia \| 1 HP:0010301 \| Spinal dysraphism \| 1 HP:0003401 \| Paresthesia \| 1 HP:0001287 \| Meningitis \| 1 HP:0100699 \| Scarring \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0000975 \| Increased sweating \| 1 HP:0002273 \| Tetraparesis \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0006870 \| Lobar holoprosencephaly \| 1

Disease ID	748
Disease	syringomyelia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:72) C2632116 \| stenosis C2598155 \| pain C1997689 \| elbow arthropathy C1996993 \| arthropathy of foot C1860389 \| spinal cord hemangioblastoma C1839611 \| n syndrome C1550639 \| fistula C1417325 \| multiple sclerosis C1414203 \| dandy-walker syndrome C1384671 \| melkersson-rosenthal syndrome C1384641 \| cervical spondylosis C1299624 \| postural tachycardia syndrome C1145670 \| respiratory failure C0796095 \| c syndrome C0752303 \| urological manifestations C0750929 \| type i chiari malformation C0750929 \| chiari malformation type i C0750929 \| arnold-chiari type i malformation C0741585 \| body pain C0700208 \| scoliosis C0679407 \| gastrointestinal dysfunction C0595995 \| idiopathic scoliosis C0520679 \| obstructive sleep apnoea C0520679 \| obstructive sleep apnea C0427086 \| involuntary movements C0426576 \| gastrointestinal symptoms C0423716 \| neuropathic pain C0409213 \| shoulder arthropathy C0393913 \| segmental hyperhidrosis C0391826 \| lhermitte-duclos disease C0347016 \| spinal cord metastasis C0345247 \| generalized intestinal dysmotility C0339223 \| neuroparalytic keratitis C0334533 \| arteriovenous malformation C0278134 \| sensory loss C0271568 \| growth hormone insensitivity syndrome C0263661 \| osteoarthropathy C0239377 \| painful arm C0234229 \| deep pain C0206734 \| hemangioblastoma C0206734 \| haemangioblastoma C0152027 \| sensory disturbances C0152027 \| sensory disorders C0078981 \| arachnoid cysts C0078981 \| arachnoid cyst C0041327 \| lung tuberculosis C0038994 \| gustatory sweating C0037930 \| spinal cord tumor C0037928 \| myelopathy C0037926 \| spinal cord compression C0035229 \| respiratory insufficiency C0032633 \| dyshidrosis C0030552 \| paresis C0029408 \| osteoarthrosis C0027066 \| myoclonus C0027051 \| myocardial infarction C0026838 \| spasticity C0026650 \| movement disorders C0025517 \| metabolism disorders C0024236 \| lymphoedema C0022408 \| diseases of the joints C0022408 \| arthropathy C0022408 \| arthropathies C0019270 \| herniation C0019270 \| hernia C0013604 \| oedema C0013595 \| eczema C0010964 \| dandy-walker malformation C0010964 \| dandy walker malformation C0007959 \| charcot-marie-tooth disease C0004153 \| atherosclerosis C0003892 \| neurogenic arthropathy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:14) C0036439 \| scoliosis \| 13 C0750929 \| chiari malformation type i \| 4 C0078981 \| arachnoid cyst \| 4 C0019270 \| herniation \| 3 C0158241 \| cervical spondylosis \| 2 C0009814 \| stenosis \| 2 C0037928 \| myelopathy \| 2 C0010964 \| dandy-walker malformation \| 1 C0423716 \| neuropathic pain \| 1 C0022408 \| arthropathies \| 1 C0750929 \| type i chiari malformation \| 1 C0391826 \| lhermitte-duclos disease \| 1 C0036440 \| idiopathic scoliosis \| 1 C0030552 \| paresis \| 1

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:0)
(Waiting for update.)

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

Chemical(Total Drugs:0)
(Waiting for update.)

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

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

Web
Analytics