PedAM

Pediatric Disease Annotations & Medicines


	achalasia

Disease ID	135
Disease	achalasia
Definition	A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus).
Synonym	achalasia & cardiospasm achalasia and cardiospasm achalasia cardia achalasia cardiae achalasia cardiospasm achalasia esophageal achalasia esophagus achalasia of cardia achalasia of cardia (disorder) achalasia of esophagus achalasia of esophagus (disorder) achalasia of oesophagus achalasia of the esophagus achalasia, esophageal achalasias achalasias, esophageal cardiospasm cardiospasm (disorder) cardiospasm, nos cardiospasms esophageal achalasia esophageal achalasia [disease/finding] esophageal achalasias esophagus achalasia hypertensive lower esophageal sphincter hypertensive lower oesophageal sphincter lack of reflex relaxation of lower esophageal sphincter lack of reflex relaxation of lower oesophageal sphincter megaoesophagus
DOID	DOID:9164
ICD10	ICD10CM:K22.0
UMLS	C0014848
MeSH	D004931
SNOMED-CT	SNOMEDCT_US_2016_09_01:45564002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:41) C0014859 \| esophageal cancer \| 7 C0001623 \| adrenal insufficiency \| 4 C1565489 \| renal insufficiency \| 4 C0007137 \| squamous cell carcinoma \| 3 C0025164 \| megaesophagus \| 3 C0152018 \| esophageal carcinoma \| 2 C0021053 \| immune disease \| 2 C0021843 \| intestinal obstruction \| 2 C0042769 \| viral infection \| 1 C0036421 \| systemic sclerosis \| 1 C0175702 \| williams-beuren syndrome \| 1 C1145670 \| respiratory failure \| 1 C0014867 \| esophageal varices \| 1 C0011847 \| diabetes \| 1 C0271742 \| allgrove syndrome \| 1 C0014848 \| esophageal achalasia \| 1 C0032290 \| aspiration pneumonia \| 1 C0345893 \| juvenile polyposis syndrome \| 1 C0032298 \| lipoid pneumonia \| 1 C0748540 \| limited cutaneous systemic sclerosis \| 1 C0345893 \| juvenile polyposis \| 1 C0162429 \| malnutrition \| 1 C0025362 \| mental retardation \| 1 C0009326 \| rheumatologic disorder \| 1 C0020538 \| hypertension \| 1 C0003125 \| anorexia nervosa \| 1 C0042345 \| varices \| 1 C0006625 \| cachexia \| 1 C0008350 \| cholelithiasis \| 1 C0085113 \| neurofibromatosis \| 1 C0239295 \| esophageal candidiasis \| 1 C0595978 \| idiopathic megacolon \| 1 C0014869 \| reflux esophagitis \| 1 C0042769 \| viral infections \| 1 C0006840 \| candidiasis \| 1 C0024623 \| gastric cancer \| 1 C0041234 \| chagas' disease \| 1 C0003864 \| arthritis \| 1 C0024110 \| lung abscess \| 1 C0014868 \| esophagitis \| 1 C0032285 \| pneumoniae \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) HLA-DQA1 \| 3117 \| CTD_human HLA-DQB1 \| 3119 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 4842 \| NOS1 \| infer 4846 \| NOS3 \| infer 149233 \| IL23R \| infer 26191 \| PTPN22 \| infer 7433 \| VIPR1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:91) 2273 \| FHL1 \| DISEASES 6343 \| SCT \| DISEASES 8086 \| AAAS \| DISEASES 479 \| ATP12A \| DISEASES 5539 \| PPY \| DISEASES 2026 \| ENO2 \| DISEASES 113246 \| C12orf57 \| DISEASES 7372 \| UMPS \| DISEASES 9173 \| IL1RL1 \| DISEASES 4852 \| NPY \| DISEASES 8189 \| SYMPK \| DISEASES 6538 \| SLC6A11 \| DISEASES 23225 \| NUP210 \| DISEASES 29969 \| MDFIC \| DISEASES 27348 \| TOR1B \| DISEASES 490 \| ATP2B1 \| DISEASES 9043 \| SPAG9 \| DISEASES 495 \| ATP4A \| DISEASES 735 \| C9 \| DISEASES 89884 \| LHX4 \| DISEASES 23530 \| NNT \| DISEASES 5443 \| POMC \| DISEASES 7008 \| TEF \| DISEASES 7157 \| TP53 \| DISEASES 7345 \| UCHL1 \| DISEASES 6750 \| SST \| DISEASES 3815 \| KIT \| DISEASES 8209 \| C21orf33 \| DISEASES 6853 \| SYN1 \| DISEASES 2982 \| GUCY1A3 \| DISEASES 4131 \| MAP1B \| DISEASES 94274 \| PPP1R14A \| DISEASES 1632 \| ECI1 \| DISEASES 2525 \| FUT3 \| DISEASES 29925 \| GMPPB \| DISEASES 8636 \| SSNA1 \| DISEASES 29926 \| GMPPA \| DISEASES 147912 \| SIX5 \| DISEASES 6863 \| TAC1 \| DISEASES 3321 \| IGSF3 \| DISEASES 7433 \| VIPR1 \| DISEASES 221937 \| FOXK1 \| DISEASES 9146 \| HGS \| DISEASES 2520 \| GAST \| DISEASES 1287 \| COL4A5 \| DISEASES 6546 \| SLC8A1 \| DISEASES 2689 \| GH2 \| DISEASES 4158 \| MC2R \| DISEASES 503841 \| DEFB106B \| DISEASES 245909 \| DEFB106A \| DISEASES 60684 \| TRAPPC11 \| DISEASES 885 \| CCK \| DISEASES 9138 \| ARHGEF1 \| DISEASES 4842 \| NOS1 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 3767 \| KCNJ11 \| DISEASES 6334 \| SCN8A \| DISEASES 5979 \| RET \| DISEASES 140885 \| SIRPA \| DISEASES 83658 \| DYNLRB1 \| DISEASES 135250 \| RAET1E \| DISEASES 26191 \| PTPN22 \| DISEASES 6693 \| SPN \| DISEASES 23230 \| VPS13A \| DISEASES 9851 \| KIAA0753 \| DISEASES 57611 \| ISLR2 \| DISEASES 7432 \| VIP \| DISEASES 9095 \| TBX19 \| DISEASES 10768 \| AHCYL1 \| DISEASES 6658 \| SOX3 \| DISEASES 10555 \| AGPAT2 \| DISEASES 1288 \| COL4A6 \| DISEASES 80712 \| ESX1 \| DISEASES 10269 \| ZMPSTE24 \| DISEASES 3055 \| HCK \| DISEASES 353116 \| RILPL1 \| DISEASES 1910 \| EDNRB \| DISEASES 54363 \| HAO1 \| DISEASES 6303 \| SAT1 \| DISEASES 795 \| S100G \| DISEASES 8544 \| PIR \| DISEASES 11168 \| PSIP1 \| DISEASES 9037 \| SEMA5A \| DISEASES 5650 \| KLK7 \| DISEASES 51520 \| LARS \| DISEASES 1837 \| DTNA \| DISEASES 23077 \| MYCBP2 \| DISEASES 9278 \| ZBTB22 \| DISEASES 51071 \| DERA \| DISEASES 51741 \| WWOX \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	135
Disease	achalasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:32) HP:0002015 \| Swallowing difficulty \| 8 HP:0030731 \| Carcinoma \| 4 HP:0000083 \| Renal insufficiency \| 4 HP:0000846 \| Hypoadrenalism \| 4 HP:0002835 \| Aspiration \| 3 HP:0002020 \| Heartburn \| 3 HP:0012531 \| Pain \| 3 HP:0002860 \| Squamous cell carcinoma \| 3 HP:0002013 \| Emesis \| 2 HP:0005214 \| Bowel obstruction \| 2 HP:0011459 \| Esophageal carcinoma \| 2 HP:0001510 \| Growth deficiency \| 2 HP:0100749 \| Thoracic pain \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0010307 \| Stridor \| 1 HP:0002040 \| Esophageal varix \| 1 HP:0001081 \| Gallstones \| 1 HP:0004395 \| Malnutrition \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0004326 \| Cachexia \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0002248 \| Vomitting blood \| 1 HP:0002100 \| Recurrent aspiration pneumonia \| 1 HP:0006532 \| Pneumonia, recurrent episodes \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0100633 \| Inflammation of the esophagus \| 1 HP:0011951 \| Aspiration pneumonia \| 1 HP:0001369 \| Arthritis \| 1 HP:0000822 \| Hypertension \| 1 HP:0002039 \| Anorexia \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001249 \| Mental retardation \| 1

Disease ID	135
Disease	achalasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:68) C2712332 \| vomiting C2598155 \| pain C2364133 \| infection C2220255 \| motor disturbances C2063385 \| left atrial thrombosis C2004489 \| regurgitation C1963138 \| hypertension C1963059 \| adrenal insufficiency C1955743 \| mineralocorticoid deficiency C1550639 \| fistula C1546602 \| diverticulum C1527356 \| stasis ulcers C1333459 \| esophageal lymphoma C1330961 \| acidity C1321581 \| bezoar C1112474 \| small cell carcinoma of the esophagus C0740852 \| upper airway obstruction C0677659 \| reflux esophagitis C0553844 \| keratoconjunctivitis sicca C0546837 \| oesophageal cancer C0546837 \| esophageal cancer C0546837 \| cancer of the esophagus C0422833 \| ent symptoms C0340221 \| tracheal obstruction C0279626 \| oesophageal squamous cell carcinoma C0279626 \| esophageal squamous cell carcinoma C0268306 \| unconjugated hyperbilirubinaemia C0267373 \| intestinal bleeding C0267191 \| organoaxial gastric volvulus C0267094 \| esophagobronchial fistula C0267085 \| epiphrenic diverticulum C0239295 \| esophageal candidiasis C0238062 \| chronic intestinal pseudo-obstruction C0234131 \| motor dysfunction C0221163 \| motor disorders C0178703 \| hypertrophic osteoarthropathy C0152020 \| gastroparesis C0152018 \| oesophageal carcinoma C0152018 \| esophageal carcinoma C0152018 \| carcinoma of the esophagus C0039070 \| syncope C0038450 \| stridor C0037090 \| pulmonary symptoms C0032319 \| pneumopericardium C0030920 \| peptic ulcer C0025164 \| megaesophagus C0022104 \| irritable bowel syndrome C0019291 \| hiatus hernia C0019291 \| hiatal hernia C0018834 \| heartburn C0017178 \| gastrointestinal diseases C0017168 \| ge reflux C0017168 \| gastroesophageal reflux C0017168 \| acid reflux C0014868 \| oesophagitis C0014860 \| esophageal perforation C0014852 \| oesophageal diseases C0014852 \| esophageal dysfunction C0014848 \| cardiospasm C0011168 \| dysphagia C0008031 \| chest pain C0007137 \| squamous cell carcinoma C0006271 \| bronchiolitis C0004936 \| mental disorders C0004763 \| barrett's syndrome C0004763 \| barrett's esophagus C0001883 \| airway obstruction C0001418 \| adenocarcinoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:24) C0011168 \| dysphagia \| 8 C0014859 \| esophageal cancer \| 7 C0001623 \| adrenal insufficiency \| 4 C0025164 \| megaesophagus \| 3 C0030193 \| pain \| 3 C0007137 \| squamous cell carcinoma \| 3 C0012817 \| diverticulum \| 2 C0008031 \| chest pain \| 2 C0018834 \| heartburn \| 2 C0014860 \| esophageal perforation \| 2 C0042963 \| vomiting \| 2 C0152018 \| esophageal carcinoma \| 2 C0009450 \| infection \| 1 C0038450 \| stridor \| 1 C0016169 \| fistula \| 1 C1527356 \| stasis ulcers \| 1 C0267085 \| epiphrenic diverticulum \| 1 C0221163 \| motor disorders \| 1 C0239295 \| esophageal candidiasis \| 1 C0005332 \| bezoar \| 1 C0020538 \| hypertension \| 1 C0422833 \| ent symptoms \| 1 C0037090 \| pulmonary symptoms \| 1 C0014869 \| reflux esophagitis \| 1

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs2476601	17961776	26191	PTPN22	umls:C0014848	BeFree	Gender-specific association of the PTPN22 C1858T polymorphism with achalasia.	0.002638474	2007	PTPN22;AP4B1-AS1	1	113834946	A	G

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:0002860	Squamous cell carcinoma	MP:0003331	increased hepatocellular carcinoma incidence;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002860	Squamous cell carcinoma	MP:0000639	abnormal adrenal gland morphology;HP:0000822	Hypertension

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.)

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