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encyclopedia of Rare Disease Annotation for Precision Medicine

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	achalasia

Disease ID	273
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
Orphanet	ORPHANET:930
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:42) C0014859 \| esophageal cancer \| 7 C1565489 \| renal insufficiency \| 4 C0001623 \| adrenal insufficiency \| 4 C0025164 \| megaesophagus \| 3 C0021053 \| immune disease \| 2 C0007137 \| squamous cell carcinoma \| 2 C0009326 \| rheumatologic disorder \| 1 C0032285 \| pneumoniae \| 1 C0036421 \| systemic sclerosis \| 1 C0014848 \| esophageal achalasia \| 1 C0748540 \| limited cutaneous systemic sclerosis \| 1 C0024623 \| gastric cancer \| 1 C0442874 \| neuropathy \| 1 C0003864 \| arthritis \| 1 C0008350 \| cholelithiasis \| 1 C0006840 \| candidiasis \| 1 C0014867 \| esophageal varices \| 1 C0152018 \| esophageal carcinoma \| 1 C0014868 \| esophagitis \| 1 C0021843 \| intestinal obstruction \| 1 C0006625 \| cachexia \| 1 C0025362 \| mental retardation \| 1 C0014869 \| reflux esophagitis \| 1 C0032290 \| aspiration pneumonia \| 1 C0014848 \| achalasia \| 1 C0239295 \| esophageal candidiasis \| 1 C0175702 \| williams-beuren syndrome \| 1 C0042345 \| varices \| 1 C0020676 \| hypothyroidism \| 1 C0032285 \| pneumonia \| 1 C0003125 \| anorexia nervosa \| 1 C0043121 \| wernicke's encephalopathy \| 1 C1145670 \| respiratory failure \| 1 C0271742 \| allgrove syndrome \| 1 C0151313 \| sensory neuropathy \| 1 C0345893 \| juvenile polyposis syndrome \| 1 C0345893 \| juvenile polyposis \| 1 C0085113 \| neurofibromatosis \| 1 C0041234 \| chagas' disease \| 1 C0024110 \| lung abscess \| 1 C0011847 \| diabetes \| 1 C0032298 \| lipoid pneumonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3117 \| HLA-DQA1 \| CTD_human 3119 \| HLA-DQB1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 4842 \| NOS1 \| CIPHER 4846 \| NOS3 \| CIPHER 149233 \| IL23R \| CIPHER 26191 \| PTPN22 \| CIPHER 7433 \| VIPR1 \| CIPHER 3117 \| HLA-DQA1 \| CTD_human 3119 \| HLA-DQB1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 10555 \| AGPAT2 \| 1.077 \| DISEASES 10768 \| AHCYL1 \| 2.441 \| DISEASES 9138 \| ARHGEF1 \| 1.629 \| DISEASES 885 \| CCK \| 1.184 \| DISEASES 1287 \| COL4A5 \| 1.507 \| DISEASES 1288 \| COL4A6 \| 2.452 \| DISEASES 245909 \| DEFB106A \| 2.567 \| DISEASES 503841 \| DEFB106B \| 2.567 \| DISEASES 51071 \| DERA \| 2.018 \| DISEASES 1837 \| DTNA \| 1.457 \| DISEASES 83658 \| DYNLRB1 \| 1.573 \| DISEASES 1910 \| EDNRB \| 1.347 \| DISEASES 80712 \| ESX1 \| 1.127 \| DISEASES 221937 \| FOXK1 \| 1.435 \| DISEASES 2520 \| GAST \| 3.259 \| DISEASES 2689 \| GH2 \| 1.457 \| DISEASES 54363 \| HAO1 \| 1.365 \| DISEASES 3055 \| HCK \| 2.519 \| DISEASES 9146 \| HGS \| 1.381 \| DISEASES 3117 \| HLA-DQA1 \| 1.059 \| DISEASES 3321 \| IGSF3 \| 1.977 \| DISEASES 57611 \| ISLR2 \| 2.213 \| DISEASES 102723508 \| KANTR \| 7.233 \| DISEASES 3767 \| KCNJ11 \| 1.159 \| DISEASES 9851 \| KIAA0753 \| 1.499 \| DISEASES 5650 \| KLK7 \| 1.043 \| DISEASES 51520 \| LARS \| 1.901 \| DISEASES 4158 \| MC2R \| 3.696 \| DISEASES 23077 \| MYCBP2 \| 1.266 \| DISEASES 4842 \| NOS1 \| 3.041 \| DISEASES 8544 \| PIR \| 1.045 \| DISEASES 11168 \| PSIP1 \| 1.147 \| DISEASES 26191 \| PTPN22 \| 1.201 \| DISEASES 135250 \| RAET1E \| 1.497 \| DISEASES 5979 \| RET \| 1.229 \| DISEASES 353116 \| RILPL1 \| 1.749 \| DISEASES 795 \| S100G \| 1.489 \| DISEASES 6303 \| SAT1 \| 2.389 \| DISEASES 6334 \| SCN8A \| 1.043 \| DISEASES 9037 \| SEMA5A \| 3.324 \| DISEASES 140885 \| SIRPA \| 1.89 \| DISEASES 6546 \| SLC8A1 \| 1.271 \| DISEASES 6658 \| SOX3 \| 1.329 \| DISEASES 6693 \| SPN \| 1.139 \| DISEASES 6863 \| TAC1 \| 1.994 \| DISEASES 9095 \| TBX19 \| 1.721 \| DISEASES 60684 \| TRAPPC11 \| 2.46 \| DISEASES 7432 \| VIP \| 2.734 \| DISEASES 7433 \| VIPR1 \| 2.08 \| DISEASES 23230 \| VPS13A \| 1.37 \| DISEASES 51741 \| WWOX \| 3.646 \| DISEASES 9278 \| ZBTB22 \| 1.126 \| DISEASES 10269 \| ZMPSTE24 \| 1.368 \| DISEASES
Locus	(Waiting for update.)

Disease ID	273
Disease	achalasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:39) HP:0002015 \| Swallowing difficulty \| 7 HP:0000083 \| Renal insufficiency \| 4 HP:0000846 \| Hypoadrenalism \| 4 HP:0002860 \| Squamous cell carcinoma \| 3 HP:0030731 \| Carcinoma \| 3 HP:0002835 \| Aspiration \| 3 HP:0001510 \| Growth deficiency \| 2 HP:0010307 \| Stridor \| 2 HP:0100749 \| Thoracic pain \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0006532 \| Pneumonia, recurrent episodes \| 2 HP:0002020 \| Heartburn \| 2 HP:0002013 \| Emesis \| 2 HP:0012531 \| Pain \| 2 HP:0000763 \| Sensory neuropathy \| 1 HP:0002040 \| Esophageal varix \| 1 HP:0010450 \| Narrowing of the esophagus \| 1 HP:0001249 \| Mental retardation \| 1 HP:0100628 \| Esophageal diverticulum \| 1 HP:0011951 \| Aspiration pneumonia \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0002100 \| Recurrent aspiration pneumonia \| 1 HP:0001369 \| Arthritis \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0000822 \| Hypertension \| 1 HP:0002039 \| Anorexia \| 1 HP:0002571 \| Achalasia \| 1 HP:0011459 \| Esophageal carcinoma \| 1 HP:0004326 \| Cachexia \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002248 \| Vomitting blood \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0001081 \| Gallstones \| 1 HP:0100633 \| Inflammation of the esophagus \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0000832 \| Primary hypothyroidism \| 1 HP:0005214 \| Bowel obstruction \| 1

Disease ID	273
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:23) C0011168 \| dysphagia \| 7 C0014859 \| esophageal cancer \| 7 C0001623 \| adrenal insufficiency \| 4 C0025164 \| megaesophagus \| 3 C0008031 \| chest pain \| 2 C0014860 \| esophageal perforation \| 2 C0042963 \| vomiting \| 2 C0007137 \| squamous cell carcinoma \| 2 C0030193 \| pain \| 2 C0038450 \| stridor \| 1 C0014869 \| reflux esophagitis \| 1 C0016169 \| fistula \| 1 C0020538 \| hypertension \| 1 C0009450 \| infection \| 1 C0005332 \| bezoar \| 1 C0239295 \| esophageal candidiasis \| 1 C0018834 \| heartburn \| 1 C1527356 \| stasis ulcers \| 1 C0221163 \| motor disorders \| 1 C0267085 \| epiphrenic diverticulum \| 1 C0037090 \| pulmonary symptoms \| 1 C0152018 \| esophageal carcinoma \| 1 C0012817 \| diverticulum \| 1

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

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

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

Disease ID	273
Disease	achalasia
Case	(Waiting for update.)

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