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	whitaker syndrome

Disease ID	1974
Disease	whitaker syndrome
Synonym	aire deficiencies aire deficiency apeced apeced - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy apeded aps i aps type 1 aps1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia autoimmune polyendocrinopathy candidiasis ectodermal dystrophy autoimmune polyendocrinopathy syndrome type 1 autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy autoimmune polyglandular syndrome type i autoimmune polyglandular syndrome, type 1 autoimmune polyglandular syndrome, type i autoimmune syndrome type i, polyglandular blizzard syndrome candidiasis-endocrinopathy syndrome deficiency, aire endocrinopathy, familial, juvenile ham syndrome hypoadrenocorticism with hypoparathyroidism and superficial moniliasis hypoadrenocorticism, hypoparathyroidism and superficial moniliasis hypoparathyroidism, addison's disease and moniliasis juvenile familial endocrinopathy pga i polyendocrinopathy candidiasis ectodermal dystrophy, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, autoimmune polyglandular autoimmune syndrome - type 1 polyglandular autoimmune syndrome - type 1 (disorder) polyglandular autoimmune syndrome, type 1 polyglandular autoimmune syndrome, type 1 (disorder) polyglandular autoimmune syndrome, type i polyglandular deficiency associated with mucocutaneous candidiasis polyglandular type i autoimmune syndrome type 1 polyendocrine autoimmunity syndrome
Orphanet	ORPHANET:3453
OMIM	OMIM:240300 OMIM:300528
DOID	DOID:0050167
UMLS	C0085859
SNOMED-CT	SNOMEDCT_US_2016_09_01:11244009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:111) C0040053 \| thrombosis \| 9 C0006840 \| candidiasis \| 4 C0011847 \| diabetes \| 3 C0497327 \| dementia \| 2 C0027051 \| myocardial infarct \| 2 C0000786 \| miscarriage \| 2 C0042373 \| vascular disorders \| 2 C0020626 \| hypoparathyroidism \| 2 C0042373 \| vascular disorder \| 2 C0021053 \| immune disease \| 2 C0041296 \| tuberculosis \| 2 C0242379 \| lung cancer \| 2 C0000809 \| recurrent miscarriage \| 2 C0006845 \| chronic mucocutaneous candidiasis \| 2 C0022104 \| irritable bowel \| 2 C0162739 \| hellp syndrome \| 2 C0027051 \| myocardial infarction \| 2 C0007137 \| squamous cell carcinoma \| 2 C0022104 \| irritable bowel syndrome \| 2 C0022658 \| renal disease \| 2 C0010674 \| cystic fibrosis \| 1 C0001125 \| lactic acidosis \| 1 C0149521 \| chronic pancreatitis \| 1 C0017178 \| gastrointestinal disorder \| 1 C0010346 \| crohn's disease \| 1 C0042170 \| harada disease \| 1 C0007131 \| non-small cell lung cancer \| 1 C0036420 \| localized scleroderma \| 1 C0018801 \| heart failure \| 1 C0030524 \| johne's disease \| 1 C0040128 \| thyroid disease \| 1 C0036315 \| bilharzia \| 1 C0027697 \| nephritis \| 1 C0282193 \| iron overload \| 1 C0013473 \| eating disorder \| 1 C0014118 \| endocarditis \| 1 C0235270 \| keratopathy \| 1 C0011881 \| diabetic kidney disease \| 1 C0031046 \| pericarditis \| 1 C0149925 \| small cell lung cancer \| 1 C0022116 \| ischaemia \| 1 C0026848 \| myopathy \| 1 C0022656 \| renal cortical necrosis \| 1 C1261473 \| sarcoma \| 1 C0014130 \| endocrine disease \| 1 C0376358 \| prostate cancer \| 1 C0011854 \| type 1 diabetes mellitus \| 1 C0042769 \| viral infections \| 1 C0015645 \| fasciitis \| 1 C0024299 \| lymphomas \| 1 C0042170 \| vogt-koyanagi-harada disease \| 1 C0040034 \| thrombocytopenia \| 1 C0022658 \| kidney disease \| 1 C0035078 \| renal failure \| 1 C0011849 \| diabetes mellitus \| 1 C0013338 \| growth hormone deficiency \| 1 C0264793 \| idiopathic dilated cardiomyopathy \| 1 C0007222 \| cardiovascular disease \| 1 C0004106 \| astigmatism \| 1 C0878544 \| cardiomyopathies \| 1 C0011644 \| scleroderma \| 1 C0020676 \| hypothyroidism \| 1 C0021400 \| influenza \| 1 C0017636 \| glioblastoma \| 1 C0011854 \| type 1 diabetes \| 1 C0042075 \| urological disorders \| 1 C0027051 \| myocardial infarction (mi) \| 1 C0238124 \| necrotizing fasciitis \| 1 C0013473 \| eating disorders \| 1 C0016470 \| food allergy \| 1 C0152025 \| polyneuropathy \| 1 C0042769 \| viral infection \| 1 C0001144 \| acne vulgaris \| 1 C1145670 \| respiratory failure \| 1 C0920350 \| autoimmune thyroiditis \| 1 C0042373 \| vascular disease \| 1 C0206673 \| syringomas \| 1 C0022658 \| renal diseases \| 1 C0007131 \| nsclc \| 1 C0011570 \| depression \| 1 C0085278 \| antiphospholipid syndrome \| 1 C0033953 \| sexual dysfunction \| 1 C0022116 \| ischemia \| 1 C0677607 \| hashimoto's disease \| 1 C0040147 \| thyroiditis \| 1 C0034902 \| pure red cell aplasia \| 1 C0024214 \| lymphangiectasia \| 1 C0553580 \| ewing's sarcoma \| 1 C0030305 \| pancreatitis \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0281963 \| red cell aplasia \| 1 C0019163 \| hepatitis b \| 1 C0014544 \| epilepsy \| 1 C0022661 \| end-stage renal disease \| 1 C0034494 \| rabies \| 1 C0027765 \| neurological disorders \| 1 C0007137 \| squamous cell carcinomas \| 1 C0017178 \| gastrointestinal disorders \| 1 C0027765 \| neurological disorder \| 1 C0018099 \| gout \| 1 C0024115 \| lung disease \| 1 C0027707 \| interstitial nephritis \| 1 C0003467 \| anxiety \| 1 C0021053 \| immune disorder \| 1 C0040053 \| thrombus \| 1 C1260899 \| diamond-blackfan anemia \| 1 C0028754 \| obesity \| 1 C0151744 \| myocardial ischemia \| 1 C0878544 \| cardiomyopathy \| 1 C0025958 \| microcephaly \| 1 C0000809 \| habitual abortion \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 55190 \| NUDT11 \| OMIM 326 \| AIRE \| CLINVAR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1974
Disease	whitaker syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:73) HP:0002960 \| Autoimmune condition \| 9 HP:0002664 \| Neoplasia \| 3 HP:0012531 \| Pain \| 3 HP:0002728 \| Mucocutaneous candidiasis \| 3 HP:0000726 \| Dementia \| 2 HP:0030692 \| Brain tumor \| 2 HP:0002860 \| Squamous cell carcinoma \| 2 HP:0000829 \| Hypoparathyroidism \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0100537 \| Inflammation of the fascia \| 2 HP:0001658 \| Myocardial infarction \| 2 HP:0004936 \| Blood clot in vein \| 2 HP:0000360 \| Ringing in the ears \| 1 HP:0001399 \| Liver failure \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0100242 \| Sarcoma \| 1 HP:0001061 \| Acne \| 1 HP:0100646 \| Thyroiditis \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0001945 \| Fever \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0012378 \| Fatigue \| 1 HP:0030358 \| Non-small cell lung carcinoma \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0000822 \| Hypertension \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0001513 \| Obesity \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0000739 \| Anxiety \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001970 \| Interstitial nephritis \| 1 HP:0000483 \| Astigmatism \| 1 HP:0006280 \| Chronic pancreas inflammation \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0002719 \| infections, recurrent \| 1 HP:0009733 \| Glioma \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0000123 \| Nephritis \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0012410 \| Pure red cell aplasia \| 1 HP:0030216 \| Inertia \| 1 HP:0001997 \| Gout \| 1 HP:0100584 \| Endocarditis \| 1 HP:0000252 \| Small head circumference \| 1 HP:0012254 \| Ewing's sarcoma \| 1 HP:0001873 \| Low platelet count \| 1 HP:0001262 \| Somnolence \| 1 HP:0000716 \| Depression \| 1 HP:0100699 \| Scarring \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002593 \| Intestinal lymphangiectasia \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0001701 \| Pericarditis \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0001824 \| Weight loss \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0030731 \| Carcinoma \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0004420 \| Arterial thrombosis \| 1 HP:0002140 \| Ischemic stroke \| 1

Disease ID	1974
Disease	whitaker syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0006840 \| candidiasis \| 4 C0006845 \| chronic mucocutaneous candidiasis \| 1

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

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

All Snps(Total Genotypes:34)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434254	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44289773	C	A,T
rs121434256	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44287085	C	G,T
rs142788946	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44287012	G	T
rs150634562	11524731	326	AIRE	umls:C0085859	UNIPROT	APECED mutations in the autoimmune regulator (AIRE) gene.	0.335472187	2001	AIRE	21	44291116	G	A
rs179363875	12625412	326	AIRE	umls:C0085859	UNIPROT	Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene.	0.335472187	2002	AIRE	21	44286049	C	T
rs179363876	15712268	326	AIRE	umls:C0085859	UNIPROT	Two novel mutations of the AIRE protein affecting its homodimerization properties.	0.335472187	2005	AIRE	21	44286050	G	T
rs179363877	15712268	326	AIRE	umls:C0085859	UNIPROT	Two novel mutations of the AIRE protein affecting its homodimerization properties.	0.335472187	2005	AIRE	21	44286053	C	T
rs179363878	17547716	326	AIRE	umls:C0085859	BeFree	Recurrent herpes simplex virus infection in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy associated with L29P and IVS9-1G>C compound heterozygous autoimmune regulator gene mutations.	0.335472187	2007	AIRE	21	44286089	T	C
rs179363878	11524731	326	AIRE	umls:C0085859	UNIPROT	APECED mutations in the autoimmune regulator (AIRE) gene.	0.335472187	2001	AIRE	21	44286089	T	C
rs179363879	17547716	326	AIRE	umls:C0085859	BeFree	Recurrent herpes simplex virus infection in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy associated with L29P and IVS9-1G>C compound heterozygous autoimmune regulator gene mutations.	0.335472187	2007	AIRE	21	44286092	T	C
rs179363879	12173302	326	AIRE	umls:C0085859	UNIPROT	Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.	0.335472187	2002	AIRE	21	44286092	T	C
rs179363880	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44286656	T	A,C
rs179363880	15712268	326	AIRE	umls:C0085859	UNIPROT	Two novel mutations of the AIRE protein affecting its homodimerization properties.	0.335472187	2005	AIRE	21	44286656	T	A,C
rs179363881	11524731	326	AIRE	umls:C0085859	UNIPROT	APECED mutations in the autoimmune regulator (AIRE) gene.	0.335472187	2001	AIRE	21	44286662	G	T
rs179363882	12050215	326	AIRE	umls:C0085859	UNIPROT	AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.	0.335472187	2002	AIRE	21	44286678	A	G
rs179363882	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44286678	A	G
rs179363883	11524731	326	AIRE	umls:C0085859	UNIPROT	APECED mutations in the autoimmune regulator (AIRE) gene.	0.335472187	2001	AIRE	21	44286693	A	G
rs179363884	11524731	326	AIRE	umls:C0085859	UNIPROT	APECED mutations in the autoimmune regulator (AIRE) gene.	0.335472187	2001	AIRE	21	44286702	T	C,G
rs179363885	11524731	326	AIRE	umls:C0085859	UNIPROT	APECED mutations in the autoimmune regulator (AIRE) gene.	0.335472187	2001	AIRE	21	44291192	C	A,T
rs179363886	12050215	326	AIRE	umls:C0085859	UNIPROT	AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.	0.335472187	2002	AIRE	21	44286068	C	T
rs179363886	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44286068	C	T
rs179363887	15712268	326	AIRE	umls:C0085859	UNIPROT	Two novel mutations of the AIRE protein affecting its homodimerization properties.	0.335472187	2005	AIRE	21	44286654	T	C
rs179363888	11275943	326	AIRE	umls:C0085859	UNIPROT	Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.	0.335472187	2001	NA	NA	NA	NA	NA
rs179363889	11836330	326	AIRE	umls:C0085859	UNIPROT	Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.	0.335472187	2002	AIRE	21	44297705	C	T
rs193922417	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44287041	C	T
rs193922418	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44287133	G	A
rs34397615	11836330	326	AIRE	umls:C0085859	UNIPROT	Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.	0.335472187	2002	AIRE	21	44289759	C	T
rs386833672	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44293060	-	A
rs386833673	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44297727	A	T
rs386833674	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44291147	G	A
rs386833675	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44291182	CTGTCCCCTCCGC	-
rs72650677	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44293832	C	T
rs786204478	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44287135	T	C
rs786204567	NA	326	AIRE	umls:C0085859	CLINVAR	NA	0.335472187	NA	AIRE	21	44293146	-	C

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	1974
Disease	whitaker syndrome
Case	(Waiting for update.)