PedAM

Pediatric Disease Annotations & Medicines


	wolfram syndrome

Disease ID	202
Disease	wolfram syndrome
Definition	A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
Synonym	diabetes insipidus and mellitus with optic atrophy and deafness diabetes insipidus, diabetes mellitus, optic atrophy and deafness diabetes insipidus, diabetes mellitus, optic atrophy, and deafness diabetes insipidus,diabetes mellitus, optic atrophy and deafness diabetes insipidus,diabetes mellitus, optic atrophy and deafness (disorder) diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus and insipidus with optic atrophy and deafness (disorder) didmoad didmoad - diabetes insipidus, diabetes mellitus, optic atrophy and deafness didmoad - diabetes insipidus,diabetes mellitus, optic atrophy and deafness didmoad syndrome didmoadud marquardt-loriaux syndrome syndrome, wolfram wfs wfs1 wolfram syndrome 1 wolfram syndrome [disease/finding]
Orphanet	ORPHANET:3463
OMIM	OMIM:222300 OMIM:606201
DOID	DOID:10632 DOID:9931
UMLS	C0043207
MeSH	D014929
SNOMED-CT	SNOMEDCT_US_2016_09_01:70694009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0011847 \| diabetes \| 6 C0011849 \| diabetes mellitus \| 2 C0011854 \| juvenile onset diabetes mellitus \| 1 C0010068 \| coronary artery disease \| 1 C0878544 \| cardiomyopathy \| 1 C0442874 \| neuropathy \| 1 C0086543 \| cataract \| 1 C0039841 \| thiamine deficiency \| 1 C0011854 \| type 1 diabetes \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) WFS1 \| 7466 \| CLINVAR;GHR;ORPHANET;OMIM;UNIPROT;CTD_human CISD2 \| 493856 \| ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:152) 27184 \| DISC2 \| DISEASES 10083 \| USH1C \| DISEASES 2554 \| GABRA1 \| DISEASES 29850 \| TRPM5 \| DISEASES 4335 \| MNT \| DISEASES 359 \| AQP2 \| DISEASES 359 \| AQP2 \| DISEASES 638 \| BIK \| DISEASES 328 \| APEX1 \| DISEASES 328 \| APEX1 \| DISEASES 6880 \| TAF9 \| DISEASES 27344 \| PCSK1N \| DISEASES 26574 \| AATF \| DISEASES 26574 \| AATF \| DISEASES 6928 \| HNF1B \| DISEASES 7466 \| WFS1 \| DISEASES 7466 \| WFS1 \| DISEASES 5459 \| POU4F3 \| DISEASES 10560 \| SLC19A2 \| DISEASES 8192 \| CLPP \| DISEASES 3630 \| INS \| DISEASES 3630 \| INS \| DISEASES 1890 \| TYMP \| DISEASES 1965 \| EIF2S1 \| DISEASES 1965 \| EIF2S1 \| DISEASES 10518 \| CIB2 \| DISEASES 580 \| BARD1 \| DISEASES 5126 \| PCSK2 \| DISEASES 10133 \| OPTN \| DISEASES 89884 \| LHX4 \| DISEASES 2557 \| GABRA4 \| DISEASES 7840 \| ALMS1 \| DISEASES 2121 \| EVC \| DISEASES 10512 \| SEMA3C \| DISEASES 10371 \| SEMA3A \| DISEASES 23395 \| LARS2 \| DISEASES 4885 \| NPTX2 \| DISEASES 3416 \| IDE \| DISEASES 83729 \| INHBE \| DISEASES 6895 \| TARBP2 \| DISEASES 9775 \| EIF4A3 \| DISEASES 493856 \| CISD2 \| DISEASES 493856 \| CISD2 \| DISEASES 54901 \| CDKAL1 \| DISEASES 54901 \| CDKAL1 \| DISEASES 54539 \| NDUFB11 \| DISEASES 3087 \| HHEX \| DISEASES 23250 \| ATP11A \| DISEASES 23250 \| ATP11A \| DISEASES 223117 \| SEMA3D \| DISEASES 114 \| ADCY8 \| DISEASES 114 \| ADCY8 \| DISEASES 2565 \| GABRG1 \| DISEASES 2560 \| GABRB1 \| DISEASES 4286 \| MITF \| DISEASES 8820 \| HESX1 \| DISEASES 6447 \| SCG5 \| DISEASES 4597 \| MVD \| DISEASES 148170 \| CDC42EP5 \| DISEASES 51082 \| POLR1D \| DISEASES 9723 \| SEMA3E \| DISEASES 7399 \| USH2A \| DISEASES 1816 \| DRD5 \| DISEASES 3708 \| ITPR1 \| DISEASES 3708 \| ITPR1 \| DISEASES 27289 \| RND1 \| DISEASES 8061 \| FOSL1 \| DISEASES 80207 \| OPA3 \| DISEASES 1400 \| CRMP1 \| DISEASES 491 \| ATP2B2 \| DISEASES 491 \| ATP2B2 \| DISEASES 3309 \| HSPA5 \| DISEASES 3309 \| HSPA5 \| DISEASES 55432 \| YOD1 \| DISEASES 4094 \| MAF \| DISEASES 7401 \| CLRN1 \| DISEASES 79680 \| C22orf29 \| DISEASES 2242 \| FES \| DISEASES 222546 \| RFX6 \| DISEASES 554 \| AVPR2 \| DISEASES 89910 \| UBE3B \| DISEASES 10746 \| MAP3K2 \| DISEASES 7398 \| USP1 \| DISEASES 144165 \| PRICKLE1 \| DISEASES 3767 \| KCNJ11 \| DISEASES 3767 \| KCNJ11 \| DISEASES 6925 \| TCF4 \| DISEASES 2202 \| EFEMP1 \| DISEASES 3476 \| IGBP1 \| DISEASES 2555 \| GABRA2 \| DISEASES 1297 \| COL9A1 \| DISEASES 493 \| ATP2B4 \| DISEASES 493 \| ATP2B4 \| DISEASES 55340 \| GIMAP5 \| DISEASES 1201 \| CLN3 \| DISEASES 4519 \| MT-CYB \| DISEASES 57154 \| SMURF1 \| DISEASES 65217 \| PCDH15 \| DISEASES 4538 \| MT-ND4 \| DISEASES 4514 \| MT-CO3 \| DISEASES 55157 \| DARS2 \| DISEASES 8678 \| BECN1 \| DISEASES 27185 \| DISC1 \| DISEASES 2556 \| GABRA3 \| DISEASES 6658 \| SOX3 \| DISEASES 80712 \| ESX1 \| DISEASES 55847 \| CISD1 \| DISEASES 3710 \| ITPR3 \| DISEASES 3710 \| ITPR3 \| DISEASES 5698 \| PSMB9 \| DISEASES 2159 \| F10 \| DISEASES 1188 \| CLCNKB \| DISEASES 81562 \| LMAN2L \| DISEASES 5457 \| POU4F1 \| DISEASES 4693 \| NDP \| DISEASES 51334 \| PRR16 \| DISEASES 551 \| AVP \| DISEASES 551 \| AVP \| DISEASES 7436 \| VLDLR \| DISEASES 10644 \| IGF2BP2 \| DISEASES 10644 \| IGF2BP2 \| DISEASES 2706 \| GJB2 \| DISEASES 1285 \| COL4A3 \| DISEASES 23365 \| ARHGEF12 \| DISEASES 23532 \| PRAME \| DISEASES 64072 \| CDH23 \| DISEASES 79174 \| CRELD2 \| DISEASES 91319 \| DERL3 \| DISEASES 4647 \| MYO7A \| DISEASES 4647 \| MYO7A \| DISEASES 131578 \| LRRC15 \| DISEASES 284106 \| CISD3 \| DISEASES 5538 \| PPT1 \| DISEASES 5538 \| PPT1 \| DISEASES 5999 \| RGS4 \| DISEASES 2081 \| ERN1 \| DISEASES 26054 \| SENP6 \| DISEASES 26168 \| SENP3 \| DISEASES 9709 \| HERPUD1 \| DISEASES 169026 \| SLC30A8 \| DISEASES 22862 \| FNDC3A \| DISEASES 22862 \| FNDC3A \| DISEASES 79068 \| FTO \| DISEASES 5478 \| PPIA \| DISEASES 1020 \| CDK5 \| DISEASES 3295 \| HSD17B4 \| DISEASES 246744 \| STH \| DISEASES 6934 \| TCF7L2 \| DISEASES 11245 \| GPR176 \| DISEASES 100124700 \| HOTAIR \| DISEASES 79104 \| MEG8 \| DISEASES 4566 \| MT-TK \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) WFS1 \| 4p16.1 CISD2 \| 4q24

Disease ID	202
Disease	wolfram syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:39) HP:0000407 \| Sensorineural hearing impairment HP:0002239 \| Gastrointestinal hemorrhage HP:0000026 \| Male hypogonadism HP:0000738 \| Hallucinations HP:0000823 \| Delayed puberty HP:0002019 \| Constipation HP:0000708 \| Behavioral abnormality HP:0000135 \| Hypogonadism HP:0009830 \| Peripheral neuropathy HP:0001251 \| Ataxia HP:0000079 \| Abnormality of the urinary system HP:0000501 \| Glaucoma HP:0000819 \| Diabetes mellitus HP:0000873 \| Diabetes insipidus HP:0001250 \| Seizures HP:0002093 \| Respiratory insufficiency HP:0001260 \| Dysarthria HP:0002376 \| Developmental regression HP:0002871 \| Central apnea HP:0003198 \| Myopathy HP:0000726 \| Dementia HP:0000010 \| Recurrent urinary tract infections HP:0001638 \| Cardiomyopathy HP:0002024 \| Malabsorption HP:0100016 \| Abnormality of the mesentery HP:0000639 \| Nystagmus HP:0001903 \| Anemia HP:0000112 \| Nephropathy HP:0000602 \| Ophthalmoplegia HP:0002360 \| Sleep disturbance HP:0008872 \| Feeding difficulties in infancy HP:0001249 \| Intellectual disability HP:0000648 \| Optic atrophy HP:0002120 \| Cerebral cortical atrophy HP:0001387 \| Joint stiffness HP:0002592 \| Gastric ulcer HP:0100518 \| Dysuria HP:0001959 \| Polydipsia HP:0002459 \| Dysautonomia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0000819 \| Diabetes mellitus \| 2 HP:0002521 \| Hypsarrhythmia by EEG \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0005181 \| Premature coronary artery disease \| 1 HP:0006279 \| Beta-cell dysfunction \| 1 HP:0000518 \| Cataract \| 1 HP:0003689 \| Multiple mtDNA deletions \| 1 HP:0000969 \| Dropsy \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0001638 \| Cardiomyopathy \| 1

Disease ID	202
Disease	wolfram syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2004461 \| bowel dysfunction C1384666 \| hearing impairment C0233401 \| psychiatric symptoms C0035334 \| pigmentary maculopathy C0029124 \| optic nerve atrophy C0029124 \| optic atrophy
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:21)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893879	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301739	G	A,C
rs104893880	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6291961	C	T
rs104893881	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6302250	C	T
rs1801208	10679252	7466	WFS1	umls:C0043207	BeFree	Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis.	0.626119279	2000	WFS1	4	6301162	G	A,C,T
rs199946797	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301467	C	A,T
rs28937890	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301966	C	T
rs28937890	9771706	7466	WFS1	umls:C0043207	UNIPROT	Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype.	0.626119279	1998	WFS1	4	6301966	C	T
rs28937891	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301879	G	A,T
rs28937891	9771706	7466	WFS1	umls:C0043207	UNIPROT	Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype.	0.626119279	1998	WFS1	4	6301879	G	A,T
rs28937892	11161832	7466	WFS1	umls:C0043207	UNIPROT	Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.	0.626119279	2001	WFS1	4	6301306	C	T
rs28937892	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301306	C	T
rs28937893	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301941	G	A
rs35932623	11161832	7466	WFS1	umls:C0043207	UNIPROT	Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.	0.626119279	2001	WFS1	4	6302247	C	T
rs372249044	16151413	7466	WFS1	umls:C0043207	BeFree	WFS1 variants were identified in eight subjects from seven families with WS, leading to the identification of four novel mutations, Q194X (nonsense), H313Y (missense), L313fsX360 (duplication frame shift) and F883fsX951 (deletion frame shift), and four previously reported mutations, A133T and L543R (missense), V415del (in frame triple deletion) and F883fsX950 (deletion frame shift).	0.626119279	2005	WFS1	4	6289068	G	A
rs387906930	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301846	C	T
rs587776598	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6289095	-	GGCCGTCGCGAGGCTG
rs71524377	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6301914	G	A,T
rs71530910	15605410	7466	WFS1	umls:C0043207	UNIPROT	Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.	0.626119279	2005	WFS1	4	6301680	C	T
rs71530923	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6277579	C	T
rs797045075	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6302058	T	C
rs797045076	NA	7466	WFS1	umls:C0043207	CLINVAR	NA	0.626119279	NA	WFS1	4	6302443	TCTT	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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