PedAM

Pediatric Disease Annotations & Medicines


	wagr syndrome

Disease ID	79
Disease	wagr syndrome
Definition	A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Synonym	11p partial monosomy syndrome 11p partial monosomy syndrome (disorder) aniridia-wilms tumor association aniridia-wilms tumour association chromosome 11p13 deletion syndrome chromosome 11p13 deletion syndrome (disorder) complex, wagr contiguous gene syndrome, wagr syndrome, wagr wagr wagr (wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome wagr (wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome wagr complex wagr complices wagr contiguous gene syndrome wagr syndrome [disease/finding] wagr syndromes wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome wilms tumor-aniridia-genital anomalies-retardation syndrome wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome wilms tumor-aniridia-genitourinary anomalies-mr syndrome wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome
Orphanet	ORPHANET:893
OMIM	OMIM:194072
DOID	DOID:14515
UMLS	C0206115
MeSH	D017624
SNOMED-CT	SNOMEDCT_US_2016_09_01:4135001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0017601 \| glaucoma \| 1 C0020302 \| developmental glaucoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) WT1 \| 7490 \| CTD_human;ORPHANET;GHR PAX6 \| 5080 \| ORPHANET;GHR BDNF \| 627 \| ORPHANET;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7490 \| WT1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 847 \| CAT \| DISEASES 10343 \| PKDREJ \| DISEASES 2488 \| FSHB \| DISEASES 79056 \| PRRG4 \| DISEASES 55327 \| LIN7C \| DISEASES 6506 \| SLC1A2 \| DISEASES 26610 \| ELP4 \| DISEASES 9317 \| PTER \| DISEASES 5896 \| RAG1 \| DISEASES 613 \| BCR \| DISEASES 10782 \| ZNF274 \| DISEASES 977 \| CD151 \| DISEASES 3739 \| KCNA4 \| DISEASES 7490 \| WT1 \| DISEASES 60529 \| ALX4 \| DISEASES 744 \| MPPED2 \| DISEASES 9682 \| KDM4A \| DISEASES 84678 \| KDM2B \| DISEASES 5420 \| PODXL \| DISEASES 4868 \| NPHS1 \| DISEASES 5080 \| PAX6 \| DISEASES 55366 \| LGR4 \| DISEASES 9244 \| CRLF1 \| DISEASES 1621 \| DBH \| DISEASES 758 \| MPPED1 \| DISEASES 3481 \| IGF2 \| DISEASES 627 \| BDNF \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) PAX6 \| 11p13 BDNF \| 11p14.1 WT1 \| 11p13

Disease ID	79
Disease	wagr syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:18) HP:0000518 \| Cataract HP:0000639 \| Nystagmus HP:0001513 \| Obesity HP:0000505 \| Visual impairment HP:0004322 \| Short stature HP:0002650 \| Scoliosis HP:0000347 \| Micrognathia HP:0007299 \| Dysfunction of lateral corticospinal tracts HP:0000252 \| Microcephaly HP:0000028 \| Cryptorchidism HP:0000501 \| Glaucoma HP:0001249 \| Intellectual disability HP:0000364 \| Hearing abnormality HP:0008053 \| Aplasia/Hypoplasia of the iris HP:0100627 \| Displacement of the external urethral meatus HP:0000508 \| Ptosis HP:0000232 \| Everted lower lip vermilion HP:0000062 \| Ambiguous genitalia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001636 \| Tetrology of fallot \| 1 HP:0000501 \| Glaucoma \| 1

Disease ID	79
Disease	wagr syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1417247 \| glomerulosclerosis C0494752 \| diaphragmatic hernia C0025362 \| mental retardation C0022665 \| renal tumor C0004352 \| autism
Text Mined Symptom	(Waiting for update.)

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000062	Ambiguous genitalia	MP:0009202	small external male genitalia;HP:0008053	Aplasia/Hypoplasia of the iris

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000501	Glaucoma	MP:0000010	abnormal abdominal fat pad morphology;HP:0100543	Cognitive impairment

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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