PedAM

Pediatric Disease Annotations & Medicines


	bannayan-riley-ruvalcaba syndrome

Disease ID	335
Disease	bannayan-riley-ruvalcaba syndrome
Definition	A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.
Synonym	bannayan riley ruvalcaba syndrome bannayan syndrome bannayan syndrome (disorder) bannayan zonana syndrome bannayan-ruvalcaba-riley syndrome bannayan-zonana syndrome brrs bzs haemangiomata with macrocephaly and pseudopapilloedema hemangiomata with macrocephaly and pseudopapilledema macrocephaly with multiple lipomas and haemangiomas macrocephaly with multiple lipomas and hemangiomas macrocephaly, multiple lipomas, and hemangiomata macrocephaly, pseudopapilledema, and multiple hemangiomas macrocephaly, pseudopapilledema, and multiple hemangiomata myhre riley smith syndrome myhre-riley-smith syndrome riley smith syndrome riley-smith syndrome riley-smith syndrome (disorder) rmss ruvalcaba myhre smith syndrome ruvalcaba-myhre syndrome ruvalcaba-myhre syndrome (disorder) ruvalcaba-myhre syndrome [ambiguous] ruvalcaba-myhre-smith syndrome
Orphanet	ORPHANET:109
OMIM	OMIM:153480
DOID	DOID:0050657
ICD10	ICD10CM:E71.440
UMLS	C0265326
SNOMED-CT	SNOMEDCT_US_2016_09_01:234138005;SNOMEDCT_US_2016_09_01:46011003;SNOMEDCT_US_2016_09_01:21984008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0018552 \| hamartomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PTEN \| 5728 \| CLINVAR;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:26) 7145 \| TNS1 \| DISEASES 4849 \| CNOT3 \| DISEASES 7392 \| USF2 \| DISEASES 657 \| BMPR1A \| DISEASES 6009 \| RHEB \| DISEASES 5172 \| SLC26A4 \| DISEASES 207 \| AKT1 \| DISEASES 5921 \| RASA1 \| DISEASES 114790 \| STK11IP \| DISEASES 6794 \| STK11 \| DISEASES 7329 \| UBE2I \| DISEASES 4089 \| SMAD4 \| DISEASES 7332 \| UBE2L3 \| DISEASES 56704 \| JPH1 \| DISEASES 6925 \| TCF4 \| DISEASES 1785 \| DNM2 \| DISEASES 7516 \| XRCC2 \| DISEASES 7391 \| USF1 \| DISEASES 5728 \| PTEN \| DISEASES 9562 \| MINPP1 \| DISEASES 4595 \| MUTYH \| DISEASES 2159 \| F10 \| DISEASES 675 \| BRCA2 \| DISEASES 116372 \| LYPD1 \| DISEASES 5378 \| PMS1 \| DISEASES 672 \| BRCA1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PTEN \| 10q23.31

Disease ID	335
Disease	bannayan-riley-ruvalcaba syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:55) HP:0000872 \| Hashimoto thyroiditis HP:0004326 \| Cachexia HP:0007400 \| Irregular hyperpigmentation HP:0000343 \| Long philtrum HP:0003764 \| Nevus HP:0001324 \| Muscle weakness HP:0000189 \| Narrow palate HP:0005306 \| Capillary hemangiomas HP:0000098 \| Tall stature HP:0010784 \| Uterine neoplasm HP:0000445 \| Wide nose HP:0005692 \| Joint hyperflexibility HP:0004322 \| Short stature HP:0012032 \| Lipoma HP:0000347 \| Micrognathia HP:0004390 \| Hamartomatous polyposis HP:0100641 \| Neoplasm of the adrenal cortex HP:0011304 \| Broad thumb HP:0003196 \| Short nose HP:0000767 \| Pectus excavatum HP:0001250 \| Seizures HP:0001933 \| Subcutaneous hemorrhage HP:0001943 \| Hypoglycemia HP:0100026 \| Arteriovenous malformation HP:0001252 \| Muscular hypotonia HP:0002858 \| Meningioma HP:0003198 \| Myopathy HP:0002664 \| Neoplasm HP:0009023 \| Abdominal wall muscle weakness HP:0002007 \| Frontal bossing HP:0002890 \| Thyroid carcinoma HP:0002194 \| Delayed gross motor development HP:0007565 \| Multiple cafe-au-lait spots HP:0000256 \| Macrocephaly HP:0002167 \| Neurological speech impairment HP:0001004 \| Lymphedema HP:0000400 \| Macrotia HP:0002665 \| Lymphoma HP:0100761 \| Visceral angiomatosis HP:0000268 \| Dolichocephaly HP:0002650 \| Scoliosis HP:0200008 \| Intestinal polyposis HP:0001249 \| Intellectual disability HP:0001724 \| Aortic dilatation HP:0001681 \| Angina pectoris HP:0000463 \| Anteverted nares HP:0000965 \| Cutis marmorata HP:0002750 \| Delayed skeletal maturation HP:0100013 \| Neoplasm of the breast HP:0001009 \| Telangiectasia HP:0001482 \| Subcutaneous nodule HP:0002250 \| Abnormality of the large intestine HP:0003202 \| Skeletal muscle atrophy HP:0000587 \| Abnormality of the optic nerve HP:0002170 \| Intracranial hemorrhage
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0004947 \| Arteriovenous fistula \| 1

Disease ID	335
Disease	bannayan-riley-ruvalcaba syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909219	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	PTEN	10	87957915	C	T
rs121909221	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	PTEN	10	87952135	T	A
rs121909224	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	PTEN	10	87933147	C	G,T
rs121909227	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	PTEN	10	87957858	C	T
rs121909228	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	PTEN	10	87957984	G	T
rs121909231	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	PTEN	10	87961095	C	T
rs397515374	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	NA	NA	NA	NA	NA
rs587776670	NA	5728	PTEN	umls:C0265326	CLINVAR	NA	0.454386419	NA	PTEN	10	87952211	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.)

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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