PedAM

Pediatric Disease Annotations & Medicines


	short syndrome

Disease ID	543
Disease	short syndrome
Definition	SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:.(S)= short stature.(H)= hyperextensibility of joints and/or hernia (inguinal).(O)= ocular depression.(R) =Rieger anomaly.(T) =teething delay.Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. - NORD Reference: NORD
Synonym	lipodystrophy, partial, with rieger anomaly and short stature lipodystrophy, partial, with rieger anomaly, and short stature short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay syndrome short
Orphanet	ORPHANET:3163
OMIM	OMIM:269880
UMLS	C0878684
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0023787 \| lipodystrophy \| 2
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PIK3R1 \| 5295 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) PIK3R1 \| 5q13.1

Disease ID	543
Disease	short syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:37) HP:0000431 \| Broad nasal root HP:0000668 \| Failure of development of between one and six teeth HP:0000831 \| Insulin-resistant diabetes mellitus HP:0003561 \| Birth length <3rd percentile HP:0010580 \| Large epiphyses HP:0100678 \| Premature skin wrinkling HP:0000684 \| Delayed eruption of teeth HP:0011220 \| Prominent forehead HP:0000545 \| Near sightedness HP:0000501 \| Glaucoma HP:0002715 \| Abnormality of the immune system HP:0000407 \| sensorineural hearing loss HP:0000490 \| Sunken eyes HP:0000485 \| Enlarged cornea HP:0000689 \| Misalignment of upper and lower dental arches HP:0001518 \| Small for gestational age HP:0000506 \| Telecanthus HP:0001511 \| Prenatal onset growth retardation HP:0030084 \| Clinodactyly HP:0100578 \| Lipoatrophy HP:0002750 \| Delayed bone maturation HP:0000347 \| Hypoplasia of mandible HP:0000833 \| Glucose intolerance HP:0000518 \| Cataract HP:0000023 \| Inguinal hernia HP:0010751 \| Gelasin of chin HP:0002007 \| Frontal protruberance HP:0000750 \| Late-onset speech development HP:0000400 \| Large ears HP:0009466 \| Radially deviated phalanges HP:0001388 \| Joint laxity HP:0003074 \| High blood glucose HP:0000558 \| Rieger anomaly HP:0000430 \| Nasal cartilage hypoplasia HP:0000325 \| Triangular face HP:0009125 \| Lipodystrophy HP:0000963 \| Thin skin
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0009125 \| Lipodystrophy \| 2 HP:0004322 \| Stature below 3rd percentile \| 1

Disease ID	543
Disease	short 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:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs397514046	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68295194	ATT	-
rs397514047	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68294575	G	A
rs397515453	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68296301	C	T
rs398122384	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68296299	-	T
rs398122385	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68296262	-	C
rs515726149	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68296248	G	A
rs515726150	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68296262	AA	-
rs515726151	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68296327	T	G
rs587784325	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68293187	C	T
rs797045063	NA	5295	PIK3R1	umls:C0878684	CLINVAR	NA	0.361085767	NA	PIK3R1	5	68294570	T	C

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:0000682	Abnormality of dental enamel	MP:0002649	abnormal enamel rod pattern;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:0000682	Abnormality of dental enamel

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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