PedAM

Pediatric Disease Annotations & Medicines


	roberts syndrome

Disease ID	256
Disease	roberts syndrome
Definition	A rare, autosomal recessive inherited syndrome caused by mutations in the ESCO2 gene. It is characterized by limb and facial abnormalities and slow growth. Intellectual impairment occurs in approximately half of the affected individuals.
Synonym	appelt-gerken-lenz syndrome hypomelia hypotrichosis facial haemangioma syndrome hypomelia hypotrichosis facial hemangioma syndrome hypomelia-hypotrichosis-facial haemangioma syndrome hypomelia-hypotrichosis-facial hemangioma syndrome long bone deficiencies associated with cleft lip-palate phocomelia-pseudothalidomide syndrome pseudothalidomide syndrome rbs robert syndrome robert's syndrome roberts tetraphocomelia syndrome roberts-sc phocomelia syndrome roberts-sc phocomelia syndrome (disorder) sc phocomelia syndrome sc pseudothalidomide syndrome sc syndrome syndrome robert tetraphocomelia-cleft palate syndrome
Orphanet	ORPHANET:3103
OMIM	OMIM:268300 OMIM:269000
DOID	DOID:5325 DOID:0050536
UMLS	C0392475
SNOMED-CT	SNOMEDCT_US_2016_09_01:48718006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ESCO2 \| 157570 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:33) 9183 \| ZW10 \| DISEASES 6198 \| RPS6KB1 \| DISEASES 2648 \| KAT2A \| DISEASES 8195 \| MKKS \| DISEASES 83990 \| BRIP1 \| DISEASES 23314 \| SATB2 \| DISEASES 8850 \| KAT2B \| DISEASES 114799 \| ESCO1 \| DISEASES 29777 \| ABT1 \| DISEASES 113130 \| CDCA5 \| DISEASES 25836 \| NIPBL \| DISEASES 25836 \| NIPBL \| DISEASES 2697 \| GJA1 \| DISEASES 170692 \| ADAMTS18 \| DISEASES 5885 \| RAD21 \| DISEASES 157570 \| ESCO2 \| DISEASES 157570 \| ESCO2 \| DISEASES 8243 \| SMC1A \| DISEASES 8243 \| SMC1A \| DISEASES 9939 \| RBM8A \| DISEASES 1978 \| EIF4EBP1 \| DISEASES 54820 \| NDE1 \| DISEASES 9126 \| SMC3 \| DISEASES 9126 \| SMC3 \| DISEASES 257 \| ALX3 \| DISEASES 51750 \| RTEL1 \| DISEASES 11130 \| ZWINT \| DISEASES 6194 \| RPS6 \| DISEASES 3619 \| INCENP \| DISEASES 174 \| AFP \| DISEASES 7702 \| ZNF143 \| DISEASES 1663 \| DDX11 \| DISEASES 55384 \| MEG3 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) ESCO2 \| 8p21.1

Disease ID	256
Disease	roberts syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:54) HP:0002817 \| Abnormality of the upper limb HP:0008897 \| Postnatal growth retardation HP:0009829 \| Phocomelia HP:0000387 \| Absent earlobe HP:0000470 \| Short neck HP:0007598 \| Bilateral single transverse palmar creases HP:0008846 \| Severe intrauterine growth retardation HP:0002984 \| Hypoplasia of the radius HP:0001263 \| Global developmental delay HP:0006101 \| Finger syndactyly HP:0009891 \| Underdeveloped supraorbital ridges HP:0006380 \| Knee flexion contracture HP:0006487 \| Bowing of the long bones HP:0000113 \| Polycystic kidney dysplasia HP:0000592 \| Blue sclerae HP:0001156 \| Brachydactyly syndrome HP:0000347 \| Micrognathia HP:0000520 \| Proptosis HP:0009466 \| Radial deviation of finger HP:0000501 \| Glaucoma HP:0001622 \| Premature birth HP:0005048 \| Synostosis of carpal bones HP:0000272 \| Malar flattening HP:0004209 \| Clinodactyly of the 5th finger HP:0001363 \| Craniosynostosis HP:0005876 \| Progressive flexion contractures HP:0009601 \| Aplasia/Hypoplasia of the thumb HP:0009623 \| Proximal placement of thumb HP:0001873 \| Thrombocytopenia HP:0000316 \| Hypertelorism HP:0002564 \| Malformation of the heart and great vessels HP:0000028 \| Cryptorchidism HP:0008572 \| External ear malformation HP:0008070 \| Sparse hair HP:0000040 \| Long penis HP:0000518 \| Cataract HP:0001852 \| Sandal gap HP:0000639 \| Nystagmus HP:0001561 \| Polyhydramnios HP:0002974 \| Radioulnar synostosis HP:0009943 \| Complete duplication of thumb phalanx HP:0006443 \| Patellar aplasia HP:0000204 \| Cleft upper lip HP:0000252 \| Microcephaly HP:0001249 \| Intellectual disability HP:0000175 \| Cleft palate HP:0001239 \| Wrist flexion contracture HP:0000430 \| Underdeveloped nasal alae HP:0000218 \| High palate HP:0000248 \| Brachycephaly HP:0000568 \| Microphthalmia HP:0005011 \| Mesomelic arm shortening HP:0007452 \| Midface capillary hemangioma HP:0000057 \| Clitoromegaly
Text Mined Phenotype	(Waiting for update.)

Disease ID	256
Disease	roberts syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1959589 \| cavernous angioma C1442871 \| craniosynostosis C0410528 \| skeletal dysplasia C0376293 \| stigmata C0035412 \| rhabdomyosarcoma
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:28)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs146312522	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27788890	G	A
rs797045565	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27780206	A	TTTTAT
rs797045566	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27780223	-	A
rs80359844	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27776560	AT	-
rs80359845	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27776602	GAGA	-
rs80359846	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27776615	AAAGA	-
rs80359847	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27776616	AA	-
rs80359848	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27776725	-	A
rs80359849	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27776813	C	T
rs80359850	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27776912	C	T
rs80359851	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27777053	GT	-
rs80359852	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27777059	-	A,G
rs80359853	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27777068	-	A
rs80359854	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27777068	A	-
rs80359855	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27777072	TT	-
rs80359856	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27780187	ACAG	-
rs80359857	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27780191	AG	-
rs80359858	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27780269	TAAG	-
rs80359859	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27787982	-	A,G
rs80359861	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27788003	G	A
rs80359862	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27788840	A	G
rs80359863	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27788979	G	C
rs80359864	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27791968	G	A
rs80359865	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27792650	G	A
rs80359866	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27792775	AG	-
rs80359867	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27799640	-	T,TG
rs80359868	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27799658	T	G
rs80359869	NA	157570	ESCO2	umls:C0392475	CLINVAR	NA	0.483257302	NA	ESCO2	8	27803304	A	G

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:0008056	Aplasia/Hypoplasia affecting the eye	MP:0000662	abnormal branching of the mammary ductal tree;HP:0004209	Clinodactyly of the 5th finger

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:0008056	Aplasia/Hypoplasia affecting the eye

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.)