PedAM

Pediatric Disease Annotations & Medicines


	fraser syndrome

Disease ID	204
Disease	fraser syndrome
Definition	Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
Synonym	cryptophthalmos syndactyly syndrome cryptophthalmos syndrome cryptophthalmos syndrome (disorder) cryptophthalmos with other malformations cryptophthalmos, defect of auricle and genital anomaly cryptophthalmos-syndactyly syndrome cryptophthalmos-syndactyly syndromes fraser syndrome (disorder) fraser syndrome [disease/finding] fraser's syndrome syndrome, fraser
Orphanet	ORPHANET:2052
OMIM	OMIM:219000
UMLS	C0265233
MeSH	D058497
SNOMED-CT	SNOMEDCT_US_2016_09_01:204102004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0158699 \| renal agenesis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) FREM2 \| 341640 \| CLINVAR;CTD_human;ORPHANET;UNIPROT GRIP1 \| 23426 \| CLINVAR;ORPHANET FRAS1 \| 80144 \| CLINVAR;CTD_human;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 3675 \| ITGA3 \| DISEASES 6583 \| SLC22A4 \| DISEASES 3398 \| ID2 \| DISEASES 4488 \| MSX2 \| DISEASES 652 \| BMP4 \| DISEASES 3237 \| HOXD11 \| DISEASES 10220 \| GDF11 \| DISEASES 2201 \| FBN2 \| DISEASES 2255 \| FGF10 \| DISEASES 80144 \| FRAS1 \| DISEASES 5045 \| FURIN \| DISEASES 83872 \| HMCN1 \| DISEASES 341640 \| FREM2 \| DISEASES 170692 \| ADAMTS18 \| DISEASES 9965 \| FGF19 \| DISEASES 340706 \| VWA2 \| DISEASES 26585 \| GREM1 \| DISEASES 10736 \| SIX2 \| DISEASES 3265 \| HRAS \| DISEASES 147912 \| SIX5 \| DISEASES 166752 \| FREM3 \| DISEASES 2138 \| EYA1 \| DISEASES 7827 \| NPHS2 \| DISEASES 257 \| ALX3 \| DISEASES 8516 \| ITGA8 \| DISEASES 3980 \| LIG3 \| DISEASES 4868 \| NPHS1 \| DISEASES 158326 \| FREM1 \| DISEASES 23426 \| GRIP1 \| DISEASES 256158 \| HMCN2 \| DISEASES 255743 \| NPNT \| DISEASES 2668 \| GDNF \| DISEASES 56034 \| PDGFC \| DISEASES 64220 \| STRA6 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) GRIP1 \| 12q14.3 FREM2 \| 13q13.3 FRAS1 \| 4q21.21

Disease ID	204
Disease	fraser syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:58) HP:0002475 \| Myelomeningocele HP:0003183 \| Wide pubic symphysis HP:0001539 \| Omphalocele HP:0002101 \| Abnormal lung lobation HP:0010297 \| Bifid tongue HP:0001126 \| Cryptophthalmos HP:0000689 \| Dental malocclusion HP:0000068 \| Urethral atresia HP:0002025 \| Anal stenosis HP:0006101 \| Finger syndactyly HP:0004397 \| Ectopic anus HP:0000142 \| Abnormality of the vagina HP:0002089 \| Pulmonary hypoplasia HP:0002777 \| Tracheal stenosis HP:0000089 \| Renal hypoplasia HP:0000678 \| Dental crowding HP:0000813 \| Bicornuate uterus HP:0000047 \| Hypospadias HP:0003422 \| Vertebral segmentation defect HP:0000003 \| Multicystic kidney dysplasia HP:0002023 \| Anal atresia HP:0000618 \| Blindness HP:0004112 \| Midline nasal groove HP:0000431 \| Wide nasal bridge HP:0001362 \| Skull defect HP:0000202 \| Oral cleft HP:0000405 \| Conductive hearing impairment HP:0001770 \| Toe syndactyly HP:0001607 \| Subglottic stenosis HP:0000316 \| Hypertelorism HP:0002084 \| Encephalocele HP:0002564 \| Malformation of the heart and great vessels HP:0007925 \| Lacrimal duct aplasia HP:0005280 \| Depressed nasal bridge HP:0000046 \| Scrotal hypoplasia HP:0000028 \| Cryptorchidism HP:0008572 \| External ear malformation HP:0010720 \| Abnormal hair pattern HP:0008736 \| Hypoplasia of penis HP:0003191 \| Cleft ala nasi HP:0000062 \| Ambiguous genitalia HP:0000368 \| Low-set, posteriorly rotated ears HP:0000204 \| Cleft upper lip HP:0007993 \| Malformed lacrimal ducts HP:0000252 \| Microcephaly HP:0000370 \| Abnormality of the middle ear HP:0001249 \| Intellectual disability HP:0001537 \| Umbilical hernia HP:0010458 \| Female pseudohermaphroditism HP:0000148 \| Vaginal atresia HP:0000413 \| Atresia of the external auditory canal HP:0000528 \| Anophthalmia HP:0000430 \| Underdeveloped nasal alae HP:0000218 \| High palate HP:0001522 \| Death in infancy HP:0001602 \| Laryngeal stenosis HP:0000568 \| Microphthalmia HP:0006610 \| Wide intermamillary distance
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0001126 \| Cryptophthalmos \| 3 HP:0000528 \| Absence of eyeballs \| 1 HP:0005950 \| Laryngeal webs \| 1 HP:0010958 \| Bilateral renal agenesis \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0000589 \| Ocular coloboma \| 1 HP:0001159 \| Webbed fingers or toes \| 1

Disease ID	204
Disease	fraser 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:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs120074156	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78481962	C	T
rs120074157	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78496859	C	T
rs120074158	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78387525	C	T
rs120074159	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78407804	C	G
rs121434355	NA	341640	FREM2	umls:C0265233	CLINVAR	NA	0.563528744	NA	FREM2	13	38784709	G	A
rs121434356	NA	341640	FREM2	umls:C0265233	CLINVAR	NA	0.563528744	NA	FREM2	13	38784703	G	A
rs377046630	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78252452	C	T
rs397514485	NA	23426	GRIP1	umls:C0265233	CLINVAR	NA	0.320814326	NA	GRIP1	12	66392676	C	G
rs397514486	NA	23426	GRIP1	umls:C0265233	CLINVAR	NA	0.320814326	NA	GRIP1	12	66455423	TCTT	-
rs730882178	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78438954	TTCTCT	-
rs730882179	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78464518	-	GG
rs730882180	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78472331	G	T
rs794727195	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78317479	G	-
rs794727365	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78364055	G	A
rs797044696	NA	80144	FRAS1	umls:C0265233	CLINVAR	NA	0.444071628	NA	FRAS1	4	78379803	-	T

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:0000405	Conductive hearing impairment	MP:0004749	nonsyndromic hearing loss;HP:0001627	Abnormal heart morphology

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002777	Tracheal stenosis	MP:0010904	abnormal alveolar pore morphology;HP:0000405	Conductive hearing 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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