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	donnai-barrow syndrome

Disease ID	1522
Disease	donnai-barrow syndrome
Synonym	dbs-foar syndrome dbs/foar syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-corpus callosum agenesis diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) donnai barrow syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome foar syndrome
Orphanet	ORPHANET:2143
OMIM	OMIM:222448
UMLS	C1857277
SNOMED-CT	SNOMEDCT_US_2016_09_01:702418009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0033687 \| proteinuria \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4036 \| LRP2 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) LRP2 \| 2q31.1

Disease ID	1522
Disease	donnai-barrow syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:28) HP:0001263 \| Global developmental delay HP:0000520 \| Proptosis HP:0003196 \| Short nose HP:0000541 \| Retinal detachment HP:0000545 \| Myopia HP:0001629 \| Ventricular septal defect HP:0000358 \| Posteriorly rotated ears HP:0005280 \| Depressed nasal bridge HP:0000093 \| Proteinuria HP:0000337 \| Broad forehead HP:0000130 \| Abnormality of the uterus HP:0007370 \| Aplasia/Hypoplasia of the corpus callosum HP:0001537 \| Umbilical hernia HP:0000316 \| Hypertelorism HP:0000407 \| Sensorineural hearing impairment HP:0000612 \| Iris coloboma HP:0000494 \| Downslanted palpebral fissures HP:0001250 \| Seizures HP:0000349 \| Widow's peak HP:0000256 \| Macrocephaly HP:0000260 \| Wide anterior fontanel HP:0001539 \| Omphalocele HP:0000813 \| Bicornuate uterus HP:0000529 \| Progressive visual loss HP:0001249 \| Intellectual disability HP:0000556 \| Retinal dystrophy HP:0002566 \| Intestinal malrotation HP:0000776 \| Congenital diaphragmatic hernia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000609 \| Optic nerve hypoplasia \| 1 HP:0000093 \| Proteinuria \| 1 HP:0100716 \| Autoagression \| 1

Disease ID	1522
Disease	donnai-barrow syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

Text Mining Genotype(Total 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
rs138269726	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169212088	C	T
rs587776717	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169256237	C	T
rs764880181	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169140515	G	-
rs786205122	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169152823	C	-
rs80338743	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169290999	T	C
rs80338744	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169282951	G	A
rs80338745	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169280348	A	C
rs80338747	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169205630	A	G
rs80338748	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169201627	C	T
rs80338749	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169198845	TAAA	-
rs80338750	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169185989	CT	-
rs80338751	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169185863	AC	-
rs80338752	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169178001	G	T,A
rs80338753	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169169727	CAAA	-
rs80338754	NA	4036	LRP2	umls:C1857277	CLINVAR	NA	0.561085767	NA	LRP2	2	169140514	-	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:14)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000529	Progressive visual loss	MP:0010749	absent visual evoked potential	absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness
HP:0000776	Congenital diaphragmatic hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0000407	Sensorineural hearing impairment	MP:0006330	syndromic hearing impairment	hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0003196	Short nose	MP:0002233	abnormal nose morphology	any structural anomaly of the organ that is specialized for smell and is part of the respiratory system
HP:0000541	Retinal detachment	MP:0003099	retinal detachment	detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0001537	Umbilical hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0000813	Bicornuate uterus	MP:0003558	absent uterus	absence of the female muscular organ of gestation
HP:0001629	Ventricular septal defect	MP:0011667	double outlet right ventricle with atrioventricular septal defect	a form of DORV in which there is also a complete atrioventricular canal
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
HP:0000260	Wide anterior fontanel	MP:0012159	absent anterior visceral endoderm	absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue
HP:0005280	Depressed nasal bridge	MP:0013582	abnormal lateral nasal gland morphology	any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d
HP:0000130	Abnormality of the uterus	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0000612	Iris coloboma	MP:0005262	coloboma	anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation

Mapped by homologous gene(Total Items:28)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000556	Retinal dystrophy	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000529	Progressive visual loss	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0002566	Intestinal malrotation	MP:0014155	absent olfactory epithelium	absence of the epithelial cells that line the interior of the nose
HP:0003196	Short nose	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001629	Ventricular septal defect	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000316	Hypertelorism	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000407	Sensorineural hearing impairment	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000776	Congenital diaphragmatic hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000093	Proteinuria	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001539	Omphalocele	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0000541	Retinal detachment	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000358	Posteriorly rotated ears	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000337	Broad forehead	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0005280	Depressed nasal bridge	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000813	Bicornuate uterus	MP:0013545	cleft hard palate	cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones
HP:0000612	Iris coloboma	MP:0013791	absent external nares	absence or failure to form both of the anterior openings to the nasal cavity
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000520	Proptosis	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000349	Widow's peak	MP:0014117	increased pancreatic beta cell apoptosis	increase in the number of pancreatic beta cells undergoing programmed cell death
HP:0000494	Downslanted palpebral fissures	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000260	Wide anterior fontanel	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001537	Umbilical hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000545	Myopia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000130	Abnormality of the uterus	MP:0013508	increased granulosa cell apoptosis	increase in the timing or the number of granulsa cells undergoing programmed cell death
HP:0000256	Macrocephaly	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).

Disease ID	1522
Disease	donnai-barrow syndrome
Case	(Waiting for update.)