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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Agenesis of Corpus Callosum (D061085)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Hernias, Diaphragmatic, Congenital (D065630)
Parent Node: Myopia (D009216)
Parent Node: Proteinuria (D011507)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Donnai-Barrow syndrome (C536390)
Child Nodes:
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3442

Name:

Donnai-Barrow syndrome

Definition:

Alternative IDs:

OMIM:222448

ParentIDs:

TreeNumbers:

C09.218.458.341.887/C536390 |C10.500.034/C536390 |C10.597.751.418.341.887/C536390 |C11.744.636/C536390 |C12.777.419.815/C536390 |C12.777.934.734/C536390 |C13.351.968.419.815/C536390 |C13.351.968.934.734/C536390 |C16.131.433/C536390 |C16.131.666.034/C536390 |C16.32

Synonyms:

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 |Diaphra

Slim Mappings:

Reference:

MedGen: C536390
MeSH: C536390
OMIM: 222448;

Genes: LRP2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040284
3	HP:0000813	Bicornuate uterus	HP:0040283
4	HP:0000455	Broad nasal tip	HP:0040281
5	HP:0000518	Cataract	HP:0040284
6	HP:0000776	Congenital diaphragmatic hernia	HP:0040284
7	HP:0005280	Depressed nasal bridge	HP:0040281
8	HP:0009110	Diaphragmatic eventration	HP:0040284
9	HP:0000494	Downslanted palpebral fissures	HP:0040284
10	HP:0001263	Global developmental delay	HP:0040284
11	HP:0011003	High myopia	HP:0040284
12	HP:0000316	Hypertelorism	HP:0040284
13	HP:0007676	Hypoplasia of the iris	HP:0040283
14	HP:0100876	Infra-orbital crease	HP:0040281
15	HP:0002566	Intestinal malrotation	HP:0040284
16	HP:0000612	Iris coloboma	HP:0040284
17	HP:0003126	Low-molecular-weight proteinuria	HP:0040284
18	HP:0000369	Low-set ears	HP:0040282
19	HP:0000256	Macrocephaly
20	HP:0000272	Malar flattening
21	HP:0011800	Midface retrusion
22	HP:0005574	Non-acidotic proximal tubulopathy	HP:0040284
23	HP:0001539	Omphalocele	HP:0040284
24	HP:0001338	Partial agenesis of the corpus callosum
25	HP:0000358	Posteriorly rotated ears	HP:0040284
26	HP:0000529	Progressive visual loss	HP:0040282
27	HP:0000520	Proptosis	HP:0040281
28	HP:0000541	Retinal detachment	HP:0040282
29	HP:0000556	Retinal dystrophy	HP:0040282
30	HP:0001250	Seizure	HP:0040283
31	HP:0000407	Sensorineural hearing impairment	HP:0040284
32	HP:0003196	Short nose	HP:0040284
33	HP:0001537	Umbilical hernia	HP:0040284
34	HP:0001629	Ventricular septal defect	HP:0040283
35	HP:0000260	Wide anterior fontanel	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004525.2(LRP2):c.13139dupC (p.Cys4381Metfs)	4036	LRP2	Pathogenic	80338754	RCV000020604;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	169997025	169997025	NM_004525.2:c.13139dupC	NP_004516.2:p.Cys4381Metfs	NC_000002.11:g.169997025dupG	-	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.13139delC (p.Pro4380Hisfs)	4036	LRP2	Likely pathogenic	764880181	RCV000192936;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	169997025	169997025	NM_004525.2:c.13139delC	NP_004516.2:p.Pro4380Hisfs	NC_000002.11:g.169997025delG	-	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.12437delG (p.Gly4146Glufs)	4036	LRP2	Pathogenic	786205122	RCV000033107;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170009333	170009333	NM_004525.2:c.12437delG	NP_004516.2:p.Gly4146Glufs	NC_000002.11:g.170009333delC	OMIM Allelic Variant:600073.0009	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.11469_11472delTTTG (p.Cys3823Trpfs)	4036	LRP2	Pathogenic	80338753	RCV000020603;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170026237	170026240	NM_004525.2:c.11469_11472delTTTG	NP_004516.2:p.Cys3823Trpfs	NC_000002.11:g.170026237_170026240delCAAA	-	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.10195C>T (p.Arg3399Ter)	4036	LRP2	Pathogenic	80338752	RCV000010063;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170034511	170034511	NM_004525.2:c.10195C>T	NP_004516.2:p.Arg3399Ter	NC_000002.11:g.170034511G>A	OMIM Allelic Variant:600073.0006	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.9484_9485delGT (p.Val3162Leufs)	4036	LRP2	Pathogenic	80338751	RCV000010059;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170042373	170042374	NM_004525.2:c.9484_9485delGT	NP_004516.2:p.Val3162Leufs	NC_000002.11:g.170042373_170042374delAC	OMIM Allelic Variant:600073.0002	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.9358_9359delAG (p.Ser3120Trpfs)	4036	LRP2	Pathogenic	80338750	RCV000020606;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170042499	170042500	NM_004525.2:c.9358_9359delAG	NP_004516.2:p.Ser3120Trpfs	NC_000002.11:g.170042499_170042500delCT	-	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.8516_8519delTTTA (p.Tyr2840Cysfs)	4036	LRP2	Pathogenic	80338749	RCV000010061;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170055355	170055358	NM_004525.2:c.8516_8519delTTTA	NP_004516.2:p.Tyr2840Cysfs	NC_000002.11:g.170055355_170055358delTAAA	OMIM Allelic Variant:600073.0004	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.8452+1G>A	4036	LRP2	Pathogenic	80338748	RCV000010062;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170058137	170058137	NM_004525.2:c.8452+1G>A		NC_000002.11:g.170058137C>T	OMIM Allelic Variant:600073.0005	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.7564T>C (p.Tyr2522His)	4036	LRP2	Pathogenic	80338747	RCV000010058;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170062140	170062140	NM_004525.2:c.7564T>C	NP_004516.2:p.Tyr2522His	NC_000002.11:g.170062140A>G	OMIM Allelic Variant:600073.0001	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.6160G>A (p.Asp2054Asn)	4036	LRP2	Pathogenic	138269726	RCV000033108;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170068598	170068598	NM_004525.2:c.6160G>A	NP_004516.2:p.Asp2054Asn	NC_000002.11:g.170068598C>T	OMIM Allelic Variant:600073.0010	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.2640-1G>A	4036	LRP2	Pathogenic	587776717	RCV000010060;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170112747	170112747	NM_004525.2:c.2640-1G>A		2:g.170112747C>T	OMIM Allelic Variant:600073.0003	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.1341+2T>G	4036	LRP2	Pathogenic	80338745	RCV000010064;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170136858	170136858	NM_004525.2:c.1341+2T>G		NC_000002.11:g.170136858A>C	OMIM Allelic Variant:600073.0007	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.1093C>T (p.Arg365Ter)	4036	LRP2	Pathogenic	80338744	RCV000010065;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170139461	170139461	NM_004525.2:c.1093C>T	NP_004516.2:p.Arg365Ter	NC_000002.11:g.170139461G>A	OMIM Allelic Variant:600073.0008	C1857277 222448 Donnai Barrow syndrome
NM_004525.2(LRP2):c.770-2A>G	4036	LRP2	Pathogenic	80338743	RCV000020605;	N	MedGen:C1857277,OMIM:222448,ORPHA:2143	2	170147509	170147509	NM_004525.2:c.770-2A>G		NC_000002.11:g.170147509T>C	-	C1857277 222448 Donnai Barrow syndrome