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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: Abnormalities, Multiple (D000015)
Parent Node: Cataract (D002386)
Parent Node: Hypogonadism (D007006)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Optic Atrophy (D009896)
..Starting node ..Warburg Sjo Fledelius syndrome (C536681)
Child Nodes:
Sister Nodes:
..Al Gazali Khidr Prem Chandran syndrome (C535616)
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Behr syndrome (C537669)
..CAPOS syndrome (C535351)
..Costeff optic atrophy syndrome (C535311)
..Jensen syndrome (C537568)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mohr-Tranebjaerg syndrome (C535808)
..Optic Atrophies, Hereditary (D015418) 30
..OPTIC ATROPHY 2 (OMIM:311050)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Optic atrophy, X-linked (C537125)
..PEHO syndrome (C536317)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Ataxia (C564815)
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
..Treft Sanborn Carey syndrome (C536544)
..Warburg Sjo Fledelius syndrome (C536681)
..Wolfram Syndrome 2 (C565733)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11700

Name:

Warburg Sjo Fledelius syndrome

Definition:

Alternative IDs:

OMIM:600118

ParentIDs:

TreeNumbers:

C05.660.207.620/C536681 |C10.292.700.225/C536681 |C10.500.507.400.500/C536681 |C10.597.606.643/C536681 |C11.510.245/C536681 |C11.640.451/C536681 |C16.131.077/C536681 |C16.131.621.207.620/C536681 |C16.131.666.507.400.500/C536681 |C19.391.482/C536681 |C23.888.592.60

Synonyms:

Micro Syndrome |WARBM1 |Warburg micro syndrome |WARBURG MICRO SYNDROME 1

Slim Mappings:

Reference:

MedGen: C536681
MeSH: C536681
OMIM: 600118;

Genes: RAB3GAP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0001321	Cerebellar hypoplasia
4	HP:0002059	Cerebral atrophy
5	HP:0000028	Cryptorchidism
6	HP:0000490	Deeply set eye
7	HP:0000519	Developmental cataract
8	HP:0003241	External genital hypoplasia
9	HP:0002219	Facial hypertrichosis
10	HP:0001508	Failure to thrive
11	HP:0001290	Generalized hypotonia
12	HP:0001347	Hyperreflexia
13	HP:0002079	Hypoplasia of the corpus callosum
14	HP:0001252	Hypotonia
15	HP:0001249	Intellectual disability
16	HP:0001382	Joint hypermobility	HP:0040283
17	HP:0002751	Kyphoscoliosis
18	HP:0000400	Macrotia
19	HP:0000252	Microcephaly
20	HP:0000482	Microcornea
21	HP:0000347	Micrognathia
22	HP:0000568	Microphthalmia
23	HP:0000648	Optic atrophy
24	HP:0000939	Osteoporosis
25	HP:0001845	Overlapping toe	HP:0040283
26	HP:0000508	Ptosis
27	HP:0004322	Short stature
28	HP:0001264	Spastic diplegia

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_001172435.1(RAB3GAP1):c.52A>C (p.Thr18Pro)	22930	RAB3GAP1	Pathogenic	587777154	RCV000087135;	N	MedGen:C1838625,OMIM:600118	2	135810033	135810033	NM_001172435.1:c.52A>C	NP_001165906.1:p.Thr18Pro	2:g.135810033A>C	OMIM Allelic Variant:602536.0010	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.71A>T (p.Glu24Val)	22930	RAB3GAP1	Pathogenic	587777155	RCV000087136;	N	MedGen:C1838625,OMIM:600118	2	135810052	135810052	NM_001172435.1:c.71A>T	NP_001165906.1:p.Glu24Val	2:g.135810052A>T	OMIM Allelic Variant:602536.0011	C1838625 600118 Warburg micro syndrome 1
NM_012233.2(RAB3GAP1):c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs)	22930	RAB3GAP1	Pathogenic	730882184	RCV000007478;	N	MedGen:C1838625,OMIM:600118	2	135848681	135848687	NM_012233.2:c.264_270delAAAGGATinsTTATTA	NP_036365.1:p.Lys89Tyrfs	NC_000002.11:g.135848681_135848687delAAAGGATinsTTATTA	OMIM Allelic Variant:602536.0007	C1838625 600118 Warburg micro syndrome 1
NM_012233.2(RAB3GAP1):c.649-2A>G	22930	RAB3GAP1	Pathogenic	730882183	RCV000007473;	N	MedGen:C1838625,OMIM:600118	2	135878387	135878387	NM_012233.2:c.649-2A>G		NC_000002.11:g.135878387A>G	OMIM Allelic Variant:602536.0002	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.748+1G>A	22930	RAB3GAP1	Pathogenic	587776651	RCV000007474;	N	MedGen:C1838625,OMIM:600118	2	135878489	135878489	NM_001172435.1:c.748+1G>A		2:g.135878489G>A	OMIM Allelic Variant:602536.0003	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.899+1G>A	22930	RAB3GAP1	Pathogenic	587777152	RCV000087133;	N	MedGen:C1838625,OMIM:600118	2	135883820	135883820	NM_001172435.1:c.899+1G>A		NC_000002.11:g.135883820G>A	OMIM Allelic Variant:602536.0008	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.1410C>A (p.Tyr470Ter)	22930	RAB3GAP1	Pathogenic	267606996	RCV000007477;	N	MedGen:C1838625,OMIM:600118	2	135891514	135891514	NM_001172435.1:c.1410C>A	NP_001165906.1:p.Tyr470Ter	NC_000002.11:g.135891514C>A	OMIM Allelic Variant:602536.0006	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.1734G>A (p.Trp578Ter)	22930	RAB3GAP1	Pathogenic	137853053	RCV000007476;	N	MedGen:C1838625,OMIM:600118	2	135893313	135893313	NM_001172435.1:c.1734G>A	NP_001165906.1:p.Trp578Ter	NC_000002.11:g.135893313G>A	OMIM Allelic Variant:602536.0005	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.2011C>T (p.Arg671Ter)	22930	RAB3GAP1	Pathogenic	137853052	RCV000007475;	N	MedGen:C1838625,OMIM:600118	2	135908026	135908026	NM_001172435.1:c.2011C>T	NP_001165906.1:p.Arg671Ter	NC_000002.11:g.135908026C>T	OMIM Allelic Variant:602536.0004	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.2037_2055dup19 (p.Phe686Alafs)	22930	RAB3GAP1	Pathogenic	587777153	RCV000087134;	N	MedGen:C1838625,OMIM:600118	2	135908052	135908070	NM_001172435.1:c.2037_2055dup19	NP_001165906.1:p.Phe686Alafs		OMIM Allelic Variant:602536.0009	C1838625 600118 Warburg micro syndrome 1
NM_001172435.1(RAB3GAP1):c.2343_2347delACCTT (p.Pro782Cysfs)	22930	RAB3GAP1	Pathogenic	794727324	RCV000176089;	N	MedGen:C1838625,OMIM:600118	2	135920178	135920182	NM_001172435.1:c.2343_2347delACCTT	NP_001165906.1:p.Pro782Cysfs	NC_000002.11:g.135920178_135920182delACCTT	-	C1838625 600118 Warburg micro syndrome 1
NM_012233.2(RAB3GAP1):c.2642T>G (p.Leu881Ter)	22930	RAB3GAP1	Pathogenic	797045905	RCV000194301;	N	MedGen:C1838625,OMIM:600118	2	135922199	135922199	NM_012233.2:c.2642T>G	NP_036365.1:p.Leu881Ter	NC_000002.11:g.135922199T>G	-	C1838625 600118 Warburg micro syndrome 1
NM_012233.2(RAB3GAP1):c.2801delC (p.Pro934Leufs)	22930	RAB3GAP1	Pathogenic	730882182	RCV000007472;	N	MedGen:C1838625,OMIM:600118	2	135926206	135926206	NM_012233.2:c.2801delC	NP_036365.1:p.Pro934Leufs	NC_000002.11:g.135926206delC	OMIM Allelic Variant:602536.0001	C1838625 600118 Warburg micro syndrome 1