MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Eye Diseases (D005128)
Parent Node: Intellectual Disability (D008607)
Parent Node: Obesity (D009765)
Parent Node: Penile Diseases (D010409)
..Starting node ..MORM syndrome (C536984)
Child Nodes:
Sister Nodes:
..Balanitis (D001446) 1
..Hypospadias (D007021) 17
..MORM syndrome (C536984)
..Penile Induration (D010411)
..Penile Neoplasms (D010412)
..Phimosis (D010688) 2
..Priapism (D011317) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8175

Name:

MORM syndrome

Definition:

Alternative IDs:

OMIM:610156

ParentIDs:

MESH:D000015|MESH:D005128|MESH:D008607|MESH:D009765|MESH:D010409

TreeNumbers:

C10.597.606.360/C536984 |C11/C536984 |C12.294.494/C536984 |C16.131.077/C536984 |C18.654.726.500/C536984 |C23.888.144.699.500/C536984 |C23.888.592.604.646/C536984 |F03.625.539/C536984

Synonyms:

Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis |Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis |MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME |MORMS |MORM SYNDROME

Slim Mappings:

Reference:

MedGen: C536984
MeSH: C536984
OMIM: 610156;
MSeqDR :
Genes: INPP5E;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008915	Childhood-onset truncal obesity
3	HP:0000518	Cataract NAMDC: Cataracts
4	HP:0000750	Delayed speech and language development NAMDC: Delayed language
5	HP:0002342	Intellectual disability, moderate
6	HP:0000054	Micropenis
7	HP:0000556	Retinal dystrophy	Congenital onset
8	HP:0001956	Truncal obesity	Childhood onset
9	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter)	56623	INPP5E	Pathogenic	121918127	RCV000000427;	N	MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139324183	139324183	9:g.139324183G>A	ClinGen:CA114238,OMIM:613037.0001	C1857802 610156 MORM syndrome;
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)	56623	INPP5E	Benign	10870182	RCV000117269\|RCV000360862\|RCV001095307\|RCV001730524;	N	MedGen:CN169374\|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139324740	139324740	9:g.139324740C>T	ClinGen:CA153164	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp)	56623	INPP5E	Uncertain significance	374152018	RCV001957700\|RCV002484684;	N	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300; MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139326291	139326291	139326291	-
NM_019892.6(INPP5E):c.1521C>T (p.His507=)	56623	INPP5E	Benign	10870188	RCV000117267\|RCV000262680\|RCV001095321\|RCV001730523;	N	MedGen:CN169374\|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139326304	139326304	9:g.139326304G>A	ClinGen:CA153160	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)	56623	INPP5E	Benign	10870194	RCV000117265\|RCV000291204\|RCV001095352\|RCV001730522\|RCV001705835;	N	MedGen:CN169374\|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858\|MedGen:C3661900	9	139327034	139327034	9:g.139327034A>G	ClinGen:CA153156	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)	56623	INPP5E	Benign	10781542	RCV000117264\|RCV000400377\|RCV001095353\|RCV001705834\|RCV001730521;	N	MedGen:CN169374\|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:C3661900\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139327439	139327439	9:g.139327439A>G	ClinGen:CA153154	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)	56623	INPP5E	Benign	10870199	RCV000117276\|RCV000297520\|RCV001095311\|RCV001730525;	N	MedGen:CN169374\|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139328551	139328551	9:g.139328551T>C	ClinGen:CA153177	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.813-9C>T	56623	INPP5E	Likely benign	771055995	RCV001424657\|RCV002476750;	N	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300; MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139329324	139329324	139329324	-
NM_019892.6(INPP5E):c.812+7_812+10del	56623	INPP5E	Benign	5901103	RCV000243300\|RCV000311422\|RCV001730636\|RCV001722336\|RCV001730635;	N	MedGen:CN169374\|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:C3661900\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858	9	139333050	139333053	NC_000009.11:g.139333050CCCT[1]	ClinGen:CA5337073	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.636C>A (p.Val212=)	56623	INPP5E	Benign/Likely benign	34071122	RCV000117275\|RCV000271552\|RCV001095325\|RCV002498514;	N	MedGen:CN169374\|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858; MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333236	139333236	9:g.139333236G>T	ClinGen:CA153175	C0431399 Joubert syndrome;

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