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: Pigmentation Disorders (D010859)
Parent Node: Skin Abnormalities (D012868)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Incontinentia Pigmenti (D007184)
Child Nodes:
........HYPOMELANOSIS OF ITO (OMIM:300337)
........Incontinentia pigmenti, familial male-lethal type (C531716)
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..Dowling-Degos Disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144 C:1
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6328

Name:

Incontinentia Pigmenti

Definition:

A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.

Alternative IDs:

DO:DOID:12305|OMIM:308300

ParentIDs:

MESH:D000015|MESH:D010859|MESH:D012868|MESH:D012873

TreeNumbers:

C16.131.077.445 |C16.131.831.580 |C16.320.850.420 |C17.800.621.497 |C17.800.804.580 |C17.800.827.420

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D007184
MeSH: D007184
OMIM: 308300;
MSeqDR :
Genes: IKBKG;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001000	Abnormality of skin pigmentation
3	HP:0000951	Abnormality of the skin
4	HP:0004529	Atrophic, patchy alopecia
5	HP:0100783	Breast aplasia
6	HP:0003187	Breast hypoplasia
7	HP:0000518	Cataract NAMDC: Cataracts
8	HP:0002208	Coarse hair	Childhood onset
9	HP:0000684	Delayed eruption of teeth
10	HP:0001880	Eosinophilia
11	HP:0010783	Erythema
12	HP:0002213	Fine hair
13	HP:0002937	Hemivertebrae
14	HP:0000962	Hyperkeratosis
15	HP:0000668	Hypodontia
16	HP:0007750	Hypoplasia of the fovea
17	HP:0002557	Hypoplastic nipples
18	HP:0001249	Intellectual disability
19	HP:0000491	Keratitis
20	HP:0002751	Kyphoscoliosis
21	HP:0000252	Microcephaly
22	HP:0000568	Microphthalmia
23	HP:0002164	Nail dysplasia
24	HP:0008404	Nail dystrophy
25	HP:0001803	Nail pits
26	HP:0000648	Optic atrophy
27	HP:0000541	Retinal detachment
28	HP:0000573	Retinal hemorrhage
29	HP:0007850	Retinal vascular proliferation
30	HP:0001807	Ridged nail
31	HP:0100699	Scarring
32	HP:0001250	Seizures NAMDC: Seizures
33	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
34	HP:0008070	Sparse hair	Adult onset
35	HP:0001257	Spasticity NAMDC: Spasticity
36	HP:0000486	Strabismus
37	HP:0002558	Supernumerary nipple
38	HP:0005815	Supernumerary ribs
39	HP:0001805	Thick nail
40	HP:0000554	Uveitis

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_001360016.2(G6PD):c.120+3646C>T	8517	IKBKG	Uncertain significance	rs782367664	RCV000767994;	N	MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636, Orphanet:319605, Orphanet:319612; MONDO:MONDO:0010368,MedGen:C1845117; MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464; MONDO:MONDO:0010295,MedGen:C4303737, Orphanet:69088; MONDO:MONDO:0020740,MedGe	X	153770605	153770605	G	A	NC_000023.10:g.153770605G>A	-
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs)	8517	IKBKG	Pathogenic	rs2070949441	RCV000012204;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153780334	153780335	G	GCACCTGCCTT	NC_000023.10:g.153780337_153780346dup	OMIM:300248.0003	C0021171 308300 Incontinentia pigmenti syndrome;
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)	8517	IKBKG	Pathogenic	rs137853323	RCV000012205\|RCV000256164;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464\|MedGen:CN517202	X	153780401	153780401	C	T	X:g.153780401C>T	ClinGen:CA255890,OMIM:300248.0006	C0021171 308300 Incontinentia pigmenti syndrome;
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)	8517	IKBKG	Pathogenic	rs2071063100	RCV001199162;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153784550	153784550	C	T	X:g.153784550C>T	-
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del	8517	IKBKG	Pathogenic	-1	RCV001785272;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153784642	153814360	na	na	-1	-
NM_001099857.5(IKBKG):c.518+866C>T	8517	IKBKG	Pathogenic	rs2071101767	RCV000757923\|RCV001172475;	N	\|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153787731	153787731	C	T	NC_000023.10:g.153787731C>T	OMIM:300248.0024
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)	8517	IKBKG	Pathogenic	rs2071133474	RCV001251338;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153789937	153789937	C	T	X:g.153789937C>T	-
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)	8517	IKBKG	Uncertain significance	-1	RCV002053866;	N	MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636, Orphanet:319605, Orphanet:319612; MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464; MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291, Orphanet:238468, Orphanet:98813	X	153789991	153789991	C	G	153789991	-
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs)	8517	IKBKG	Pathogenic	rs1569556615	RCV000012201;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153792222	153792223	G	GC	NC_000023.10:g.153792228dup	OMIM:300248.0004
NM_001099857.5(IKBKG):c.1117+1G>A	8517	IKBKG	Pathogenic	rs2071161458	RCV001172484\|RCV001172485;	N	\|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153792236	153792236	G	A	NC_000023.10:g.153792236G>A	OMIM:300248.0031
NM_001099857.5(IKBKG):c.1117+5G>C	8517	IKBKG	Uncertain significance	rs1557236796	RCV000523987\|RCV001172481\|RCV001172480;	N	MedGen:CN517202\|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464\|	X	153792240	153792240	G	C	X:g.153792240G>C	ClinGen:CA658659077,OMIM:300248.0028	CN169374 not specified;
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)	8517	IKBKG	Pathogenic	rs782178147	RCV000012209\|RCV000413717\|RCV001172473;	N	MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291, Orphanet:238468, Orphanet:98813\|MedGen:CN517202\|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153792576	153792577	G	GC	X:g.153792576_153792577insC	ClinGen:CA10566455,OMIM:300248.0008	CN517202 not provided;
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs)	8517	IKBKG	Pathogenic	rs2071167272	RCV000012213;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153792579	153792580	C	CCCCCGAGGAGCCA	NC_000023.10:g.153792582_153792594dup	OMIM:300248.0012	CN231145 Incontinentia pigmenti, atypical;
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)	8517	IKBKG	Pathogenic	rs137853327	RCV000024285\|RCV001172474;	N	\|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153792633	153792633	A	T	X:g.153792633A>T	ClinGen:CA121479,UniProtKB:Q9Y6K9#VAR_011324,OMIM:300248.0011	C1846008 Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia;
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)	8517	IKBKG	Likely pathogenic	rs137853322	RCV000012202\|RCV001582474;	N	MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464\|MedGen:CN517202	X	153792635	153792635	A	G	X:g.153792635A>G	ClinGen:CA255887,UniProtKB:Q9Y6K9#VAR_009182,OMIM:300248.0005	C0021171 308300 Incontinentia pigmenti syndrome;
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)	8517	IKBKG	Pathogenic	rs137853321	RCV000012203\|RCV000170521;	N	\|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464	X	153792675	153792675	A	G	X:g.153792675A>G	ClinGen:CA121467,OMIM:300248.0002	C1845919 300301 Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema;

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