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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: 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)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..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, CTD

Term ID:

5766

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:

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;

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
8	HP:0002208	Coarse hair
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:0001805	Onychogryposis
27	HP:0000648	Optic atrophy
28	HP:0000541	Retinal detachment
29	HP:0000573	Retinal hemorrhage
30	HP:0007850	Retinal vascular proliferation
31	HP:0001807	Ridged nail
32	HP:0100699	Scarring
33	HP:0001250	Seizure
34	HP:0004322	Short stature
35	HP:0008070	Sparse hair
36	HP:0001257	Spasticity
37	HP:0000486	Strabismus
38	HP:0002558	Supernumerary nipple
39	HP:0005815	Supernumerary ribs
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_003639.4(IKBKG):c.184C>T (p.Arg62Ter)	8517	IKBKG	Pathogenic	137853323	RCV000012205;	N	MedGen:C0021171,OMIM:308300, Orphanet:ORPHA464,SNOMED CT:367520004	X	153780401	153780401	NM_003639.4:c.184C>T	NP_003630.1:p.Arg62Ter	NC_000023.10:g.153780401C>T	OMIM Allelic Variant:300248.0006	C0021171 308300 Incontinentia pigmenti syndrome
NM_003639.4(IKBKG):c.1219A>G (p.Met407Val)	8517	IKBKG	Pathogenic	137853322	RCV000012202;	N	MedGen:C0021171,OMIM:308300, Orphanet:ORPHA464,SNOMED CT:367520004	X	153792635	153792635	NM_003639.4:c.1219A>G	NP_003630.1:p.Met407Val	NC_000023.10:g.153792635A>G	OMIM Allelic Variant:300248.0005	C0021171 308300 Incontinentia pigmenti syndrome
NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp)	8517	IKBKG	Pathogenic	137853321	RCV000170521; RCV000012203;	N	MedGen:C0021171,OMIM:308300, Orphanet:ORPHA464,SNOMED CT:367520004; MedGen:C1845919,OMIM:300301,ORPHA:69088	X	153792675	153792675	NM_003639.4:c.1259A>G	NP_003630.1:p.Ter420Trp	NC_000023.10:g.153792675A>G	OMIM Allelic Variant:300248.0002	C1845919 300301 Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; C0021171 308300 Incontinentia pigmenti syndrome