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:
expand
Abnormalities, Multiple (D000015)
Parent Node:
expand
Pigmentation Disorders (D010859)
Parent Node:
expand
Skin Abnormalities (D012868)
Parent Node:
expand
Skin Diseases, Genetic (D012873)
..Starting node
..expand
Incontinentia Pigmenti (D007184)

       Child Nodes:
........expandHYPOMELANOSIS OF ITO (OMIM:300337)
........expandIncontinentia pigmenti, familial male-lethal type (C531716)



 Sister Nodes: 
..expandActinic Prurigo (C566780)
..expandAlbinism (D000417) Child30
..expandAmyloidosis IX (C562643)
..expandAmyloidosis, Cutaneous Bullous (C562644)
..expandAmyloidosis, Primary Cutaneous (C562642)
..expandAnnular Erythema (C562461)
..expandArterial Tortuosity Syndrome (C565942)
..expandAtrophia Maculosa Varioliformis Cutis, Familial (C563349)
..expandBasaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..expandBuschke-Ollendorff syndrome (C537415)
..expandCollagenosis, Familial Reactive Perforating (C565687)
..expandCutis Laxa (D003483) Child17
..expandDarier Disease (D007644) Child7
..expandDermatitis, Atopic (D003876) Child9
..expandDowling-Degos Disease (C562924)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..expandDyskeratosis Congenita (D019871) Child3
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandErythrokeratodermia Variabilis (D056266) Child3
..expandErythrokeratodermia with ataxia (C535738)
..expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..expandFingerprints, Absence of (C565010)
..expandFollicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..expandGerodermia osteodysplastica (C537799)
..expandHereditary Autoinflammatory Diseases (D056660) Child10
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyalinosis, Systemic (D057770)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis, X-Linked (D016114) Child2
..expandIncontinentia Pigmenti (D007184) Child2
..expandJuvenile Spring Eruption of Ears (C566781)
..expandKeratoderma, Palmoplantar (D007645) Child45
..expandKeratolytic winter erythema (C536155)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandLeukokeratosis, Hereditary Mucosal (D053529)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandLipoid Proteinosis of Urbach and Wiethe (D008065)
..expandMonilethrix (D056734) Child1
..expandMuir-Torre Syndrome (D055653)
..expandNetherton Syndrome (D056770)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOrofaciodigital syndrome 9 (C557818)
..expandOsseous Heteroplasia, Progressive (C562735)
..expandOsteopoikilosis, Isolated (C563484)
..expandParana Hard Skin Syndrome (C564905)
..expandPeeling Skin Syndrome (C564818)
..expandPemphigus, Benign Familial (D016506)
..expandPerifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPlasminogen Deficiency, Type I (C566897)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPorokeratosis (D017499) Child7
..expandPorphyria, Erythropoietic (D017092)
..expandPorphyrias, Hepatic (D017094) Child14
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandStiff Skin Syndrome (C566112)
..expandStorm Syndrome (C566109)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandVitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..expandVohwinkel Syndrome, Variant Form (C565826)
..expandXeroderma Pigmentosum (D014983) Child16
   

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:Bloch-Siemens-Sulzberger Syndrome |Bloch-Siemens Syndrome |Bloch Sulzberger Syndrome |Bloch-Sulzberger Syndrome |INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE |INCONTINENTIA PIGMENTI, TYPE II, FORMERLY |IP |IP2, FORMERLY |Syndrome, Bloch-Sulzberger
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: D007184
MeSH: D007184
OMIM: 308300;
MSeqDR LSDB:  
Genes: IKBKG;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0001000Abnormality of skin pigmentation
3 HP:0000951Abnormality of the skin
4 HP:0004529Atrophic, patchy alopecia
5 HP:0100783Breast aplasia
6 HP:0003187Breast hypoplasia
7 HP:0000518Cataract
NAMDC:  Cataracts
8 HP:0002208Coarse hair Childhood onset
9 HP:0000684Delayed eruption of teeth
10 HP:0001880Eosinophilia
11 HP:0010783Erythema
12 HP:0002213Fine hair
13 HP:0002937Hemivertebrae
14 HP:0000962Hyperkeratosis
15 HP:0000668Hypodontia
16 HP:0007750Hypoplasia of the fovea
17 HP:0002557Hypoplastic nipples
18 HP:0001249Intellectual disability
19 HP:0000491Keratitis
20 HP:0002751Kyphoscoliosis
21 HP:0000252Microcephaly
22 HP:0000568Microphthalmia
23 HP:0002164Nail dysplasia
24 HP:0008404Nail dystrophy
25 HP:0001803Nail pits
26 HP:0000648Optic atrophy
27 HP:0000541Retinal detachment
28 HP:0000573Retinal hemorrhage
29 HP:0007850Retinal vascular proliferation
30 HP:0001807Ridged nail
31 HP:0100699Scarring
32 HP:0001250Seizures
NAMDC:  Seizures
33 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
34 HP:0008070Sparse hair Adult onset
35 HP:0001257Spasticity
NAMDC:  Spasticity
36 HP:0000486Strabismus
37 HP:0002558Supernumerary nipple
38 HP:0005815Supernumerary ribs
39 HP:0001805Thick nail
40 HP:0000554Uveitis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001360016.2(G6PD):c.120+3646C>T8517IKBKGUncertain significancers782367664RCV000767994; NMONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291, Orphanet:238468, Orphanet:98813; MONDO:MONDO:0010368,MedGen:C1845117; MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464; MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636, Orphanet:319605, Orphanet:3196X153770605153770605GAX:g.153770605G>A-
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs)8517IKBKGPathogenicrs2070949441RCV000012204; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153780334153780335GGCACCTGCCTTX:g.153780334_153780335insCACCTGCCTTOMIM:300248.0003
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)8517IKBKGPathogenicrs137853323RCV000012205|RCV000256164; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464|MedGen:CN517202X153780401153780401CTX:g.153780401C>TClinGen:CA255890,OMIM:300248.0006C0021171 308300 Incontinentia pigmenti syndrome;
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)8517IKBKGPathogenicrs2071063100RCV001199162; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153784550153784550CTX:g.153784550C>T-
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del8517IKBKGPathogenic-1RCV001785272; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153784642153814360nana-1-
NM_001099857.5(IKBKG):c.518+866C>T8517IKBKGPathogenicrs2071101767RCV000757923|RCV001172475; N|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153787731153787731CT153787731OMIM:300248.0024
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)8517IKBKGPathogenicrs2071133474RCV001251338; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153789937153789937CTX:g.153789937C>T-
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs)8517IKBKGPathogenicrs1569556615RCV000012201; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153792222153792223GGCX:g.153792222_153792223insCOMIM:300248.0004
NM_001099857.5(IKBKG):c.1117+1G>A8517IKBKGPathogenicrs2071161458RCV001172484|RCV001172485; N|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153792236153792236GA153792236OMIM:300248.0031
NM_001099857.5(IKBKG):c.1117+5G>C8517IKBKGUncertain significancers1557236796RCV000523987|RCV001172481|RCV001172480; NMedGen:CN517202|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464|X153792240153792240GCX:g.153792240G>CClinGen:CA658659077,OMIM:300248.0028CN169374 not specified;
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)8517IKBKGPathogenicrs782178147RCV000012209|RCV000413717|RCV001172473; NMONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291, Orphanet:238468, Orphanet:98813|MedGen:CN517202|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153792576153792577GGCX:g.153792576_153792577insCClinGen:CA10566455,OMIM:300248.0008CN517202 not provided;
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs)8517IKBKGPathogenicrs2071167272RCV000012213; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153792579153792580CCCCCCGAGGAGCCAX:g.153792579_153792580insCCCCGAGGAGCCAOMIM:300248.0012
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)8517IKBKGPathogenicrs137853327RCV000024285|RCV001172474; N|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153792633153792633ATX:g.153792633A>TClinGen:CA121479,UniProtKB:Q9Y6K9#VAR_011324,OMIM:300248.0011C1846008 Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia;
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)8517IKBKGLikely pathogenicrs137853322RCV000012202|RCV001582474; NMONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464|MedGen:CN517202X153792635153792635AGX:g.153792635A>GClinGen:CA255887,UniProtKB:Q9Y6K9#VAR_009182,OMIM:300248.0005C0021171 308300 Incontinentia pigmenti syndrome;
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)8517IKBKGPathogenicrs137853321RCV000012203|RCV000170521; N|MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300, Orphanet:464X153792675153792675AGX:g.153792675A>GClinGen:CA121467,OMIM:300248.0002C1845919 300301 Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema;
MSeqDR Portal