MCID: INC021
MIFTS: 57

Incontinentia Pigmenti malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Incontinentia Pigmenti

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Aliases & Descriptions for Incontinentia Pigmenti:

Name: Incontinentia Pigmenti 50 11 69 22 46 23 24 47 52 68 48 37
Bloch-Sulzberger Syndrome 11 22 46 23 24 47 13 52 68
Ip 46 23 24 68
Incontinentia Pigmenti, Familial Male-Lethal Type 46 66
Incontinentia Pigmenti Syndrome 11 25
Bloch-Siemens Syndrome 24 52
Ip2 46 68
 
Familial Incontinentia Pigmenti Male-Lethal Type 68
Familial Incontinentia Pigmenti Type Ii 68
Bloch-Siemens-Sulzberger Syndrome 24
Incontinentia Pigmenti Achromians 66
Incontinentia Pigmenti, Type Ii 12
Incontinentia Pigmenti Type 2 46
Bloch Sulzberger Syndrome 66

Characteristics:

Orphanet epidemiological data:

52
incontinentia pigmenti:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
incontinentia pigmenti:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 308300
Disease Ontology11 DOID:12305
ICD1028 Q82.3
MeSH37 D007184
NCIt43 C84787
Orphanet52 ORPHA464
ICD10 via Orphanet29 Q82.3
MESH via Orphanet38 D007184

Summaries for Incontinentia Pigmenti

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NINDS:47 Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, impaired cognitive development, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.

MalaCards based summary: Incontinentia Pigmenti, also known as bloch-sulzberger syndrome, is related to hypomelanosis of ito and congenital disorder of glycosylation, type ip, and has symptoms including skin rash, hypopigmented skin patches and abnormality of the fingernails. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma), and among its related pathways are Cellular Transformation by HTLV1 and Adipocytokine signaling pathway. Affiliated tissues include skin, eye and heart.

Genetics Home Reference:24 Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.

NIH Rare Diseases:46 Incontinentia pigmenti (ip) is a genetic condition that affects the skin and other body systems. skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. the growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. most people with ip have normal intelligence, but some have developmental delay, intellectual disability, seizures, and/or other neurological problems. ip is caused by mutations in the ikbkg gene and is inherited in an x-linked dominant manner. last updated: 7/29/2014

OMIM:50 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...

UniProtKB/Swiss-Prot:68 Incontinentia pigmenti: A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring.

Wikipedia:69 Incontinentia pigmenti (IP, also known as \"Bloch–Siemens syndrome,\" \"Bloch–Sulzberger disease,\"... more...

GeneReviews summary for NBK1472

Related Diseases for Incontinentia Pigmenti

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Graphical network of the top 20 diseases related to Incontinentia Pigmenti:



Diseases related to incontinentia pigmenti

Symptoms for Incontinentia Pigmenti

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Symptoms by clinical synopsis from OMIM:

308300

Clinical features from OMIM:

308300

Symptoms:

 52 (show all 67)
  • oral cleft
  • hearing abnormality
  • strabismus
  • keratitis
  • visual impairment
  • cataract
  • chorioretinal abnormality
  • retinal detachment
  • uveitis
  • microphthalmos
  • retinal hemorrhage
  • blue sclerae
  • hypodontia
  • abnormality of dental enamel
  • delayed eruption of teeth
  • hyperkeratosis
  • hyperhidrosis
  • skin rash
  • abnormality of skin pigmentation
  • hypopigmented skin patches
  • abnormality of the fingernails
  • intellectual disability
  • seizures
  • muscular hypotonia
  • spasticity
  • global developmental delay
  • gait disturbance
  • umbilical hernia
  • abnormality of the hair
  • alopecia
  • abnormality of the nail
  • congestive heart failure
  • hypoplastic fingernail
  • dystrophic toenail
  • broad nail
  • eosinophilia
  • pulmonary hypertension
  • cerebral cortical atrophy
  • encephalitis
  • supernumerary nipple
  • cerebral ischemia
  • scoliosis
  • osteolysis
  • spina bifida occulta
  • absent hand
  • deviation of finger
  • short stature
  • hemiplegia/hemiparesis
  • supernumerary ribs
  • abnormal hand morphology
  • finger syndactyly
  • abnormality of dental morphology
  • attention deficit hyperactivity disorder
  • irregular hyperpigmentation
  • retinal vascular proliferation
  • corneal opacity
  • abnormal blistering of the skin
  • abnormality of the toenails
  • ridged fingernail
  • erythema
  • abnormality of immune system physiology
  • camptodactyly of finger
  • cognitive impairment
  • asymmetric growth
  • teleangiectasia of the skin
  • skin ulcer
  • verrucae

HPO human phenotypes related to Incontinentia Pigmenti:

(show all 91)
id Description Frequency HPO Source Accession
1 skin rash hallmark (90%) HP:0000988
2 hypopigmented skin patches hallmark (90%) HP:0001053
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 anonychia hallmark (90%) HP:0001798
5 irregular hyperpigmentation hallmark (90%) HP:0007400
6 abnormal blistering of the skin hallmark (90%) HP:0008066
7 reduced number of teeth hallmark (90%) HP:0009804
8 telangiectasia of the skin hallmark (90%) HP:0100585
9 verrucae hallmark (90%) HP:0200043
10 oral cleft typical (50%) HP:0000202
11 hearing abnormality typical (50%) HP:0000364
12 strabismus typical (50%) HP:0000486
13 visual impairment typical (50%) HP:0000505
14 delayed eruption of teeth typical (50%) HP:0000684
15 abnormality of the ribs typical (50%) HP:0000772
16 hyperkeratosis typical (50%) HP:0000962
17 hyperhidrosis typical (50%) HP:0000975
18 gait disturbance typical (50%) HP:0001288
19 alopecia typical (50%) HP:0001596
20 supernumerary nipple typical (50%) HP:0002558
21 scoliosis typical (50%) HP:0002650
22 osteolysis typical (50%) HP:0002797
23 deviation of finger typical (50%) HP:0004097
24 short stature typical (50%) HP:0004322
25 abnormality of dental morphology typical (50%) HP:0006482
26 attention deficit hyperactivity disorder typical (50%) HP:0007018
27 opacification of the corneal stroma typical (50%) HP:0007759
28 camptodactyly of finger typical (50%) HP:0100490
29 asymmetric growth typical (50%) HP:0100555
30 skin ulcer typical (50%) HP:0200042
31 cataract occasional (7.5%) HP:0000518
32 chorioretinal abnormality occasional (7.5%) HP:0000532
33 retinal detachment occasional (7.5%) HP:0000541
34 blue sclerae occasional (7.5%) HP:0000592
35 abnormality of dental enamel occasional (7.5%) HP:0000682
36 abnormality of the fingernails occasional (7.5%) HP:0001231
37 seizures occasional (7.5%) HP:0001250
38 muscular hypotonia occasional (7.5%) HP:0001252
39 hypertonia occasional (7.5%) HP:0001276
40 umbilical hernia occasional (7.5%) HP:0001537
41 congestive heart failure occasional (7.5%) HP:0001635
42 pulmonary hypertension occasional (7.5%) HP:0002092
43 cerebral cortical atrophy occasional (7.5%) HP:0002120
44 encephalitis occasional (7.5%) HP:0002383
45 cerebral ischemia occasional (7.5%) HP:0002637
46 spina bifida occulta occasional (7.5%) HP:0003298
47 absent hand occasional (7.5%) HP:0004050
48 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
49 finger syndactyly occasional (7.5%) HP:0006101
50 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
51 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
52 abnormality of the toenails occasional (7.5%) HP:0008388
53 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
54 cognitive impairment occasional (7.5%) HP:0100543
55 microcephaly HP:0000252
56 strabismus HP:0000486
57 keratitis HP:0000491
58 cataract HP:0000518
59 retinal detachment HP:0000541
60 uveitis HP:0000554
61 microphthalmia HP:0000568
62 retinal hemorrhage HP:0000573
63 optic atrophy HP:0000648
64 hypodontia HP:0000668
65 delayed eruption of teeth HP:0000684
66 hyperkeratosis HP:0000962
67 abnormality of skin pigmentation HP:0001000
68 intellectual disability HP:0001249
69 seizures HP:0001250
70 spasticity HP:0001257
71 nail pits HP:0001803
72 thick nail HP:0001805
73 ridged nail HP:0001807
74 eosinophilia HP:0001880
75 nail dysplasia HP:0002164
76 coarse hair HP:0002208
77 fine hair HP:0002213
78 hypoplastic nipples HP:0002557
79 supernumerary nipple HP:0002558
80 kyphoscoliosis HP:0002751
81 hemivertebrae HP:0002937
82 breast hypoplasia HP:0003187
83 short stature HP:0004322
84 atrophic, patchy alopecia HP:0004529
85 supernumerary ribs HP:0005815
86 retinal vascular proliferation HP:0007850
87 sparse hair HP:0008070
88 nail dystrophy HP:0008404
89 erythema HP:0010783
90 scarring HP:0100699
91 breast aplasia HP:0100783

UMLS symptoms related to Incontinentia Pigmenti:


seizures, achromia of skin, muscle spasticity

Drugs & Therapeutics for Incontinentia Pigmenti

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Role of Pseudogene in Incontinentia Pigmenti, and Its Potential TreatmentCompletedNCT00976586

Search NIH Clinical Center for Incontinentia Pigmenti


Cochrane evidence based reviews: incontinentia pigmenti

Genetic Tests for Incontinentia Pigmenti

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Genetic tests related to Incontinentia Pigmenti:

id Genetic test Affiliating Genes
1 Incontinentia Pigmenti Syndrome25
2 Incontinentia Pigmenti23 IKBKG

Anatomical Context for Incontinentia Pigmenti

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MalaCards organs/tissues related to Incontinentia Pigmenti:

34
Skin, Eye, Heart, Brain, Cortex, Breast, T cells

Animal Models for Incontinentia Pigmenti or affiliated genes

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Publications for Incontinentia Pigmenti

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Articles related to Incontinentia Pigmenti:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI BY INTRAVITREAL RANIBIZUMAB AS ADJUNCT THERAPY IN A 4-YEAR-OLD CHILD. (27472514)
2016
2
A Novel Frameshift Mutation of the IKBKG Gene Causing Typical Incontinentia Pigmenti. (26946775)
2015
3
A case of incontinentia pigmenti reactivation after 12-month immunizations. (27051777)
2015
4
Unique subungueal keratoacanthoma revealing incontinentia pigmenti. (26387562)
2015
5
Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti. (26043102)
2015
6
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (26564087)
2015
7
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy. (26658971)
2015
8
Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti. (26437686)
2015
9
Two Cases of Cerebrovascular Accidents in Neonates With Incontinentia Pigmenti. (26228707)
2015
10
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. (25944529)
2015
11
Neonatal incontinentia pigmenti: Six cases and a literature review. (25371735)
2014
12
Incontinentia pigmenti with NEMO mutation in a Japanese family. (22300264)
2012
13
The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele. (22767665)
2010
14
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology. (20529958)
2010
15
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti. (19603533)
2009
16
Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases]. (19305025)
2008
17
Incontinentia pigmenti achromians of Ito: an ultrastructural study. (16579015)
2006
18
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. (15884011)
2005
19
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. (16228229)
2005
20
Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians. (15531848)
2004
21
Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review. (14651567)
2003
22
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. (12497627)
2003
23
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. (12042591)
2002
24
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. (10839543)
2000
25
Keratoacanthoma developing on a pigmented patch in incontinentia pigmenti. (10828638)
2000
26
Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). (11185738)
2000
27
Macular amyloidosis with an incontinentia pigmenti-like pattern. (10730779)
2000
28
A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report. (11098039)
2000
29
Evaluation of the norrie disease gene in a family with incontinentia pigmenti. (10828739)
2000
30
Incontinentia pigmenti in a newborn male infant with DNA confirmation. (9450877)
1998
31
Bilateral macular lesions in incontinentia pigmenti. Bloch-Sulzberger syndrome. (8927808)
1996
32
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of a case and review of the Indian literature. (10829854)
1995
33
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. (8322815)
1993
34
Labial talon cusp in a child with incontinentia pigmenti achromians: case report. (1886829)
1991
35
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. (1889027)
1991
36
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report. (2052332)
1991
37
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. (2096355)
1990
38
Incontinentia pigmenti in a boy with Klinefelter's syndrome. (3612722)
1987
39
Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases. (3709001)
1986
40
Incontinentia pigmenti. 6 cases of Bloch-Sulzberger syndrome. (6952894)
1982
41
Iris hypoplasia in incontinentia pigmenti. (7175627)
1982
42
Incontinentia pigmenti achromians (Ito). (15462075)
1980
43
A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). (290427)
1979
44
Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report. (553451)
1979
45
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. (708679)
1978
46
Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger. (844872)
1977
47
Incontinentia pigmenti achromians (Ito). (50700)
1975
48
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A report of four additional cases. (5000498)
1971
49
Incontinentia pigmenti (Bloch-Sulzberger syndrome). Report of a Negro infant with typical skin lesions, alopecia, and delayed atypical dentition. (5768511)
1969
50
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome). (13508798)
1958

Variations for Incontinentia Pigmenti

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UniProtKB/Swiss-Prot genetic disease variations for Incontinentia Pigmenti:

68
id Symbol AA change Variation ID SNP ID
1IKBKGp.Met407ValVAR_009182rs137853322
2IKBKGp.Glu57LysVAR_026491rs148695964
3IKBKGp.Arg123TrpVAR_026494rs179363895
4IKBKGp.Ala323ProVAR_042666rs179363865
5IKBKGp.Leu170ProVAR_072603
6IKBKGp.Arg173GlnVAR_072604
7IKBKGp.Gln183HisVAR_072605
8IKBKGp.Ala314ProVAR_072606
9IKBKGp.Leu322ProVAR_072607
10IKBKGp.His413TyrVAR_072608

Clinvar genetic disease variations for Incontinentia Pigmenti:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGIKBKG, EXON 4-10 DELdeletionPathogenic
2IKBKGIKBKG, 1-BP INS, 1110CinsertionPathogenic
3IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)single nucleotide variantPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
4IKBKGNM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp)single nucleotide variantPathogenicrs137853321GRCh37Chr X, 153792675: 153792675
5IKBKGIKBKG, 10-BP INS, NT127insertionPathogenic
6IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

Copy number variations for Incontinentia Pigmenti from CNVD:

6 (show top 50)    (show all 103)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1196101150822873150853058Copy numberLCE3BIncontinentia Pigmenti
2196111150822873150853058Copy numberLCE3CIncontinentia Pigmenti
3225651167493568167508098Copy numberNME7Incontinentia Pigmenti
43620117253894372579511Copy numberIncontinentia Pigmenti
555615115511801455209826Copy numberOR4C11Incontinentia Pigmenti
655616115511801455209826Copy numberOR4C6Incontinentia Pigmenti
755617115511801455209826Copy numberOR4P4Incontinentia Pigmenti
855618115511801455209826Copy numberOR4S2Incontinentia Pigmenti
962743121110928311147875Copy numberPRH1Incontinentia Pigmenti
1062744121110928311147875Copy numberPRR4Incontinentia Pigmenti
1162745121110928311147875Copy numberTAS2R43Incontinentia Pigmenti
12736811295283909610254Copy numberIncontinentia Pigmenti
1382980141886436119494616Copy numberOR4K1Incontinentia Pigmenti
1482981141886436119494616Copy numberOR4K2Incontinentia Pigmenti
1582982141886436119494616Copy numberOR4K5Incontinentia Pigmenti
1682983141886436119494616Copy numberOR4M1Incontinentia Pigmenti
1782984141886436119494616Copy numberOR4N2Incontinentia Pigmenti
1882985141886436119494616Copy numberOR4Q3Incontinentia Pigmenti
1982986141886436119494616Copy numberP704PIncontinentia Pigmenti
2089565151869266520088456Copy numberCXADRP2Incontinentia Pigmenti
2189566151869266520088456Copy numberGOLGA8CIncontinentia Pigmenti
2289567151869266520088456Copy numberLOC646214Incontinentia Pigmenti
2389568151869266520088456Copy numberLOC727924Incontinentia Pigmenti
2489569151869266520088456Copy numberOR4M2Incontinentia Pigmenti
2589570151869266520088456Copy numberOR4N4Incontinentia Pigmenti
2689571151869266520088456Copy numberPOTEBIncontinentia Pigmenti
27110121173146138831891735Copy numberCCL3L1Incontinentia Pigmenti
28110122173146138831891735Copy numberCCL3L3Incontinentia Pigmenti
29110123173146138831891735Copy numberCCL4L1Incontinentia Pigmenti
30110124173146138831891735Copy numberCCL4L2Incontinentia Pigmenti
31110125173146138831891735Copy numberTBC1D3BIncontinentia Pigmenti
32110126173146138831891735Copy numberTBC1D3CIncontinentia Pigmenti
33110127173146138831891735Copy numberTBC1D3HIncontinentia Pigmenti
34111696173667578736684819Copy numberIncontinentia Pigmenti
35112921174152134442143248Copy numberARL17Incontinentia Pigmenti
36112922174152134442143248Copy numberARL17P1Incontinentia Pigmenti
37112923174152134442143248Copy numberKIAA1267Incontinentia Pigmenti
38112924174152134442143248Copy numberLRRC37AIncontinentia Pigmenti
39112925174152134442143248Copy numberLRRC37A2Incontinentia Pigmenti
40112926174152134442143248Copy numberNSFIncontinentia Pigmenti
4114511223455102234590197Copy numberIncontinentia Pigmenti
42162833222267775922735236Copy numberGSTT1Incontinentia Pigmenti
43162834222267775922735236Copy numberGSTTP2Incontinentia Pigmenti
44162835222267775922735236Copy numberLOC391322Incontinentia Pigmenti
45164550223768529637715585Copy numberAPOBEC3AIncontinentia Pigmenti
46164551223768529637715585Copy numberAPOBEC3BIncontinentia Pigmenti
471712073163997028164108151Copy numberIncontinentia Pigmenti
4818886346906945169166014Copy numberUGT2B17Incontinentia Pigmenti
4921101463190000033600000Copy numberIncontinentia Pigmenti
5021129863255847732650872Copy numberHLA-DRB5Incontinentia Pigmenti

Expression for genes affiliated with Incontinentia Pigmenti

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Search GEO for disease gene expression data for Incontinentia Pigmenti.

Pathways for genes affiliated with Incontinentia Pigmenti

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Pathways related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

(show all 48)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4CHUK, IKBKG
29.4CHUK, IKBKG
39.4CHUK, IKBKG
49.4CHUK, IKBKG
5
Show member pathways
9.4CHUK, IKBKG
6
Show member pathways
9.4CHUK, IKBKG
79.4CHUK, IKBKG
8
Show member pathways
9.4CHUK, IKBKG
9
Show member pathways
8.9CHUK, IKBKG, TRAF6
10
Show member pathways
8.9CHUK, IKBKG, TRAF6
118.9CHUK, IKBKG, TRAF6
12
Show member pathways
8.9CHUK, IKBKG, TRAF6
13
Show member pathways
8.9CHUK, IKBKG, TRAF6
14
Show member pathways
8.9CHUK, IKBKG, TRAF6
15
Show member pathways
8.9CHUK, IKBKG, TRAF6
168.9CHUK, IKBKG, TRAF6
17
Show member pathways
8.9CHUK, IKBKG, TRAF6
18
Show member pathways
8.9CHUK, IKBKG, TRAF6
19
Show member pathways
8.9CHUK, IKBKG, TRAF6
20
Show member pathways
8.9CHUK, IKBKG, TRAF6
21
Show member pathways
8.9CHUK, IKBKG, TRAF6
228.9CHUK, IKBKG, TRAF6
23
Show member pathways
8.9CHUK, IKBKG, TRAF6
24
Show member pathways
8.9CHUK, IKBKG, TRAF6
25
Show member pathways
8.9CHUK, IKBKG, TRAF6
26
Show member pathways
8.9CHUK, IKBKG, TRAF6
278.9CHUK, IKBKG, TRAF6
288.9CHUK, IKBKG, TRAF6
29
Show member pathways
8.9CHUK, IKBKG, TRAF6
30
Show member pathways
8.9CHUK, IKBKG, TRAF6
31
Show member pathways
8.9CHUK, IKBKG, TRAF6
32
Show member pathways
8.9CHUK, IKBKG, TRAF6
338.9CHUK, IKBKG, TRAF6
348.9CHUK, IKBKG, TRAF6
358.9CHUK, IKBKG, TRAF6
368.9CHUK, IKBKG, TRAF6
37
Show member pathways
8.9CHUK, IKBKG, TRAF6
38
Show member pathways
8.9CHUK, IKBKG, TRAF6
39
Show member pathways
8.9CHUK, IKBKG, TRAF6
408.9CHUK, IKBKG, TRAF6
418.9CHUK, IKBKG, TRAF6
42
Show member pathways
8.9CHUK, IKBKG, TRAF6
43
Show member pathways
8.9CHUK, IKBKG, TRAF6
44
Show member pathways
8.9CHUK, IKBKG, TRAF6
458.9CHUK, IKBKG, TRAF6
468.9CHUK, IKBKG, TRAF6
47
Show member pathways
8.9CHUK, IKBKG, TRAF6
48
Show member pathways
8.9CHUK, IKBKG, TRAF6

GO Terms for genes affiliated with Incontinentia Pigmenti

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Cellular components related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1IkappaB kinase complexGO:00083859.6CHUK, IKBKG
2CD40 receptor complexGO:00356319.3CHUK, TRAF6
3cytoplasmic side of plasma membraneGO:00098989.3CHUK, TRAF6

Biological processes related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1JNK cascadeGO:000725410.0IKBKG, TRAF6
2TRIF-dependent toll-like receptor signaling pathwayGO:00356669.9CHUK, IKBKG
3stress-activated MAPK cascadeGO:00514039.9CHUK, IKBKG
4regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.8CHUK, IKBKG
5I-kappaB kinase/NF-kappaB signalingGO:00072499.4CHUK, IKBKG, TRAF6
6Fc-epsilon receptor signaling pathwayGO:00380959.3CHUK, IKBKG, TRAF6
7stimulatory C-type lectin receptor signaling pathwayGO:00022239.3CHUK, IKBKG, TRAF6
8nucleotide-binding oligomerization domain containing signaling pathwayGO:00704239.3CHUK, IKBKG, TRAF6
9positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.2CHUK, IKBKG, TRAF6
10T cell receptor signaling pathwayGO:00508529.0CHUK, IKBKG, TRAF6
11immune responseGO:00069558.9CHUK, IKBKG, TRAF6
12positive regulation of NF-kappaB transcription factor activityGO:00510928.6CHUK, IKBKG, TRAF6

Sources for Incontinentia Pigmenti

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet