MCID: INC021
MIFTS: 60

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 51 11 70 23 47 24 25 48 53 69 49 38
Bloch-Sulzberger Syndrome 11 23 47 24 25 48 53 69 13
Ip 47 24 25 69
Incontinentia Pigmenti, Familial Male-Lethal Type 47 67
Incontinentia Pigmenti Syndrome 11 26
Bloch-Siemens Syndrome 25 53
 
Familial Incontinentia Pigmenti Male-Lethal Type 69
Familial Incontinentia Pigmenti Type Ii 69
Bloch-Siemens-Sulzberger Syndrome 25
Incontinentia Pigmenti Achromians 67
Bloch Sulzberger Syndrome 67
Ip2 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
incontinentia pigmenti:
Inheritance: x-linked dominant inheritance

GeneReviews:

23
Penetrance: incontinentia pigmenti has high penetrance. most persons with ip appear to express the phenotype within a few months after birth. ...


Classifications:



External Ids:

OMIM51 308300
Disease Ontology11 DOID:12305
ICD1029 Q82.3
MeSH38 D007184
NCIt44 C84787
Orphanet53 ORPHA464
MESH via Orphanet39 D007184
ICD10 via Orphanet30 Q82.3

Summaries for Incontinentia Pigmenti

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NINDS:48 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 NLR proteins and p75(NTR)-mediated signaling. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are hematopoietic system and immune system.

Genetics Home Reference:25 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:47 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:51 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...

UniProtKB/Swiss-Prot:69 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:70 Incontinentia pigmenti (IP, also known as \"Bloch–Siemens syndrome,\" \"Bloch–Sulzberger disease,\"... more...

GeneReviews 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

Human phenotypes related to Incontinentia Pigmenti:

 63 53 (show all 93)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash63 53 hallmark (90%) Very frequent (99-80%) HP:0000988
2 hypopigmented skin patches63 53 hallmark (90%) Very frequent (99-80%) HP:0001053
3 abnormality of the fingernails63 53 hallmark (90%) Very frequent (99-80%) HP:0001231
4 anonychia63 hallmark (90%) HP:0001798
5 irregular hyperpigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007400
6 abnormal blistering of the skin63 53 hallmark (90%) Very frequent (99-80%) HP:0008066
7 reduced number of teeth63 hallmark (90%) HP:0009804
8 telangiectasia of the skin63 hallmark (90%) HP:0100585
9 verrucae63 53 hallmark (90%) Very frequent (99-80%) HP:0200043
10 oral cleft63 53 typical (50%) Frequent (79-30%) HP:0000202
11 hearing abnormality63 53 typical (50%) Frequent (79-30%) HP:0000364
12 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
13 visual impairment63 53 typical (50%) Frequent (79-30%) HP:0000505
14 delayed eruption of teeth63 53 typical (50%) Frequent (79-30%) HP:0000684
15 abnormality of the ribs63 typical (50%) HP:0000772
16 hyperkeratosis63 53 typical (50%) Frequent (79-30%) HP:0000962
17 hyperhidrosis63 53 typical (50%) Frequent (79-30%) HP:0000975
18 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
19 alopecia63 53 typical (50%) Frequent (79-30%) HP:0001596
20 supernumerary nipple63 53 typical (50%) Frequent (79-30%) HP:0002558
21 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
22 osteolysis63 53 typical (50%) Frequent (79-30%) HP:0002797
23 deviation of finger63 53 typical (50%) Frequent (79-30%) HP:0004097
24 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
25 abnormality of dental morphology63 53 typical (50%) Frequent (79-30%) HP:0006482
26 attention deficit hyperactivity disorder63 53 typical (50%) Frequent (79-30%) HP:0007018
27 opacification of the corneal stroma63 typical (50%) HP:0007759
28 camptodactyly of finger63 53 typical (50%) Frequent (79-30%) HP:0100490
29 asymmetric growth63 53 typical (50%) Frequent (79-30%) HP:0100555
30 skin ulcer63 53 typical (50%) Frequent (79-30%) HP:0200042
31 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
32 chorioretinal abnormality63 53 occasional (7.5%) Occasional (29-5%) HP:0000532
33 retinal detachment63 53 occasional (7.5%) Occasional (29-5%) HP:0000541
34 blue sclerae63 53 occasional (7.5%) Occasional (29-5%) HP:0000592
35 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
36 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
37 muscular hypotonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001252
38 hypertonia63 occasional (7.5%) HP:0001276
39 umbilical hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0001537
40 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
41 pulmonary hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0002092
42 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
43 encephalitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002383
44 cerebral ischemia63 53 occasional (7.5%) Occasional (29-5%) HP:0002637
45 spina bifida occulta63 53 occasional (7.5%) Occasional (29-5%) HP:0003298
46 absent hand63 53 occasional (7.5%) Occasional (29-5%) HP:0004050
47 hemiplegia/hemiparesis63 53 occasional (7.5%) Occasional (29-5%) HP:0004374
48 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
49 abnormality of the retinal vasculature63 occasional (7.5%) HP:0008046
50 aplasia/hypoplasia affecting the eye63 occasional (7.5%) HP:0008056
51 abnormality of the toenails63 53 occasional (7.5%) Occasional (29-5%) HP:0008388
52 inflammatory abnormality of the eye63 occasional (7.5%) HP:0100533
53 cognitive impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0100543
54 microcephaly63 HP:0000252
55 keratitis63 53 Occasional (29-5%) HP:0000491
56 uveitis63 53 Occasional (29-5%) HP:0000554
57 microphthalmia63 53 Occasional (29-5%) HP:0000568
58 retinal hemorrhage63 53 Occasional (29-5%) HP:0000573
59 optic atrophy63 HP:0000648
60 hypodontia63 53 Very frequent (99-80%) HP:0000668
61 abnormality of skin pigmentation63 53 Very frequent (99-80%) HP:0001000
62 intellectual disability63 53 Occasional (29-5%) HP:0001249
63 spasticity63 53 Occasional (29-5%) HP:0001257
64 nail pits63 HP:0001803
65 thick nail63 HP:0001805
66 ridged nail63 HP:0001807
67 eosinophilia63 53 Frequent (79-30%) HP:0001880
68 nail dysplasia63 HP:0002164
69 coarse hair63 HP:0002208
70 fine hair63 HP:0002213
71 hypoplastic nipples63 HP:0002557
72 kyphoscoliosis63 HP:0002751
73 hemivertebrae63 HP:0002937
74 breast hypoplasia63 HP:0003187
75 atrophic, patchy alopecia63 HP:0004529
76 supernumerary ribs63 53 Frequent (79-30%) HP:0005815
77 retinal vascular proliferation63 53 Occasional (29-5%) HP:0007850
78 sparse hair63 HP:0008070
79 nail dystrophy63 HP:0008404
80 erythema63 53 Very frequent (99-80%) HP:0010783
81 scarring63 HP:0100699
82 breast aplasia63 HP:0100783
83 global developmental delay53 Occasional (29-5%)
84 abnormality of the hair53 Very frequent (99-80%)
85 abnormality of the nail53 Very frequent (99-80%)
86 hypoplastic fingernail53 Very frequent (99-80%)
87 dystrophic toenail53 Occasional (29-5%)
88 broad nail53 Occasional (29-5%)
89 abnormal hand morphology53 Frequent (79-30%)
90 corneal opacity53 Frequent (79-30%)
91 ridged fingernail53 Occasional (29-5%)
92 abnormality of immune system physiology53 Frequent (79-30%)
93 teleangiectasia of the skin53 Very frequent (99-80%)

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 Syndrome26
2 Incontinentia Pigmenti24 IKBKG

Anatomical Context for Incontinentia Pigmenti

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MalaCards organs/tissues related to Incontinentia Pigmenti:

35
Skin, Eye, Heart, Brain, Cortex, T cells, Small intestine

Animal Models for Incontinentia Pigmenti or affiliated genes

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MGI Mouse Phenotypes related to Incontinentia Pigmenti:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.4CHUK, DKC1, IKBKG, NFKB1, TRAF6
2MP:00053878.4CHUK, DKC1, IKBKG, NFKB1, TRAF6
3MP:00107718.4CHUK, DKC1, IKBKG, NFKB1, TRAF6
4MP:00053708.1CHUK, IKBKG, NFKB1, TRAF6

Publications for Incontinentia Pigmenti

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Articles related to Incontinentia Pigmenti:

(show top 50)    (show all 201)
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:

69
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 DELdeletionPathogenicChr na, -1: -1
2IKBKGIKBKG, 1-BP INS, 1110CinsertionPathogenicChr na, -1: -1
3IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)SNVPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
4IKBKGNM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp)SNVPathogenicrs137853321GRCh37Chr X, 153792675: 153792675
5IKBKGIKBKG, 10-BP INS, NT127insertionPathogenicChr na, -1: -1
6IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)SNVPathogenicrs137853323GRCh37Chr 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 45)
idSuper pathwaysScoreTop Affiliating Genes
19.5CHUK, IKBKG
2
Show member pathways
8.9CHUK, IKBKG, TRAF6
3
Show member pathways
8.9CHUK, IKBKG, TRAF6
48.9CHUK, IKBKG, TRAF6
5
Show member pathways
8.7CHUK, IKBKG, NFKB1
6
Show member pathways
8.7CHUK, IKBKG, NFKB1
78.7CHUK, IKBKG, NFKB1
8
Show member pathways
8.7CHUK, IKBKG, NFKB1
9
Show member pathways
8.7CHUK, IKBKG, NFKB1
108.7CHUK, IKBKG, NFKB1
118.7CHUK, IKBKG, NFKB1
128.7CHUK, IKBKG, NFKB1
138.7CHUK, IKBKG, NFKB1
148.7CHUK, IKBKG, NFKB1
15
Show member pathways
8.5CHUK, NFKB1, TRAF6
168.1CHUK, IKBKG, NFKB1, TRAF6
17
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
188.1CHUK, IKBKG, NFKB1, TRAF6
198.1CHUK, IKBKG, NFKB1, TRAF6
20
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
21
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
22
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
23
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
24
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
25
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
26
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
27
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
288.1CHUK, IKBKG, NFKB1, TRAF6
298.1CHUK, IKBKG, NFKB1, TRAF6
308.1CHUK, IKBKG, NFKB1, TRAF6
318.1CHUK, IKBKG, NFKB1, TRAF6
328.1CHUK, IKBKG, NFKB1, TRAF6
338.1CHUK, IKBKG, NFKB1, TRAF6
34
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
35
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
36
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
37
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
38
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
398.1CHUK, IKBKG, NFKB1, TRAF6
40
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
41
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
42
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
43
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
448.1CHUK, IKBKG, NFKB1, TRAF6
45
Show member pathways
8.1CHUK, IKBKG, NFKB1, 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:00083859.7CHUK, IKBKG
2CD40 receptor complexGO:00356319.3CHUK, TRAF6
3cytoplasmic side of plasma membraneGO:00098989.0CHUK, TRAF6

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1TRIF-dependent toll-like receptor signaling pathwayGO:003566610.1CHUK, IKBKG
2regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.1CHUK, IKBKG
3JNK cascadeGO:000725410.0IKBKG, TRAF6
4membrane protein intracellular domain proteolysisGO:00312939.7NFKB1, TRAF6
5NIK/NF-kappaB signalingGO:00380619.7CHUK, NFKB1
6nucleotide-binding oligomerization domain containing signaling pathwayGO:00704239.5CHUK, IKBKG, TRAF6
7positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.4CHUK, IKBKG, TRAF6
8stress-activated MAPK cascadeGO:00514039.3CHUK, IKBKG, NFKB1
9inflammatory responseGO:00069548.9CHUK, IKBKG, NFKB1
10innate immune responseGO:00450878.8CHUK, IKBKG, NFKB1
11immune responseGO:00069558.8CHUK, IKBKG, TRAF6
12I-kappaB kinase/NF-kappaB signalingGO:00072498.7CHUK, IKBKG, NFKB1, TRAF6
13Fc-epsilon receptor signaling pathwayGO:00380958.6CHUK, IKBKG, NFKB1, TRAF6
14stimulatory C-type lectin receptor signaling pathwayGO:00022238.6CHUK, IKBKG, NFKB1, TRAF6
15T cell receptor signaling pathwayGO:00508528.6CHUK, IKBKG, NFKB1, TRAF6
16positive regulation of NF-kappaB transcription factor activityGO:00510928.5CHUK, IKBKG, NFKB1, TRAF6
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.1CHUK, IKBKG, NFKB1, TRAF6

Molecular functions related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:00469828.7CHUK, IKBKG, NFKB1

Sources for Incontinentia Pigmenti

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet