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 52 11 71 23 48 24 25 49 54 70 50 39
Bloch-Sulzberger Syndrome 11 23 48 24 25 49 54 70 13
Ip 48 24 25 70
Incontinentia Pigmenti, Familial Male-Lethal Type 48 68
Incontinentia Pigmenti Syndrome 11 27
Bloch-Siemens Syndrome 25 54
 
Familial Incontinentia Pigmenti Male-Lethal Type 70
Familial Incontinentia Pigmenti Type Ii 70
Bloch-Siemens-Sulzberger Syndrome 25
Incontinentia Pigmenti Achromians 68
Bloch Sulzberger Syndrome 68
Ip2 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 308300
Disease Ontology11 DOID:12305
ICD1030 Q82.3
MeSH39 D007184
NCIt45 C84787
Orphanet54 ORPHA464
MESH via Orphanet40 D007184
ICD10 via Orphanet31 Q82.3

Summaries for Incontinentia Pigmenti

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NINDS:49 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 Regulation of Telomerase. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are Downregulation of NF-kappaB pathway after TNFalpha stimulation and hematopoietic 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:48 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:52 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...

UniProtKB/Swiss-Prot:70 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:71 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 & Phenotypes 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:

 64 54 (show all 93)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash64 54 hallmark (90%) Very frequent (99-80%) HP:0000988
2 hypopigmented skin patches64 54 hallmark (90%) Very frequent (99-80%) HP:0001053
3 abnormality of the fingernails64 54 hallmark (90%) Very frequent (99-80%) HP:0001231
4 anonychia64 hallmark (90%) HP:0001798
5 irregular hyperpigmentation64 54 hallmark (90%) Very frequent (99-80%) HP:0007400
6 abnormal blistering of the skin64 54 hallmark (90%) Very frequent (99-80%) HP:0008066
7 reduced number of teeth64 hallmark (90%) HP:0009804
8 telangiectasia of the skin64 hallmark (90%) HP:0100585
9 verrucae64 54 hallmark (90%) Very frequent (99-80%) HP:0200043
10 oral cleft64 54 typical (50%) Frequent (79-30%) HP:0000202
11 hearing abnormality64 54 typical (50%) Frequent (79-30%) HP:0000364
12 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
13 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
14 delayed eruption of teeth64 54 typical (50%) Frequent (79-30%) HP:0000684
15 abnormality of the ribs64 typical (50%) HP:0000772
16 hyperkeratosis64 54 typical (50%) Frequent (79-30%) HP:0000962
17 hyperhidrosis64 54 typical (50%) Frequent (79-30%) HP:0000975
18 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
19 alopecia64 54 typical (50%) Frequent (79-30%) HP:0001596
20 supernumerary nipple64 54 typical (50%) Frequent (79-30%) HP:0002558
21 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
22 osteolysis64 54 typical (50%) Frequent (79-30%) HP:0002797
23 deviation of finger64 54 typical (50%) Frequent (79-30%) HP:0004097
24 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
25 abnormality of dental morphology64 54 typical (50%) Frequent (79-30%) HP:0006482
26 attention deficit hyperactivity disorder64 54 typical (50%) Frequent (79-30%) HP:0007018
27 opacification of the corneal stroma64 typical (50%) HP:0007759
28 camptodactyly of finger64 54 typical (50%) Frequent (79-30%) HP:0100490
29 asymmetric growth64 54 typical (50%) Frequent (79-30%) HP:0100555
30 skin ulcer64 54 typical (50%) Frequent (79-30%) HP:0200042
31 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
32 chorioretinal abnormality64 54 occasional (7.5%) Occasional (29-5%) HP:0000532
33 retinal detachment64 54 occasional (7.5%) Occasional (29-5%) HP:0000541
34 blue sclerae64 54 occasional (7.5%) Occasional (29-5%) HP:0000592
35 abnormality of dental enamel64 54 occasional (7.5%) Occasional (29-5%) HP:0000682
36 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
37 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
38 hypertonia64 occasional (7.5%) HP:0001276
39 umbilical hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0001537
40 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
41 pulmonary hypertension64 54 occasional (7.5%) Occasional (29-5%) HP:0002092
42 cerebral cortical atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0002120
43 encephalitis64 54 occasional (7.5%) Occasional (29-5%) HP:0002383
44 cerebral ischemia64 54 occasional (7.5%) Occasional (29-5%) HP:0002637
45 spina bifida occulta64 54 occasional (7.5%) Occasional (29-5%) HP:0003298
46 absent hand64 54 occasional (7.5%) Occasional (29-5%) HP:0004050
47 hemiplegia/hemiparesis64 54 occasional (7.5%) Occasional (29-5%) HP:0004374
48 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
49 abnormality of the retinal vasculature64 occasional (7.5%) HP:0008046
50 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
51 abnormality of the toenails64 54 occasional (7.5%) Occasional (29-5%) HP:0008388
52 inflammatory abnormality of the eye64 occasional (7.5%) HP:0100533
53 cognitive impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0100543
54 microcephaly64 HP:0000252
55 keratitis64 54 Occasional (29-5%) HP:0000491
56 uveitis64 54 Occasional (29-5%) HP:0000554
57 microphthalmia64 54 Occasional (29-5%) HP:0000568
58 retinal hemorrhage64 54 Occasional (29-5%) HP:0000573
59 optic atrophy64 HP:0000648
60 hypodontia64 54 Very frequent (99-80%) HP:0000668
61 abnormality of skin pigmentation64 54 Very frequent (99-80%) HP:0001000
62 intellectual disability64 54 Occasional (29-5%) HP:0001249
63 spasticity64 54 Occasional (29-5%) HP:0001257
64 nail pits64 HP:0001803
65 thick nail64 HP:0001805
66 ridged nail64 HP:0001807
67 eosinophilia64 54 Frequent (79-30%) HP:0001880
68 nail dysplasia64 HP:0002164
69 coarse hair64 HP:0002208
70 fine hair64 HP:0002213
71 hypoplastic nipples64 HP:0002557
72 kyphoscoliosis64 HP:0002751
73 hemivertebrae64 HP:0002937
74 breast hypoplasia64 HP:0003187
75 atrophic, patchy alopecia64 HP:0004529
76 supernumerary ribs64 54 Frequent (79-30%) HP:0005815
77 retinal vascular proliferation64 54 Occasional (29-5%) HP:0007850
78 sparse hair64 HP:0008070
79 nail dystrophy64 HP:0008404
80 erythema64 54 Very frequent (99-80%) HP:0010783
81 scarring64 HP:0100699
82 breast aplasia64 HP:0100783
83 global developmental delay54 Occasional (29-5%)
84 abnormality of the hair54 Very frequent (99-80%)
85 abnormality of the nail54 Very frequent (99-80%)
86 hypoplastic fingernail54 Very frequent (99-80%)
87 dystrophic toenail54 Occasional (29-5%)
88 broad nail54 Occasional (29-5%)
89 abnormal hand morphology54 Frequent (79-30%)
90 corneal opacity54 Frequent (79-30%)
91 ridged fingernail54 Occasional (29-5%)
92 abnormality of immune system physiology54 Frequent (79-30%)
93 teleangiectasia of the skin54 Very frequent (99-80%)

UMLS symptoms related to Incontinentia Pigmenti:


seizures, achromia of skin, muscle spasticity

GenomeRNAi Phenotypes related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00199-A-29.7CHUK, IKBKG, TRAF6

MGI Mouse Phenotypes related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

41
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

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 Syndrome27
2 Incontinentia Pigmenti24 IKBKG

Anatomical Context for Incontinentia Pigmenti

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MalaCards organs/tissues related to Incontinentia Pigmenti:

36
Skin, Eye, Heart, Brain, Cortex, T cells, Small intestine

Publications for Incontinentia Pigmenti

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Articles related to Incontinentia Pigmenti:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
ASSESSMENT OF THE RETINAL STRUCTURE IN CHILDREN WITH INCONTINENTIA PIGMENTI. (28085775)
2017
2
SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI BY INTRAVITREAL RANIBIZUMAB AS ADJUNCT THERAPY IN A 4-YEAR-OLD CHILD. (27472514)
2016
3
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. (27584961)
2016
4
Reticulated, Hyperchromic Rash in a Striated Pattern Mimicking Atopic Dermatitis and Fungal Infection in a 2-Month-Old Female: A Case of Incontinentia Pigmenti. (27195166)
2016
5
The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti. (27297972)
2016
6
Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti. (26777982)
2016
7
Incontinentia pigmenti in a father and daughter. (27037530)
2016
8
Incontinentia Pigmenti. (27349142)
2016
9
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. (27602400)
2016
10
Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report. (27412134)
2016
11
Incontinentia Pigmenti presenting as a newborn eruption: two case presentations. (27617597)
2016
12
Incontinentia pigmenti with retinal vascular anomaly and deletion of exons 4-10 in NEMO. (27666948)
2016
13
Distal Digital Keratoacanthoma in Patients With Incontinentia Pigmenti. (26614487)
2016
14
Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti. (27586688)
2016
15
Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management. (27267212)
2016
16
Novel Macular Findings on Optical Coherence Tomography in Incontinentia Pigmenti. (27832283)
2016
17
Incontinentia Pigmenti Coxsackium. (27396921)
2016
18
Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti. (27173419)
2016
19
Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti. (27121774)
2016
20
Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti. (26706482)
2016
21
Brain injury in neonatal incontinentia pigmenti: the role of multimodality neuroimaging. (27169815)
2016
22
A Novel Frameshift Mutation of the IKBKG Gene Causing Typical Incontinentia Pigmenti. (26946775)
2015
23
A case of incontinentia pigmenti reactivation after 12-month immunizations. (27051777)
2015
24
Unique subungueal keratoacanthoma revealing incontinentia pigmenti. (26387562)
2015
25
Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti. (26043102)
2015
26
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (26564087)
2015
27
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy. (26658971)
2015
28
Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti. (26437686)
2015
29
Two Cases of Cerebrovascular Accidents in Neonates With Incontinentia Pigmenti. (26228707)
2015
30
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. (25944529)
2015
31
Incontinentia Pigmenti: A Comprehensive Review and Update. (26114846)
2015
32
Incontinentia pigmenti: a rare genodermatosis in a male child. (25859498)
2015
33
Bloch Sulzberger syndrome (Incontinentia Pigmenti): a rare case report with dental defects. (25572380)
2015
34
Flare-up of incontinentia pigmenti in association with BehAset disease. (25631134)
2015
35
VARIABLE EXPRESSION OF RETINOPATHY IN A PEDIGREE OF PATIENTS WITH INCONTINENTIA PIGMENTI. (26035514)
2015
36
Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment. (25695859)
2015
37
Clinical study of 20 patients with incontinentia pigmenti. (26547887)
2015
38
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. (26117626)
2015
39
Neonatal incontinentia pigmenti: Six cases and a literature review. (25371735)
2014
40
Multiple subungual squamous cell carcinomas in a patient with incontinentia pigmenti. (25255282)
2014
41
A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti. (25599040)
2014
42
Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti. (25737924)
2014
43
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. (24339369)
2014
44
Incontinentia pigmenti diagnostic criteria update. (23802866)
2014
45
Controversies over subungual tumors in incontinentia pigmenti. (25255281)
2014
46
Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis. (24937825)
2014
47
Genomic analysis of a girl with incontinentia pigmenti but without NEMO mutation. (24487970)
2014
48
Is there an increased prevalence of Wilms' tumor in incontinentia pigmenti syndrome? (25267106)
2014
49
Asthma associated with incontinentia pigmenti and Fanconi anemia: variable airflow limitation without cellular bronchitis. (23460164)
2013
50
A 14-year-old girl with an unusual combination of incontinentia pigmenti and conversion disorder. (24260612)
2013

Variations for Incontinentia Pigmenti

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

70
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 top 50)    (show all 79)
idSuper pathwaysScoreTop Affiliating Genes
19.5CHUK, IKBKG
29.2DKC1, NFKB1
39.1CHUK, NFKB1
49.1CHUK, NFKB1
59.1CHUK, NFKB1
6
Show member pathways
9.1CHUK, NFKB1
7
Show member pathways
9.1CHUK, NFKB1
89.1CHUK, NFKB1
99.0NFKB1, TRAF6
109.0NFKB1, TRAF6
119.0NFKB1, TRAF6
12
Show member pathways
8.9CHUK, IKBKG, TRAF6
138.9CHUK, IKBKG, TRAF6
14
Show member pathways
8.9CHUK, IKBKG, TRAF6
15
Show member pathways
8.7CHUK, IKBKG, NFKB1
16
Show member pathways
8.7CHUK, IKBKG, NFKB1
17
Show member pathways
8.7CHUK, IKBKG, NFKB1
18
Show member pathways
8.7CHUK, IKBKG, NFKB1
19
Show member pathways
8.7CHUK, IKBKG, NFKB1
20
Show member pathways
8.7CHUK, IKBKG, NFKB1
218.7CHUK, IKBKG, NFKB1
22
Show member pathways
8.7CHUK, IKBKG, NFKB1
23
Show member pathways
8.7CHUK, IKBKG, NFKB1
248.7CHUK, IKBKG, NFKB1
258.7CHUK, IKBKG, NFKB1
268.7CHUK, IKBKG, NFKB1
27
Show member pathways
8.7CHUK, IKBKG, NFKB1
288.7CHUK, IKBKG, NFKB1
298.7CHUK, IKBKG, NFKB1
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8.7CHUK, IKBKG, NFKB1
31
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8.7CHUK, IKBKG, NFKB1
32
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8.7CHUK, IKBKG, NFKB1
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8.7CHUK, IKBKG, NFKB1
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8.7CHUK, IKBKG, NFKB1
378.7CHUK, IKBKG, NFKB1
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8.7CHUK, IKBKG, NFKB1
398.7CHUK, IKBKG, NFKB1
40
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8.7CHUK, IKBKG, NFKB1
41
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8.7CHUK, IKBKG, NFKB1
42
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8.5CHUK, NFKB1, TRAF6
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8.5CHUK, NFKB1, TRAF6
44
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8.1CHUK, IKBKG, NFKB1, TRAF6
45
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8.1CHUK, IKBKG, NFKB1, TRAF6
46
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
47
Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
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Show member pathways
8.1CHUK, IKBKG, NFKB1, TRAF6
49
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8.1CHUK, IKBKG, NFKB1, TRAF6
508.1CHUK, 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
1CD40 receptor complexGO:00356319.8CHUK, TRAF6
2cytoplasmic side of plasma membraneGO:00098989.6CHUK, TRAF6
3IkappaB kinase complexGO:00083859.5CHUK, IKBKG

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1JNK cascadeGO:000725410.2IKBKG, TRAF6
2regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.2CHUK, IKBKG
3NIK/NF-kappaB signalingGO:00380619.9CHUK, NFKB1
4membrane protein intracellular domain proteolysisGO:00312939.8NFKB1, TRAF6
5immune responseGO:00069559.7CHUK, IKBKG, TRAF6
6nucleotide-binding oligomerization domain containing signaling pathwayGO:00704239.7CHUK, IKBKG, TRAF6
7positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.6CHUK, IKBKG, TRAF6
8TRIF-dependent toll-like receptor signaling pathwayGO:00356669.5CHUK, IKBKG
9inflammatory responseGO:00069549.5CHUK, IKBKG, NFKB1
10innate immune responseGO:00450879.5CHUK, IKBKG, NFKB1
11stress-activated MAPK cascadeGO:00514039.3CHUK, IKBKG, NFKB1
12Fc-epsilon receptor signaling pathwayGO:00380958.9CHUK, IKBKG, NFKB1, TRAF6
13I-kappaB kinase/NF-kappaB signalingGO:00072498.9CHUK, IKBKG, NFKB1, TRAF6
14positive regulation of NF-kappaB transcription factor activityGO:00510928.8CHUK, IKBKG, NFKB1, TRAF6
15positive regulation of transcription from RNA polymerase II promoterGO:00459448.7CHUK, IKBKG, NFKB1, TRAF6
16stimulatory C-type lectin receptor signaling pathwayGO:00022238.7CHUK, IKBKG, NFKB1, TRAF6
17T cell receptor signaling pathwayGO:00508528.5CHUK, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet