IP
MCID: INC021
MIFTS: 59

Incontinentia Pigmenti (IP) malady

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

Aliases & Classifications for Incontinentia Pigmenti

Aliases & Descriptions for Incontinentia Pigmenti:

Name: Incontinentia Pigmenti 54 12 71 23 50 24 25 51 56 66 52 42
Bloch-Sulzberger Syndrome 12 23 50 24 25 51 56 66 14
Ip 50 24 25 66
Incontinentia Pigmenti, Familial Male-Lethal Type 50 69
Incontinentia Pigmenti Syndrome 12 29
Bloch-Siemens Syndrome 25 56
Familial Incontinentia Pigmenti Male-Lethal Type 66
Familial Incontinentia Pigmenti Type Ii 66
Incontinentia Pigmenti Achromians 69
Bloch-Siemens-Sulzberger Syndrome 25
Bloch Sulzberger Syndrome 69
Ip2 66

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
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:

OMIM 54 308300
Disease Ontology 12 DOID:12305
ICD10 33 Q82.3
MeSH 42 D007184
NCIt 47 C84787
Orphanet 56 ORPHA464
MESH via Orphanet 43 D007184
ICD10 via Orphanet 34 Q82.3
UMLS 69 C0021171

Summaries for Incontinentia Pigmenti

NINDS : 51 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 seizures, finger syndactyly and hyperhidrosis. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include skin, eye and heart, and related phenotypes are Downregulation of NF-kappaB pathway after TNFalpha stimulation and integument

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 66 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.

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.

OMIM : 54 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...

Wikipedia : 71 Incontinentia pigmenti (IP, also known as \"Bloch–Siemens syndrome,\" \"Bloch–Sulzberger disease,\"... more...

GeneReviews: NBK1472

Related Diseases for Incontinentia Pigmenti

Diseases related to Incontinentia Pigmenti via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
id Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 12.2
2 congenital disorder of glycosylation, type ip 12.0
3 ichthyosis prematurity syndrome 11.6
4 reticulate acropigmentation of kitamura 11.1
5 nevoid hypermelanosis, linear and whorled 11.1
6 ectodermal dysplasia 10.3
7 retinitis 10.2
8 amyloidosis 10.1
9 keratoacanthoma 10.1
10 cerebritis 10.1
11 macular amyloidosis 10.1
12 end stage renal failure 10.0 CHUK IKBKG
13 klinefelter's syndrome 10.0
14 herpes simplex 10.0
15 encephalocele 10.0
16 pulmonary hypertension 10.0
17 neonatal herpes 10.0
18 squamous cell carcinoma 10.0
19 neuronitis 10.0
20 orofacial cleft 6 10.0 CHUK IKBKG
21 endotheliitis 9.9
22 hurst hallam hockey syndrome 9.8 CHUK NFKB1
23 conversion disorder 9.8
24 acute disseminated encephalomyelitis 9.8
25 cerebral atrophy 9.8
26 leukemia 9.8
27 melanoma 9.8
28 encephalopathy 9.8
29 lymphedema 9.8
30 pyoderma gangrenosum 9.8
31 birt-hogg-dube syndrome 9.8
32 norrie disease 9.8
33 osteopetrosis 9.8
34 dermatitis 9.8
35 vasculitis 9.8
36 acheiria 9.8
37 fabry disease 9.8
38 dyskeratosis congenita 9.8
39 primary cutaneous amyloidosis 9.8
40 encephalitis 9.8
41 anhidrosis 9.8
42 atopic dermatitis 9.8
43 retinal vasculitis 9.8
44 purpura 9.8
45 alopecia 9.8
46 hansen's disease 9.8
47 urticaria pigmentosa 9.8
48 hemihypertrophy 9.8
49 brain injury 9.8
50 anodontia 9.8

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



Diseases related to Incontinentia Pigmenti

Symptoms & Phenotypes for Incontinentia Pigmenti

Symptoms by clinical synopsis from OMIM:

308300

Clinical features from OMIM:

308300

Human phenotypes related to Incontinentia Pigmenti:

56 32 (show top 50) (show all 86)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
3 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
4 intellectual disability 56 32 Occasional (29-5%) HP:0001249
5 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
6 spasticity 56 32 Occasional (29-5%) HP:0001257
7 gait disturbance 56 32 Frequent (79-30%) HP:0001288
8 encephalitis 56 32 Occasional (29-5%) HP:0002383
9 scoliosis 56 32 Frequent (79-30%) HP:0002650
10 cataract 56 32 Occasional (29-5%) HP:0000518
11 global developmental delay 56 32 Occasional (29-5%) HP:0001263
12 corneal opacity 56 32 Frequent (79-30%) HP:0007957
13 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
14 visual impairment 56 32 Frequent (79-30%) HP:0000505
15 short stature 56 32 Frequent (79-30%) HP:0004322
16 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
17 hyperkeratosis 56 32 Frequent (79-30%) HP:0000962
18 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
19 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
20 strabismus 56 32 Frequent (79-30%) HP:0000486
21 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
22 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
23 hearing abnormality 56 32 Frequent (79-30%) HP:0000364
24 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
25 skin ulcer 56 32 Frequent (79-30%) HP:0200042
26 hypopigmented skin patches 56 32 Very frequent (99-80%) HP:0001053
27 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
28 cerebral ischemia 56 32 Occasional (29-5%) HP:0002637
29 keratitis 56 32 Occasional (29-5%) HP:0000491
30 microphthalmia 56 32 Occasional (29-5%) HP:0000568
31 retinal detachment 56 32 Occasional (29-5%) HP:0000541
32 irregular hyperpigmentation 56 32 Very frequent (99-80%) HP:0007400
33 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682
34 erythema 56 32 Very frequent (99-80%) HP:0010783
35 skin rash 56 32 Very frequent (99-80%) HP:0000988
36 alopecia 56 32 Frequent (79-30%) HP:0001596
37 hypodontia 56 32 Very frequent (99-80%) HP:0000668
38 spina bifida occulta 56 32 Occasional (29-5%) HP:0003298
39 abnormality of dental morphology 56 32 Frequent (79-30%) HP:0006482
40 osteolysis 56 32 Frequent (79-30%) HP:0002797
41 chorioretinal abnormality 56 32 Occasional (29-5%) HP:0000532
42 abnormality of skin pigmentation 56 32 Very frequent (99-80%) HP:0001000
43 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
44 blue sclerae 56 32 Occasional (29-5%) HP:0000592
45 supernumerary ribs 56 32 Frequent (79-30%) HP:0005815
46 hypoplastic fingernail 56 32 Very frequent (99-80%) HP:0001804
47 oral cleft 56 32 Frequent (79-30%) HP:0000202
48 asymmetric growth 56 32 Frequent (79-30%) HP:0100555
49 deviation of finger 56 32 Frequent (79-30%) HP:0004097
50 uveitis 56 32 Occasional (29-5%) HP:0000554

UMLS symptoms related to Incontinentia Pigmenti:


muscle spasticity, seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.8 CHUK IKBKG TRAF6

MGI Mouse Phenotypes related to Incontinentia Pigmenti:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 CHUK DKC1 IKBKG NFKB1 TRAF6
2 liver/biliary system MP:0005370 8.92 CHUK IKBKG NFKB1 TRAF6

Drugs & Therapeutics for Incontinentia Pigmenti

Interventional clinical trials:


id Name Status NCT ID Phase
1 Role of Pseudogene in Incontinentia Pigmenti, and Its Potential Treatment Completed NCT00976586

Search NIH Clinical Center for Incontinentia Pigmenti

Cochrane evidence based reviews: incontinentia pigmenti

Genetic Tests for Incontinentia Pigmenti

Genetic tests related to Incontinentia Pigmenti:

id Genetic test Affiliating Genes
1 Incontinentia Pigmenti Syndrome 29
2 Incontinentia Pigmenti 24 IKBKG

Anatomical Context for Incontinentia Pigmenti

MalaCards organs/tissues related to Incontinentia Pigmenti:

39
Skin, Eye, Heart, Brain, Cortex, Breast, T Cells

Publications for Incontinentia Pigmenti

Articles related to Incontinentia Pigmenti:

(show top 50) (show all 207)
id Title Authors Year
1
ASSESSMENT OF THE RETINAL STRUCTURE IN CHILDREN WITH INCONTINENTIA PIGMENTI. ( 28085775 )
2017
2
Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti? ( 28394857 )
2017
3
Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report. ( 28533687 )
2017
4
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-I_B activation and leads to incontinentia pigmenti. ( 28249776 )
2017
5
Keratoacanthoma-Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate. ( 28414858 )
2017
6
Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti. ( 26706482 )
2016
7
Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti. ( 27121774 )
2016
8
Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti. ( 27173419 )
2016
9
Incontinentia Pigmenti presenting as a newborn eruption: two case presentations. ( 27617597 )
2016
10
Incontinentia pigmenti with retinal vascular anomaly and deletion of exons 4-10 in NEMO. ( 27666948 )
2016
11
Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti. ( 26777982 )
2016
12
Incontinentia pigmenti in a father and daughter. ( 27037530 )
2016
13
Brain injury in neonatal incontinentia pigmenti: the role of multimodality neuroimaging. ( 27169815 )
2016
14
Distal Digital Keratoacanthoma in Patients With Incontinentia Pigmenti. ( 26614487 )
2016
15
The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti. ( 27297972 )
2016
16
SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI BY INTRAVITREAL RANIBIZUMAB AS ADJUNCT THERAPY IN A 4-YEAR-OLD CHILD. ( 27472514 )
2016
17
Novel Macular Findings on Optical Coherence Tomography in Incontinentia Pigmenti. ( 27832283 )
2016
18
Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti. ( 27586688 )
2016
19
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
20
Incontinentia Pigmenti. ( 27349142 )
2016
21
Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report. ( 27412134 )
2016
22
A Multidisciplinary Approach to a Seven Year-Old Patient with Incontinentia Pigmenti: A Case Report and Five-Year Follow Up. ( 28127322 )
2016
23
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
24
Incontinentia Pigmenti Coxsackium. ( 27396921 )
2016
25
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. ( 27602400 )
2016
26
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
27
VARIABLE EXPRESSION OF RETINOPATHY IN A PEDIGREE OF PATIENTS WITH INCONTINENTIA PIGMENTI. ( 26035514 )
2015
28
Incontinentia Pigmenti: A Comprehensive Review and Update. ( 26114846 )
2015
29
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy. ( 26658971 )
2015
30
Flare-up of incontinentia pigmenti in association with BehAset disease. ( 25631134 )
2015
31
A case of incontinentia pigmenti reactivation after 12-month immunizations. ( 27051777 )
2015
32
Incontinentia pigmenti (Bloch-Sulzberger syndrome). ( 26564087 )
2015
33
Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment. ( 25695859 )
2015
34
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. ( 25944529 )
2015
35
Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti. ( 26437686 )
2015
36
Clinical study of 20 patients with incontinentia pigmenti. ( 26547887 )
2015
37
Unique subungueal keratoacanthoma revealing incontinentia pigmenti. ( 26387562 )
2015
38
Incontinentia pigmenti: a rare genodermatosis in a male child. ( 25859498 )
2015
39
Bloch Sulzberger syndrome (Incontinentia Pigmenti): a rare case report with dental defects. ( 25572380 )
2015
40
Two Cases of Cerebrovascular Accidents in Neonates With Incontinentia Pigmenti. ( 26228707 )
2015
41
Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti. ( 26043102 )
2015
42
A Novel Frameshift Mutation of the IKBKG Gene Causing Typical Incontinentia Pigmenti. ( 26946775 )
2015
43
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. ( 26117626 )
2015
44
A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti. ( 25599040 )
2014
45
Controversies over subungual tumors in incontinentia pigmenti. ( 25255281 )
2014
46
Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti. ( 25737924 )
2014
47
Genomic analysis of a girl with incontinentia pigmenti but without NEMO mutation. ( 24487970 )
2014
48
Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis. ( 24937825 )
2014
49
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. ( 24339369 )
2014
50
Multiple subungual squamous cell carcinomas in a patient with incontinentia pigmenti. ( 25255282 )
2014

Variations for Incontinentia Pigmenti

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

66
id Symbol AA change Variation ID SNP ID
1 IKBKG p.Met407Val VAR_009182 rs137853322
2 IKBKG p.Glu57Lys VAR_026491 rs148695964
3 IKBKG p.Arg123Trp VAR_026494 rs179363895
4 IKBKG p.Ala323Pro VAR_042666 rs179363865
5 IKBKG p.Leu170Pro VAR_072603
6 IKBKG p.Arg173Gln VAR_072604
7 IKBKG p.Gln183His VAR_072605
8 IKBKG p.Ala314Pro VAR_072606
9 IKBKG p.Leu322Pro VAR_072607
10 IKBKG p.His413Tyr VAR_072608

ClinVar genetic disease variations for Incontinentia Pigmenti:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG IKBKG, EXON 4-10 DEL deletion Pathogenic
2 IKBKG IKBKG, 1-BP INS, 1110C insertion Pathogenic
3 IKBKG NM_003639.4(IKBKG): c.1219A> G (p.Met407Val) single nucleotide variant Pathogenic rs137853322 GRCh37 Chromosome X, 153792635: 153792635
4 IKBKG NM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp) single nucleotide variant Pathogenic rs137853321 GRCh37 Chromosome X, 153792675: 153792675
5 IKBKG IKBKG, 10-BP INS, NT127 insertion Pathogenic
6 IKBKG NM_003639.4(IKBKG): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs137853323 GRCh37 Chromosome X, 153780401: 153780401

Copy number variations for Incontinentia Pigmenti from CNVD:

7 (show top 50) (show all 103)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 19610 1 150822873 150853058 Copy number LCE3B Incontinentia Pigmenti
2 19611 1 150822873 150853058 Copy number LCE3C Incontinentia Pigmenti
3 22565 1 167493568 167508098 Copy number NME7 Incontinentia Pigmenti
4 36201 1 72538943 72579511 Copy number Incontinentia Pigmenti
5 55615 11 55118014 55209826 Copy number OR4C11 Incontinentia Pigmenti
6 55616 11 55118014 55209826 Copy number OR4C6 Incontinentia Pigmenti
7 55617 11 55118014 55209826 Copy number OR4P4 Incontinentia Pigmenti
8 55618 11 55118014 55209826 Copy number OR4S2 Incontinentia Pigmenti
9 62743 12 11109283 11147875 Copy number PRH1 Incontinentia Pigmenti
10 62744 12 11109283 11147875 Copy number PRR4 Incontinentia Pigmenti
11 62745 12 11109283 11147875 Copy number TAS2R43 Incontinentia Pigmenti
12 73681 12 9528390 9610254 Copy number Incontinentia Pigmenti
13 82980 14 18864361 19494616 Copy number OR4K1 Incontinentia Pigmenti
14 82981 14 18864361 19494616 Copy number OR4K2 Incontinentia Pigmenti
15 82982 14 18864361 19494616 Copy number OR4K5 Incontinentia Pigmenti
16 82983 14 18864361 19494616 Copy number OR4M1 Incontinentia Pigmenti
17 82984 14 18864361 19494616 Copy number OR4N2 Incontinentia Pigmenti
18 82985 14 18864361 19494616 Copy number OR4Q3 Incontinentia Pigmenti
19 82986 14 18864361 19494616 Copy number P704P Incontinentia Pigmenti
20 89565 15 18692665 20088456 Copy number CXADRP2 Incontinentia Pigmenti
21 89566 15 18692665 20088456 Copy number GOLGA8C Incontinentia Pigmenti
22 89567 15 18692665 20088456 Copy number LOC646214 Incontinentia Pigmenti
23 89568 15 18692665 20088456 Copy number LOC727924 Incontinentia Pigmenti
24 89569 15 18692665 20088456 Copy number OR4M2 Incontinentia Pigmenti
25 89570 15 18692665 20088456 Copy number OR4N4 Incontinentia Pigmenti
26 89571 15 18692665 20088456 Copy number POTEB Incontinentia Pigmenti
27 110121 17 31461388 31891735 Copy number CCL3L1 Incontinentia Pigmenti
28 110122 17 31461388 31891735 Copy number CCL3L3 Incontinentia Pigmenti
29 110123 17 31461388 31891735 Copy number CCL4L1 Incontinentia Pigmenti
30 110124 17 31461388 31891735 Copy number CCL4L2 Incontinentia Pigmenti
31 110125 17 31461388 31891735 Copy number TBC1D3B Incontinentia Pigmenti
32 110126 17 31461388 31891735 Copy number TBC1D3C Incontinentia Pigmenti
33 110127 17 31461388 31891735 Copy number TBC1D3H Incontinentia Pigmenti
34 111696 17 36675787 36684819 Copy number Incontinentia Pigmenti
35 112921 17 41521344 42143248 Copy number ARL17 Incontinentia Pigmenti
36 112922 17 41521344 42143248 Copy number ARL17P1 Incontinentia Pigmenti
37 112923 17 41521344 42143248 Copy number KIAA1267 Incontinentia Pigmenti
38 112924 17 41521344 42143248 Copy number LRRC37A Incontinentia Pigmenti
39 112925 17 41521344 42143248 Copy number LRRC37A2 Incontinentia Pigmenti
40 112926 17 41521344 42143248 Copy number NSF Incontinentia Pigmenti
41 145112 2 34551022 34590197 Copy number Incontinentia Pigmenti
42 162833 22 22677759 22735236 Copy number GSTT1 Incontinentia Pigmenti
43 162834 22 22677759 22735236 Copy number GSTTP2 Incontinentia Pigmenti
44 162835 22 22677759 22735236 Copy number LOC391322 Incontinentia Pigmenti
45 164550 22 37685296 37715585 Copy number APOBEC3A Incontinentia Pigmenti
46 164551 22 37685296 37715585 Copy number APOBEC3B Incontinentia Pigmenti
47 171207 3 163997028 164108151 Copy number Incontinentia Pigmenti
48 188863 4 69069451 69166014 Copy number UGT2B17 Incontinentia Pigmenti
49 211014 6 31900000 33600000 Copy number Incontinentia Pigmenti
50 211298 6 32558477 32650872 Copy number HLA-DRB5 Incontinentia Pigmenti

Expression for Incontinentia Pigmenti

Search GEO for disease gene expression data for Incontinentia Pigmenti.

Pathways for Incontinentia Pigmenti

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

(show top 50) (show all 99)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 CHUK IKBKG NFKB1 TRAF6
2
Show member pathways
13.18 CHUK IKBKG NFKB1 TRAF6
3
Show member pathways
13.04 CHUK IKBKG NFKB1 TRAF6
4
Show member pathways
12.87 CHUK IKBKG NFKB1 TRAF6
5
Show member pathways
12.8 CHUK IKBKG NFKB1 TRAF6
6
Show member pathways
12.73 CHUK IKBKG NFKB1
7
Show member pathways
12.72 CHUK IKBKG NFKB1 TRAF6
8
Show member pathways
12.7 CHUK IKBKG NFKB1 TRAF6
9
Show member pathways
12.7 CHUK IKBKG NFKB1 TRAF6
10
Show member pathways
12.64 CHUK IKBKG NFKB1 TRAF6
11 12.62 CHUK IKBKG NFKB1 TRAF6
12
Show member pathways
12.61 CHUK IKBKG NFKB1 TRAF6
13
Show member pathways
12.59 CHUK IKBKG NFKB1
14
Show member pathways
12.59 CHUK IKBKG NFKB1
15 12.58 CHUK IKBKG NFKB1 TRAF6
16
Show member pathways
12.58 CHUK IKBKG NFKB1 TRAF6
17
Show member pathways
12.53 CHUK IKBKG NFKB1
18
Show member pathways
12.53 CHUK IKBKG NFKB1 TRAF6
19
Show member pathways
12.5 CHUK IKBKG NFKB1
20
Show member pathways
12.48 CHUK IKBKG NFKB1
21
Show member pathways
12.48 CHUK IKBKG NFKB1
22 12.47 CHUK IKBKG NFKB1
23
Show member pathways
12.47 CHUK IKBKG NFKB1
24
Show member pathways
12.47 CHUK IKBKG NFKB1
25 12.47 CHUK IKBKG NFKB1 TRAF6
26
Show member pathways
12.43 CHUK IKBKG NFKB1
27
Show member pathways
12.38 CHUK IKBKG NFKB1
28
Show member pathways
12.37 CHUK IKBKG NFKB1
29
Show member pathways
12.37 CHUK IKBKG NFKB1 TRAF6
30
Show member pathways
12.36 CHUK IKBKG NFKB1 TRAF6
31
Show member pathways
12.36 CHUK IKBKG NFKB1 TRAF6
32
Show member pathways
12.35 CHUK IKBKG NFKB1 TRAF6
33
Show member pathways
12.34 CHUK IKBKG NFKB1
34 12.33 CHUK IKBKG NFKB1
35
Show member pathways
12.31 CHUK IKBKG NFKB1
36
Show member pathways
12.31 CHUK IKBKG NFKB1 TRAF6
37
Show member pathways
12.3 CHUK IKBKG NFKB1 TRAF6
38
Show member pathways
12.29 CHUK IKBKG NFKB1
39
Show member pathways
12.27 CHUK IKBKG NFKB1
40
Show member pathways
12.27 CHUK IKBKG NFKB1 TRAF6
41
Show member pathways
12.25 CHUK IKBKG NFKB1
42
Show member pathways
12.25 CHUK IKBKG NFKB1 TRAF6
43
Show member pathways
12.24 CHUK IKBKG NFKB1
44
Show member pathways
12.22 CHUK IKBKG NFKB1 TRAF6
45 12.21 CHUK IKBKG NFKB1 TRAF6
46
Show member pathways
12.18 CHUK IKBKG NFKB1 TRAF6
47
Show member pathways
12.17 CHUK IKBKG NFKB1 TRAF6
48
Show member pathways
12.16 CHUK IKBKG NFKB1 TRAF6
49
Show member pathways
12.16 CHUK IKBKG NFKB1 TRAF6
50
Show member pathways
12.14 CHUK NFKB1 TRAF6

GO Terms for Incontinentia Pigmenti

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of plasma membrane GO:0009898 9.16 CHUK TRAF6
2 IkappaB kinase complex GO:0008385 8.96 CHUK IKBKG
3 CD40 receptor complex GO:0035631 8.62 CHUK TRAF6

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.81 CHUK IKBKG NFKB1 TRAF6
2 innate immune response GO:0045087 9.75 CHUK IKBKG NFKB1
3 immune response GO:0006955 9.74 CHUK IKBKG TRAF6
4 inflammatory response GO:0006954 9.71 CHUK IKBKG NFKB1
5 Fc-epsilon receptor signaling pathway GO:0038095 9.71 CHUK IKBKG NFKB1 TRAF6
6 T cell receptor signaling pathway GO:0050852 9.67 CHUK IKBKG NFKB1 TRAF6
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.61 CHUK IKBKG TRAF6
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.56 CHUK IKBKG
9 NIK/NF-kappaB signaling GO:0038061 9.55 CHUK NFKB1
10 JNK cascade GO:0007254 9.52 IKBKG TRAF6
11 stress-activated MAPK cascade GO:0051403 9.5 CHUK IKBKG NFKB1
12 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.49 CHUK IKBKG
13 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.48 CHUK IKBKG
14 membrane protein intracellular domain proteolysis GO:0031293 9.46 NFKB1 TRAF6
15 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.46 CHUK IKBKG NFKB1 TRAF6
16 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.43 CHUK IKBKG TRAF6
17 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.26 CHUK IKBKG NFKB1 TRAF6
18 I-kappaB kinase/NF-kappaB signaling GO:0007249 8.92 CHUK IKBKG NFKB1 TRAF6

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

id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 8.8 CHUK IKBKG NFKB1

Sources for Incontinentia Pigmenti

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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