MCID: INC021
MIFTS: 57

Incontinentia Pigmenti

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

Aliases & Classifications for Incontinentia Pigmenti

MalaCards integrated aliases for Incontinentia Pigmenti:

Name: Incontinentia Pigmenti 53 12 72 72 23 49 24 50 55 71 36 51 41
Bloch-Sulzberger Syndrome 53 12 23 49 24 50 55 71 14
Ip 53 49 24 71
Incontinentia Pigmenti, Familial Male-Lethal Type 53 49 69
Incontinentia Pigmenti Syndrome 12 28
Bloch-Siemens Syndrome 24 55
Incontinentia Pigmenti, Type Ii, Formerly; Ip2, Formerly 53
Familial Incontinentia Pigmenti Male-Lethal Type 71
Incontinentia Pigmenti, Type Ii, Formerly 53
Familial Incontinentia Pigmenti Type Ii 71
Incontinentia Pigmenti Achromians 69
Bloch-Siemens-Sulzberger Syndrome 24
Bloch Sulzberger Syndrome 69
Ip2, Formerly 53
Ip2 71

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
x-linked dominant


HPO:

31
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:



Summaries for Incontinentia Pigmenti

NINDS : 50 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 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and hypomelanosis of ito, 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 MAPK signaling pathway and Chemokine 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 : 49 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 : 53 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males (The International Incontinentia Pigmenti Consortium, 2000). In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The prominent skin signs occur in 4 classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation, and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. Also see hypomelanosis of Ito (300337), which was formerly designated incontinentia pigmenti type I (IP1). (308300)

UniProtKB/Swiss-Prot : 71 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.

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 91)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 29.6 CHUK IKBKG
2 hypomelanosis of ito 12.5
3 congenital disorder of glycosylation, type ip 12.1
4 ichthyosis prematurity syndrome 11.7
5 nevoid hypermelanosis, linear and whorled 11.2
6 reticulate acropigmentation of kitamura 11.2
7 lymphoma, hodgkin, classic 10.9
8 ectodermal dysplasia 10.4
9 retinitis 10.3
10 keratoacanthoma 10.2
11 cerebritis 10.2
12 amyloidosis 10.2
13 macular amyloidosis 10.2
14 neuronitis 10.1
15 episodic pain syndrome, familial, 1 10.1
16 pulmonary hypertension 10.1
17 alopecia 10.1
18 hypogonadotropic hypogonadism 10.1
19 squamous cell carcinoma 10.1
20 herpes simplex 10.1
21 encephalocele 10.1
22 neonatal herpes 10.1
23 endotheliitis 9.9
24 beckwith-wiedemann syndrome 9.9
25 birt-hogg-dube syndrome 9.9
26 hypercalcemia, infantile, 1 9.9
27 nail disorder, nonsyndromic congenital, 1 9.9
28 nipples, supernumerary 9.9
29 pulmonary hypertension, primary, 1 9.9
30 retinal detachment 9.9
31 retinoblastoma 9.9
32 anodontia of permanent dentition 9.9
33 chondrodysplasia punctata syndrome 9.9
34 fanconi anemia, complementation group a 9.9
35 hemihyperplasia, isolated 9.9
36 insensitivity to pain, congenital, with anhidrosis 9.9
37 fabry disease 9.9
38 norrie disease 9.9
39 asthma 9.9
40 wilms tumor 5 9.9
41 dermatitis, atopic 9.9
42 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
43 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 9.9
44 wilms tumor 6 9.9
45 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
46 brain injury 9.9
47 cerebral palsy 9.9
48 leukemia 9.9
49 lymphedema 9.9
50 osteopetrosis 9.9

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



Diseases related to Incontinentia Pigmenti

Symptoms & Phenotypes for Incontinentia Pigmenti

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
spasticity
mental retardation

Head And Neck Head:
microcephaly

Skin Nails Hair Nails:
nail dystrophy
nail pitting
nail ridging
onychogryposis
subungual keratotic tumors

Skeletal Spine:
hemivertebrae
kyphoscoliosis

Chest RibsSternum Clavicles And Scapulae:
extra ribs

Skin Nails Hair Hair:
atrophic, patchy alopecia (vertex)
wiry, coarse hair (childhood)
thin, sparse hair (childhood)

Head And Neck Eyes:
cataract
optic atrophy
strabismus
keratitis
retinal detachment
more
Growth Height:
short stature

Head And Neck Teeth:
hypodontia
delayed eruption
conical forms
accessory cusps

Chest Breasts:
supernumerary nipple
breast aplasia
breast hypoplasia
nipple hypoplasia

Skin Nails Hair Skin:
stage 1 - skin erythema, vesicles, pustules
onset birth-newborn period
affects limbs and trunk
occurs in linear distribution
stage 2 - skin papules, verrucous lesions, hyperkeratosis
more
Hematology:
leukocytosis with eosinophilia during stage 1


Clinical features from OMIM:

308300

Human phenotypes related to Incontinentia Pigmenti:

55 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
3 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
4 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
5 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
6 spasticity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001257
7 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
8 encephalitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002383
9 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
10 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
12 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
13 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
14 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
15 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
16 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
17 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
18 hyperkeratosis 55 31 frequent (33%) Frequent (79-30%) HP:0000962
19 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
20 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
21 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
22 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
23 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
24 hearing abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000364
25 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
26 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
27 skin ulcer 55 31 frequent (33%) Frequent (79-30%) HP:0200042
28 hypopigmented skin patches 55 31 hallmark (90%) Very frequent (99-80%) HP:0001053
29 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
30 cerebral ischemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002637
31 keratitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000491
32 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
33 telangiectasia of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0100585
34 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541
35 irregular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007400
36 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
37 erythema 55 31 hallmark (90%) Very frequent (99-80%) HP:0010783
38 skin rash 55 31 hallmark (90%) Very frequent (99-80%) HP:0000988
39 hypodontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000668
40 spina bifida occulta 55 31 occasional (7.5%) Occasional (29-5%) HP:0003298
41 abnormality of dental morphology 55 31 frequent (33%) Frequent (79-30%) HP:0006482
42 osteolysis 55 31 frequent (33%) Frequent (79-30%) HP:0002797
43 abnormality of skin pigmentation 55 31 Very frequent (99-80%) HP:0001000
44 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
45 blue sclerae 55 31 occasional (7.5%) Occasional (29-5%) HP:0000592
46 supernumerary ribs 55 31 frequent (33%) Frequent (79-30%) HP:0005815
47 hypoplastic fingernail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001804
48 oral cleft 55 31 frequent (33%) Frequent (79-30%) HP:0000202
49 asymmetric growth 55 31 frequent (33%) Frequent (79-30%) HP:0100555
50 deviation of finger 55 31 frequent (33%) Frequent (79-30%) HP:0004097

UMLS symptoms related to Incontinentia Pigmenti:


seizures, muscle spasticity

Drugs & Therapeutics for Incontinentia Pigmenti

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Incontinentia Pigmenti Syndrome 28 IKBKG

Anatomical Context for Incontinentia Pigmenti

MalaCards organs/tissues related to Incontinentia Pigmenti:

38
Skin, Eye, Heart, Brain, Cortex, Breast, T Cells

Publications for Incontinentia Pigmenti

Articles related to Incontinentia Pigmenti:

(show top 50) (show all 224)
# Title Authors Year
1
Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus. ( 29171168 )
2018
2
Cardiopulmonary anomalies in incontinentia pigmenti patients. ( 29197078 )
2018
3
Whorled Scarring Alopecia - The Only Adult Marker of Incontinentia Pigmenti. ( 29440854 )
2018
4
Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti? ( 28394857 )
2017
5
Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome. ( 28937389 )
2017
6
Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). ( 28729805 )
2017
7
Keratoacanthoma-Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate. ( 28414858 )
2017
8
Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. ( 28794079 )
2017
9
A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage. ( 28643725 )
2017
10
Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield. ( 29077987 )
2017
11
A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus. ( 29344471 )
2017
12
Incontinentia Pigmenti: AA Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols. ( 28870493 )
2017
13
Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease. ( 28785344 )
2017
14
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. ( 28702714 )
2017
15
Incontinentia pigmenti with secondary Raynaud's phenomenon: A case report and review of the literature. ( 29260049 )
2017
16
Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report. ( 28533687 )
2017
17
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti. ( 28711407 )
2017
18
Gene therapy decreases seizures in a model of Incontinentia pigmenti. ( 28628231 )
2017
19
Incontinentia pigmenti in a child with suspected retinoblastoma. ( 28932485 )
2017
20
Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years. ( 28791733 )
2017
21
ASSESSMENT OF THE RETINAL STRUCTURE IN CHILDREN WITH INCONTINENTIA PIGMENTI. ( 28085775 )
2017
22
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-I_B activation and leads to incontinentia pigmenti. ( 28249776 )
2017
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
Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti. ( 26777982 )
2016
25
Incontinentia pigmenti in a father and daughter. ( 27037530 )
2016
26
Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti. ( 27173419 )
2016
27
Distal Digital Keratoacanthoma in Patients With Incontinentia Pigmenti. ( 26614487 )
2016
28
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. ( 27602400 )
2016
29
Incontinentia pigmenti with retinal vascular anomaly and deletion of exons 4-10 in NEMO. ( 27666948 )
2016
30
Novel Macular Findings on Optical Coherence Tomography in Incontinentia Pigmenti. ( 27832283 )
2016
31
A Multidisciplinary Approach to a Seven Year-Old Patient with Incontinentia Pigmenti: A Case Report and Five-Year Follow Up. ( 28127322 )
2016
32
Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report. ( 27412134 )
2016
33
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
34
Incontinentia Pigmenti. ( 27349142 )
2016
35
Brain injury in neonatal incontinentia pigmenti: the role of multimodality neuroimaging. ( 27169815 )
2016
36
Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti. ( 27121774 )
2016
37
Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti. ( 27586688 )
2016
38
SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI BY INTRAVITREAL RANIBIZUMAB AS ADJUNCT THERAPY IN A 4-YEAR-OLD CHILD. ( 27472514 )
2016
39
Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti. ( 26706482 )
2016
40
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
41
The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti. ( 27297972 )
2016
42
Incontinentia Pigmenti Coxsackium. ( 27396921 )
2016
43
Incontinentia Pigmenti presenting as a newborn eruption: two case presentations. ( 27617597 )
2016
44
Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti. ( 26437686 )
2015
45
Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment. ( 25695859 )
2015
46
Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti. ( 26043102 )
2015
47
Two Cases of Cerebrovascular Accidents in Neonates With Incontinentia Pigmenti. ( 26228707 )
2015
48
Incontinentia Pigmenti: A Comprehensive Review and Update. ( 26114846 )
2015
49
Incontinentia pigmenti: a rare genodermatosis in a male child. ( 25859498 )
2015
50
A case of incontinentia pigmenti reactivation after 12-month immunizations. ( 27051777 )
2015

Variations for Incontinentia Pigmenti

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

71
# 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
# 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)
# 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 KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Chemokine signaling pathway hsa04062
3 Apoptosis hsa04210
4 Osteoclast differentiation hsa04380
5 T cell receptor signaling pathway hsa04660
6 B cell receptor signaling pathway hsa04662
7 Adipocytokine signaling pathway hsa04920

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 CHUK IKBKG
2 11.63 CHUK IKBKG
3 11.57 CHUK IKBKG
4
Show member pathways
11.55 CHUK IKBKG
5 11.54 CHUK IKBKG
6
Show member pathways
11.49 CHUK IKBKG
7
Show member pathways
11.42 CHUK IKBKG
8 11.38 CHUK IKBKG
9
Show member pathways
11.34 CHUK IKBKG
10 11.32 CHUK IKBKG
11 11.23 CHUK IKBKG
12
Show member pathways
11.18 CHUK IKBKG
13
Show member pathways
11.1 CHUK IKBKG
14 11.07 CHUK IKBKG
15 10.92 CHUK IKBKG
16 10.78 CHUK IKBKG
17 10.75 CHUK IKBKG
18 10.68 CHUK IKBKG
19 10.62 CHUK IKBKG
20 10.48 CHUK IKBKG
21 10.03 CHUK IKBKG
22 9.58 CHUK IKBKG

GO Terms for Incontinentia Pigmenti

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

# Name GO ID Score Top Affiliating Genes
1 IkappaB kinase complex GO:0008385 8.62 CHUK IKBKG

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

# Name GO ID Score Top Affiliating Genes
1 response to virus GO:0009615 9.43 CHUK IKBKG
2 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.4 CHUK IKBKG
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.37 CHUK IKBKG
4 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.32 CHUK IKBKG
5 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.26 CHUK IKBKG
6 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.16 CHUK IKBKG
7 stress-activated MAPK cascade GO:0051403 8.96 CHUK IKBKG
8 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 8.62 CHUK IKBKG

Sources for Incontinentia Pigmenti

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