IP
MCID: INC021
MIFTS: 67

Incontinentia Pigmenti (IP)

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

Aliases & Classifications for Incontinentia Pigmenti

MalaCards integrated aliases for Incontinentia Pigmenti:

Name: Incontinentia Pigmenti 57 12 76 24 53 25 54 59 75 37 55 44
Bloch-Sulzberger Syndrome 57 12 24 53 25 54 59 75 15
Ip 57 53 25 75
Incontinentia Pigmenti, Familial Male-Lethal Type 57 53 73
Incontinentia Pigmenti Syndrome 12 29 6
Bloch-Siemens Syndrome 25 59
Incontinentia Pigmenti, Type Ii, Formerly; Ip2, Formerly 57
Familial Incontinentia Pigmenti Male-Lethal Type 75
Incontinentia Pigmenti, Type Ii, Formerly 57
Familial Incontinentia Pigmenti Type Ii 75
Incontinentia Pigmenti Achromians 73
Bloch-Siemens-Sulzberger Syndrome 25
Bloch Sulzberger Syndrome 73
Ip2, Formerly 57
Ip2 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
x-linked dominant


HPO:

32
incontinentia pigmenti:
Inheritance x-linked dominant inheritance


GeneReviews:

24
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 : 54 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 and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including seizures and muscle spasticity. 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 brain, and related phenotypes are finger syndactyly and hyperhidrosis

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 : 53 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.

OMIM : 57 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 : 75 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 : 76 Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair,... 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 265)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 30.6 CHUK EDAR IKBKG
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.0 CHUK EDAR IKBKG TRAF6
3 hypomelanosis of ito 12.6
4 congenital disorder of glycosylation, type ip 12.3
5 ichthyosis prematurity syndrome 12.2
6 nevoid hypermelanosis, linear and whorled 11.7
7 lymphoma, hodgkin, classic 11.4
8 reticulate acropigmentation of kitamura 11.4
9 encephalopathy 10.5
10 herpes simplex 10.4
11 alopecia 10.3
12 keratoacanthoma 10.3
13 amyloidosis 10.3
14 retinoblastoma 10.3
15 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3
16 pulmonary hypertension 10.3
17 retinal vascular disease 10.3
18 viral infectious disease 10.3
19 neonatal herpes 10.3
20 macular amyloidosis 10.3
21 pulmonary hypertension, primary, 1 10.2
22 stroke, ischemic 10.2
23 hypogonadotropic hypogonadism 10.2
24 dermatitis 10.2
25 vasculitis 10.2
26 encephalitis 10.2
27 encephalocele 10.2
28 cerebral atrophy 10.2
29 alzheimer disease 10.1
30 tropical calcific pancreatitis 10.1
31 spinal cord injury 10.1
32 muscular dystrophy 10.0
33 behcet syndrome 10.0
34 beckwith-wiedemann syndrome 10.0
35 birt-hogg-dube syndrome 10.0
36 lacrimal duct defect 10.0
37 systemic lupus erythematosus 10.0
38 mastocytosis, cutaneous 10.0
39 nail disorder, nonsyndromic congenital, 1 10.0
40 noonan syndrome 1 10.0
41 pheochromocytoma 10.0
42 retinal detachment 10.0
43 chondrodysplasia punctata syndrome 10.0
44 fanconi anemia, complementation group a 10.0
45 insensitivity to pain, congenital, with anhidrosis 10.0
46 3-methylglutaconic aciduria, type iii 10.0
47 adrenoleukodystrophy 10.0
48 coats disease 10.0
49 fabry disease 10.0
50 hemophilia a 10.0

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:

57
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 Ribs Sternum 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:

59 32 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
6 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
7 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
8 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
9 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
12 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
13 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
14 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
15 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
16 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
17 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
18 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
19 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
20 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
21 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
22 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
23 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
24 hearing abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000364
25 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
26 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
27 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
28 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
29 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
30 cerebral ischemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002637
31 keratitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000491
32 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
33 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
34 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
35 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
36 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
37 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
38 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
39 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
40 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
41 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
42 osteolysis 59 32 frequent (33%) Frequent (79-30%) HP:0002797
43 abnormality of skin pigmentation 59 32 Very frequent (99-80%) HP:0001000
44 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
45 blue sclerae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000592
46 supernumerary ribs 59 32 frequent (33%) Frequent (79-30%) HP:0005815
47 hypoplastic fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001804
48 oral cleft 59 32 frequent (33%) Frequent (79-30%) HP:0000202
49 asymmetric growth 59 32 frequent (33%) Frequent (79-30%) HP:0100555
50 deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0004097

UMLS symptoms related to Incontinentia Pigmenti:


seizures, muscle spasticity

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 9.13 CHUK IKBKB SHARPIN
2 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.8 CHUK IKBKG TRAF6

MGI Mouse Phenotypes related to Incontinentia Pigmenti:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.19 BGN CHUK EDAR HPRT1 IKBKB IKBKG
2 cardiovascular system MP:0005385 10.09 CHUK EDAR HPRT1 IKBKB IKBKG SHARPIN
3 growth/size/body region MP:0005378 10.08 BGN CHUK EDAR HPRT1 IKBKB IKBKG
4 digestive/alimentary MP:0005381 10.05 CHUK EDAR HPRT1 IKBKB IKBKG SHARPIN
5 immune system MP:0005387 10.03 BGN CHUK HPRT1 IKBKB IKBKG RNF31
6 integument MP:0010771 10.01 BGN CHUK EDAR HPRT1 IKBKB IKBKG
7 craniofacial MP:0005382 10 BGN CHUK EDAR HPRT1 SHARPIN TRAF6
8 hematopoietic system MP:0005397 10 CHUK HPRT1 IKBKB IKBKG RNF31 SHARPIN
9 endocrine/exocrine gland MP:0005379 9.97 CHUK EDAR HPRT1 IKBKB IKBKG TRAF6
10 liver/biliary system MP:0005370 9.87 CHUK HPRT1 IKBKB IKBKG RBCK1 SHARPIN
11 mortality/aging MP:0010768 9.86 BGN CHUK EDAR HPRT1 IKBKB IKBKG
12 limbs/digits/tail MP:0005371 9.77 BGN CHUK EDAR IKBKB TRAF6
13 reproductive system MP:0005389 9.5 BGN CHUK EDAR HPRT1 IKBKG SHARPIN
14 pigmentation MP:0001186 9.46 EDAR HPRT1 IKBKG TRAF6
15 skeleton MP:0005390 9.1 BGN CHUK EDAR HPRT1 SHARPIN TRAF6

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 29 IKBKG

Anatomical Context for Incontinentia Pigmenti

MalaCards organs/tissues related to Incontinentia Pigmenti:

41
Skin, Eye, Brain, Heart, Cortex, T Cells, Breast

Publications for Incontinentia Pigmenti

Articles related to Incontinentia Pigmenti:

(show top 50) (show all 672)
# Title Authors Year
1
Intravitreal injection of ranibizumab in severe retinopathy of incontinentia pigmenti. ( 29630932 )
2018
2
Incontinentia pigmenti in a Japanese female infant with a novel frame-shift mutation in the IKBKG gene. ( 29923632 )
2018
3
Cardiopulmonary anomalies in incontinentia pigmenti patients. ( 29197078 )
2018
4
Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus. ( 29171168 )
2018
5
Optical Coherence Tomography Angiography and Ultra-Widefield Optical Coherence Tomography in a Child With Incontinentia Pigmenti. ( 29664986 )
2018
6
Comments on "NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti". ( 29921468 )
2018
7
Multimodal Retinal Imaging in Incontinentia Pigmenti Including Optical Coherence Tomography Angiography: Findings From an Older Cohort With Mild Phenotype. ( 29566114 )
2018
8
A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy. ( 29520766 )
2018
9
Whorled Scarring Alopecia - The Only Adult Marker of Incontinentia Pigmenti. ( 29440854 )
2018
10
Successful Hair Transplantation for Scarring Alopecia Associated With Incontinentia Pigmenti. ( 29985864 )
2018
11
A case of basal cell carcinoma in a young patient with Incontinentia Pigmenti. ( 30295444 )
2018
12
Unilateral Cerebral Atrophy: Severe Neuroimaging Feature of Incontinentia Pigmenti without Acute Encephalopathic State. ( 30090155 )
2018
13
Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection. ( 30009071 )
2018
14
A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti. ( 30036148 )
2018
15
Incontinentia pigmenti-associated ocular anomalies of paediatric incontinentia pigmenti patients in China. ( 30073775 )
2018
16
Intrafamilial clinical variability in four families with incontinentia pigmenti. ( 30151858 )
2018
17
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. ( 30157809 )
2018
18
A case of subungual tumors of incontinentia pigmenti: A rare manifestation and association with bipolar disease. ( 30167449 )
2018
19
A case of incontinentia pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia. ( 30328117 )
2018
20
Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait. ( 30418511 )
2018
21
A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus. ( 29344471 )
2017
22
Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome. ( 28937389 )
2017
23
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. ( 28702714 )
2017
24
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti. ( 28711407 )
2017
25
ASSESSMENT OF THE RETINAL STRUCTURE IN CHILDREN WITH INCONTINENTIA PIGMENTI. ( 28085775 )
2017
26
Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield. ( 29077987 )
2017
27
Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. ( 28794079 )
2017
28
Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti? ( 28394857 )
2017
29
Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). ( 28729805 )
2017
30
Incontinentia pigmenti in a child with suspected retinoblastoma. ( 28932485 )
2017
31
Incontinentia Pigmenti: AA Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols. ( 28870493 )
2017
32
A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage. ( 28643725 )
2017
33
Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years. ( 28791733 )
2017
34
Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease. ( 28785344 )
2017
35
Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report. ( 28533687 )
2017
36
Incontinentia pigmenti with secondary Raynaud's phenomenon: A case report and review of the literature. ( 29260049 )
2017
37
Keratoacanthoma-Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate. ( 28414858 )
2017
38
Gene therapy decreases seizures in a model of Incontinentia pigmenti. ( 28628231 )
2017
39
The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti. ( 27297972 )
2016
40
Incontinentia Pigmenti presenting as a newborn eruption: two case presentations. ( 27617597 )
2016
41
Incontinentia Pigmenti Coxsackium. ( 27396921 )
2016
42
Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti. ( 27586688 )
2016
43
Distal Digital Keratoacanthoma in Patients With Incontinentia Pigmenti. ( 26614487 )
2016
44
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. ( 27602400 )
2016
45
SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI BY INTRAVITREAL RANIBIZUMAB AS ADJUNCT THERAPY IN A 4-YEAR-OLD CHILD. ( 27472514 )
2016
46
Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti. ( 26706482 )
2016
47
Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report. ( 27412134 )
2016
48
Novel Macular Findings on Optical Coherence Tomography in Incontinentia Pigmenti. ( 27832283 )
2016
49
Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti. ( 27173419 )
2016
50
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

Variations for Incontinentia Pigmenti

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

75
# 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 rs119898441
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.1219A> G (p.Met407Val) single nucleotide variant Pathogenic rs137853322 GRCh38 Chromosome X, 154564420: 154564420
5 IKBKG NM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp) single nucleotide variant Pathogenic rs137853321 GRCh37 Chromosome X, 153792675: 153792675
6 IKBKG NM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp) single nucleotide variant Pathogenic rs137853321 GRCh38 Chromosome X, 154564460: 154564460
7 IKBKG IKBKG, 10-BP INS, NT127 insertion Pathogenic
8 IKBKG NM_003639.4(IKBKG): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs137853323 GRCh37 Chromosome X, 153780401: 153780401
9 IKBKG NM_003639.4(IKBKG): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs137853323 GRCh38 Chromosome X, 154552186: 154552186

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:

37
# 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 top 50) (show all 89)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 CHUK IKBKB IKBKG RBCK1 TRAF6
2
Show member pathways
13.26 CHUK EDAR IKBKB IKBKG TRAF6
3
Show member pathways
12.95 CHUK IKBKB IKBKG TRAF6
4
Show member pathways
12.86 CHUK EDAR IKBKB IKBKG TRAF6
5
Show member pathways
12.85 CHUK IKBKB IKBKG TRAF6
6 12.76 CHUK IKBKB IKBKG TRAF6
7
Show member pathways
12.76 CHUK IKBKB IKBKG RBCK1 RNF31 SHARPIN
8
Show member pathways
12.73 CHUK IKBKB IKBKG TRAF6
9
Show member pathways
12.72 CHUK IKBKB IKBKG TRAF6
10 12.7 CHUK IKBKB IKBKG TRAF6
11
Show member pathways
12.69 CHUK IKBKB IKBKG TRAF6
12
Show member pathways
12.64 CHUK IKBKB IKBKG TRAF6
13
Show member pathways
12.62 CHUK IKBKB IKBKG TRAF6
14
Show member pathways
12.61 CHUK IKBKB IKBKG TRAF6
15
Show member pathways
12.55 CHUK EDAR IKBKB IKBKG TRAF6
16 12.47 CHUK IKBKB IKBKG SHARPIN TRAF6
17
Show member pathways
12.41 CHUK IKBKB IKBKG TRAF6
18
Show member pathways
12.4 CHUK IKBKB IKBKG TRAF6
19
Show member pathways
12.4 CHUK IKBKB IKBKG TRAF6
20
Show member pathways
12.39 CHUK IKBKB IKBKG
21
Show member pathways
12.39 CHUK IKBKB IKBKG
22
Show member pathways
12.39 CHUK IKBKB IKBKG TRAF6
23
Show member pathways
12.39 CHUK IKBKB IKBKG TRAF6
24
Show member pathways
12.38 CHUK IKBKB IKBKG
25
Show member pathways
12.37 CHUK IKBKB IKBKG TRAF6
26
Show member pathways
12.35 CHUK IKBKB IKBKG
27 12.34 CHUK IKBKB IKBKG
28
Show member pathways
12.34 CHUK IKBKB IKBKG TRAF6
29
Show member pathways
12.32 CHUK IKBKB IKBKG
30
Show member pathways
12.32 CHUK IKBKB IKBKG TRAF6
31
Show member pathways
12.31 CHUK IKBKB IKBKG
32
Show member pathways
12.29 CHUK IKBKB IKBKG TRAF6
33
Show member pathways
12.27 CHUK IKBKB IKBKG TRAF6
34
Show member pathways
12.26 CHUK IKBKB IKBKG
35
Show member pathways
12.26 CHUK IKBKB IKBKG TRAF6
36 12.25 CHUK IKBKB IKBKG TRAF6
37
Show member pathways
12.23 CHUK IKBKB IKBKG
38
Show member pathways
12.22 CHUK IKBKB IKBKG TRAF6
39
Show member pathways
12.22 CHUK IKBKB IKBKG TRAF6
40
Show member pathways
12.21 CHUK IKBKB IKBKG TRAF6
41
Show member pathways
12.17 CHUK IKBKB IKBKG TRAF6
42
Show member pathways
12.15 CHUK IKBKB IKBKG TRAF6
43
Show member pathways
12.15 CHUK IKBKB IKBKG
44
Show member pathways
12.15 RBCK1 RNF31 SHARPIN
45
Show member pathways
12.14 CHUK IKBKB TRAF6
46
Show member pathways
12.14 CHUK IKBKB IKBKG TRAF6
47
Show member pathways
12.11 CHUK IKBKB IKBKG
48
Show member pathways
12.11 CHUK IKBKB IKBKG
49
Show member pathways
12.09 CHUK IKBKB IKBKG TRAF6
50
Show member pathways
12.07 CHUK IKBKB 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 cytosol GO:0005829 9.92 CHUK HPRT1 IKBKB IKBKG RBCK1 RNF31
2 cytoplasmic side of plasma membrane GO:0009898 9.46 CHUK IKBKB RNF31 TRAF6
3 IkappaB kinase complex GO:0008385 9.43 CHUK IKBKB IKBKG
4 LUBAC complex GO:0071797 9.13 RBCK1 RNF31 SHARPIN
5 CD40 receptor complex GO:0035631 8.92 CHUK IKBKB RNF31 TRAF6

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 Fc-epsilon receptor signaling pathway GO:0038095 9.8 CHUK IKBKB IKBKG TRAF6
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.8 CHUK IKBKB IKBKG RBCK1 RNF31 TRAF6
3 protein polyubiquitination GO:0000209 9.75 RBCK1 RNF31 TRAF6
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.73 CHUK IKBKB IKBKG TRAF6
5 T cell receptor signaling pathway GO:0050852 9.73 CHUK IKBKB IKBKG RBCK1 RNF31 TRAF6
6 response to virus GO:0009615 9.72 CHUK IKBKB IKBKG
7 tumor necrosis factor-mediated signaling pathway GO:0033209 9.71 CHUK EDAR IKBKB
8 interleukin-1-mediated signaling pathway GO:0070498 9.71 CHUK IKBKB IKBKG TRAF6
9 stress-activated MAPK cascade GO:0051403 9.7 CHUK IKBKB IKBKG
10 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.69 CHUK IKBKB IKBKG
11 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.65 CHUK IKBKB IKBKG
12 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.63 CHUK IKBKB IKBKG
13 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 CHUK IKBKB IKBKG RBCK1 RNF31 SHARPIN
14 JNK cascade GO:0007254 9.58 IKBKG TRAF6
15 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.57 IKBKG TRAF6
16 I-kappaB phosphorylation GO:0007252 9.56 CHUK IKBKB
17 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.56 CHUK EDAR IKBKB IKBKG RBCK1 RNF31
18 protein linear polyubiquitination GO:0097039 9.54 RBCK1 RNF31 SHARPIN
19 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.17 CHUK IKBKB IKBKG RBCK1 RNF31 SHARPIN

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.73 CHUK HPRT1 IKBKB RBCK1 RNF31 TRAF6
2 identical protein binding GO:0042802 9.72 HPRT1 IKBKB IKBKG SHARPIN TRAF6
3 ubiquitin protein ligase binding GO:0031625 9.54 IKBKG RNF31 TRAF6
4 ubiquitin-protein transferase activity GO:0004842 9.46 RBCK1 RNF31 SHARPIN TRAF6
5 ubiquitin binding GO:0043130 9.13 RBCK1 RNF31 SHARPIN
6 IkappaB kinase activity GO:0008384 8.62 CHUK IKBKB

Sources for Incontinentia Pigmenti

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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