IP
MCID: INC021
MIFTS: 63

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 56 12 74 24 52 25 53 58 73 36 54 43 32
Bloch-Sulzberger Syndrome 56 12 24 52 25 53 58 73 15
Ip 56 52 25 73
Incontinentia Pigmenti, Familial Male-Lethal Type 56 52 71
Incontinentia Pigmenti Syndrome 12 29 6
Bloch-Siemens Syndrome 25 58
Incontinentia Pigmenti, Type Ii, Formerly; Ip2, Formerly 56
Familial Incontinentia Pigmenti Male-Lethal Type 73
Incontinentia Pigmenti, Type Ii, Formerly 56
Familial Incontinentia Pigmenti Type Ii 73
Incontinentia Pigmenti Achromians 71
Bloch-Siemens-Sulzberger Syndrome 25
Bloch Sulzberger Syndrome 71
Ip2, Formerly 56
Ip2 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
x-linked dominant


HPO:

31
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Incontinentia Pigmenti

NINDS : 53 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 immunodeficiency 1 and anodontia, and has symptoms including seizures and muscle spasticity. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory 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 skin rash and abnormal blistering of the skin

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. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs. Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.

NIH Rare Diseases : 52 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 : 56 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)

KEGG : 36 Incontinentia pigmenti is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular, verrucous, hyperpigmented, and atrophic. Other tissues of ectodermal origin are also affected, showing hair abnormalities, dental anomalies, and ophthalmologic and neurologic alterations. Familial incontinentia pigmenti is caused by mutations in the NEMO gene.

UniProtKB/Swiss-Prot : 73 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 : 74 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 614)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia and immunodeficiency 1 31.3 IKBKG G6PD
2 anodontia 30.9 IKBKG EDAR EDA
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.6 IKBKG EDAR EDA CHUK
4 anhidrosis 30.5 IKBKG EDAR EDA
5 osteopetrosis 30.1 TRAF6 NFKB2 IKBKG
6 ectodermal dysplasia 29.9 TRAF6 NFKB2 IKBKG IKBKB G6PD EDAR
7 tooth agenesis 29.2 TRAF6 SHARPIN RNF31 RBCK1 IKBKG IKBKB
8 hypomelanosis of ito 12.7
9 congenital disorder of glycosylation, type ip 12.6
10 ichthyosis prematurity syndrome 12.1
11 nevoid hypermelanosis, linear and whorled 11.9
12 lymphoma, hodgkin, classic 11.6
13 reticulate acropigmentation of kitamura 11.5
14 erythrokeratoderma ''en cocardes'' 11.0
15 retinal detachment 10.9
16 dowling-degos disease 1 10.8
17 exanthem 10.7
18 alopecia 10.7
19 retinal vascular disease 10.7
20 rare genetic skin disease 10.7
21 hypereosinophilic syndrome 10.6
22 visual epilepsy 10.6
23 encephalopathy 10.6
24 seizure disorder 10.6
25 strabismus 10.6
26 mechanical strabismus 10.6
27 teratoma 10.6
28 yemenite deaf-blind hypopigmentation syndrome 10.5
29 pulmonary hypertension 10.5
30 microcephaly 10.5
31 herpes simplex 10.5
32 keratoacanthoma 10.5
33 47,xyy 10.5
34 retinoblastoma 10.4
35 microphthalmia 10.4
36 familial retinoblastoma 10.4
37 immune deficiency disease 10.4
38 3-methylglutaconic aciduria, type iii 10.4
39 alacrima, achalasia, and mental retardation syndrome 10.4
40 pathologic nystagmus 10.4
41 spasticity 10.4
42 hypohidrotic ectodermal dysplasia with immunodeficiency 10.4
43 immunodeficiency without anhidrotic ectodermal dysplasia 10.4 IKBKG G6PD
44 exudative vitreoretinopathy 1 10.4
45 pulmonary hypertension, primary, 1 10.4
46 dermatitis, atopic 10.4
47 west syndrome 10.4
48 hypogonadotropic hypogonadism 10.4
49 keratosis 10.4
50 dermatitis 10.4

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



Diseases related to Incontinentia Pigmenti

Symptoms & Phenotypes for Incontinentia Pigmenti

Human phenotypes related to Incontinentia Pigmenti:

58 31 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
2 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
3 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
4 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
5 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
6 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
7 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
8 hypoplastic fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001804
9 verrucae 58 31 hallmark (90%) Very frequent (99-80%) HP:0200043
10 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
13 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
14 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
15 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
16 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
17 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
18 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
19 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
20 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
21 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
22 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
23 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
24 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
25 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
26 asymmetric growth 58 31 frequent (33%) Frequent (79-30%) HP:0100555
27 supernumerary ribs 58 31 frequent (33%) Frequent (79-30%) HP:0005815
28 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
29 deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0004097
30 eosinophilia 58 31 frequent (33%) Frequent (79-30%) HP:0001880
31 supernumerary nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002558
32 abnormal hand morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005922
33 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
34 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
35 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
36 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
37 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
38 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
39 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
40 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
41 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
42 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
43 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
44 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
45 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
46 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
47 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
48 cerebral ischemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002637
49 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
50 keratitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000491

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
optic atrophy
strabismus
retinal detachment
uveitis
more
Head And Neck Head:
microcephaly

Skeletal Spine:
kyphoscoliosis
hemivertebrae

Chest Breasts:
supernumerary nipple
breast aplasia
breast hypoplasia
nipple hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
extra ribs

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

Neurologic Central Nervous System:
seizures
spasticity
mental retardation

Growth Height:
short stature

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

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

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

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 8.8 CHUK IKBKB SHARPIN

MGI Mouse Phenotypes related to Incontinentia Pigmenti:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 BGN CHUK EDAR G6PD IKBKB IKBKG
2 hematopoietic system MP:0005397 10.03 CCL11 CHUK G6PD IKBKB IKBKG NFKB2
3 immune system MP:0005387 9.93 BGN CCL11 CHUK IKBKB IKBKG NFKB2
4 digestive/alimentary MP:0005381 9.92 CHUK EDAR IKBKB IKBKG NFKB2 RIPK1
5 integument MP:0010771 9.61 BGN CHUK EDAR IKBKB IKBKG NFKB2
6 liver/biliary system MP:0005370 9.23 CHUK IKBKB IKBKG NFKB2 RBCK1 RIPK1

Drugs & Therapeutics for Incontinentia Pigmenti

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 In Vitro Observation of Chromosome Recombination and Treatment in Vitro 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:

40
Skin, Eye, Brain, Heart, Cortex, Breast, T Cells

Publications for Incontinentia Pigmenti

Articles related to Incontinentia Pigmenti:

(show top 50) (show all 1120)
# Title Authors PMID Year
1
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. 61 56 6 24 54
10839543 2000
2
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. 56 61 54 24
11590134 2001
3
Incontinentia pigmenti diagnostic criteria update. 61 24 56
23802866 2014
4
Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. 61 24 56
9738871 1998
5
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 61 54 56
16228229 2005
6
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. 61 6 54
11709543 2001
7
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 6 24
11242109 2001
8
Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice. 24 56
10766741 2000
9
Incontinentia pigmenti in a newborn male infant with DNA confirmation. 56 54 61
9450877 1998
10
Intrafamilial clinical variability in four families with incontinentia pigmenti. 61 56
30151858 2018
11
Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti. 56 61
26043102 2015
12
Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature. 56 61
20829317 2011
13
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. 61 54 24
18350553 2008
14
Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism. 61 56
12588226 2003
15
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). 61 54 24
11179023 2001
16
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). 61 24 54
11047757 2000
17
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2. 61 56
10982489 2000
18
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. 56 61
10756353 2000
19
Mutation analysis of the DKC1 gene in incontinentia pigmenti. 61 56
10636732 1999
20
Incontinentia Pigmenti 61 6
20301645 1999
21
Second trimester miscarriage of a male fetus with incontinentia pigmenti. 56 61
9843060 1998
22
Linkage analysis in 16 families with incontinentia pigmenti. 61 56
9272741 1997
23
A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X;autosome translocation. 56 61
9066891 1997
24
Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. 61 56
8923006 1996
25
Case report: unusually high rates of aneuploid embryos in a 28-year old woman with incontinentia pigmenti. 56 61
8565631 1996
26
Gonadal mosaicism for incontinentia pigmenti in a healthy male. 56 61
8592334 1995
27
Recurrent inflammation in incontinentia pigmenti of a seven-year-old child. 56 61
8520067 1995
28
Incontinentia pigmenti nomenclature. 56 61
8023849 1994
29
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. 56 61
8004094 1994
30
Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males. 56 61
8160732 1994
31
Incontinentia pigmenti (Bloch-Sulzberger syndrome). 56 61
8423608 1993
32
Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints. 56 61
1985463 1991
33
Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers. 61 56
1847690 1991
34
Incontinentia pigmenti: XXY male with a family history. 61 56
2208764 1990
35
The gene for incontinentia pigmenti is assigned to Xq28. 56 61
2714798 1989
36
Selection against lethal alleles in females heterozygous for incontinentia pigmenti. 56 61
2562819 1989
37
Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11. 56 61
3192215 1988
38
The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization. 56 61
2900707 1988
39
Chromosomal instability in incontinentia pigmenti: study of four families. 61 56
3281567 1988
40
Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family. 56 61
3115288 1987
41
Incontinentia pigmenti in a boy with Klinefelter's syndrome. 61 56
3612722 1987
42
X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. 56 61
4064360 1985
43
Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? 61 56
3876069 1985
44
Two cases of X/autosome translocation in females with incontinentia pigmenti. 61 56
4065895 1985
45
Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma. 56 61
3879432 1985
46
Incontinentia pigmenti in a father and his daughter. 61 56
6711617 1984
47
Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes. 56 61
6689930 1984
48
The half chromatid mutation model and bidirectional mutation in incontinentia pigmenti. 56 61
6627720 1983
49
X-linked dominant inherited diseases with lethality in hemizygous males. 56 61
6873941 1983
50
Studies of a family with incontinentia pigmenti variably expressed in both sexes. 61 56
7154043 1982

Variations for Incontinentia Pigmenti

ClinVar genetic disease variations for Incontinentia Pigmenti:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKBKG IKBKG, 2-BP DEL, 1182TTdeletion Pathogenic 916678
2 IKBKG IKBKG, IVS9DS, G-A, +1SNV Pathogenic 916682
3 IKBKG IKBKG, EX4-10DELdeletion Pathogenic 11447
4 IKBKG NM_003639.4(IKBKG):c.1110dup (p.Ala371fs)duplication Pathogenic 11448 rs1569556615 X:153792222-153792223 X:154564007-154564008
5 IKBKG NM_003639.4(IKBKG):c.1219A>G (p.Met407Val)SNV Pathogenic 11449 rs137853322 X:153792635-153792635 X:154564420-154564420
6 IKBKG NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp)SNV Pathogenic 11450 rs137853321 X:153792675-153792675 X:154564460-154564460
7 IKBKG NM_003639.4(IKBKG):c.120_129dup (p.Glu44fs)duplication Pathogenic 11451 X:153780334-153780335 X:154552119-154552120
8 IKBKG NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter)SNV Pathogenic 11452 rs137853323 X:153780401-153780401 X:154552186-154552186
9 IKBKG NM_003639.4(IKBKG):c.1217A>T (p.Asp406Val)SNV Pathogenic 11457 rs137853327 X:153792633-153792633 X:154564418-154564418
10 IKBKG NM_003639.4(IKBKG):c.1166_1178dup (p.Asp394fs)duplication Pathogenic 11458 X:153792579-153792580 X:154564364-154564365
11 IKBKG NM_003639.4(IKBKG):c.1167dup (p.Glu390fs)duplication Pathogenic 372387 rs782178147 X:153792576-153792577 X:154564361-154564362
12 IKBKG IKBKG, IVS4DS, C-T, +866SNV Pathogenic 619016
13 IKBKG NM_001360016.2(G6PD):c.120+3646C>TSNV Uncertain significance 625962 rs782367664 X:153770605-153770605 X:154542390-154542390
14 IKBKG NM_003639.4(IKBKG):c.1117+5G>CSNV Uncertain significance 449462 rs1557236796 X:153792240-153792240 X:154564025-154564025

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

73
# 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 rs105752029
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

Copy number variations for Incontinentia Pigmenti from CNVD:

7 (show top 50) (show all 103)
# CNVD ID Chromosome 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 top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.08 TRAF6 TRAF2 RIPK1 RBCK1 NFKB2 IKBKG
2
Show member pathways
13.45 TRAF6 TRAF2 RIPK1 IKBKG IKBKB CHUK
3
Show member pathways
13.43 TRAF6 TRAF2 NFKB2 IKBKG IKBKB EDAR
4
Show member pathways
13.14 TRAF6 TRAF2 RIPK1 NFKB2 IKBKG IKBKB
5
Show member pathways
13.09 TRAF6 TRAF2 RNF31 RIPK1 RBCK1 NFKB2
6
Show member pathways
13 TRAF6 TRAF2 RIPK1 IKBKG IKBKB CHUK
7 12.91 TRAF6 TRAF2 NFKB2 IKBKG IKBKB CHUK
8
Show member pathways
12.91 TRAF6 TRAF2 RIPK1 NFKB2 IKBKG IKBKB
9 12.84 TRAF6 TRAF2 NFKB2 IKBKG IKBKB CHUK
10 12.83 TRAF6 TRAF2 IKBKG IKBKB CHUK
11
Show member pathways
12.8 TRAF6 RIPK1 NFKB2 IKBKG IKBKB CHUK
12
Show member pathways
12.79 TRAF6 TRAF2 RIPK1 IKBKG IKBKB CHUK
13
Show member pathways
12.79 TRAF6 TRAF2 RIPK1 NFKB2 IKBKG IKBKB
14
Show member pathways
12.75 TRAF6 TRAF2 RIPK1 IKBKG IKBKB CHUK
15
Show member pathways
12.66 RIPK1 NFKB2 IKBKG IKBKB CHUK
16
Show member pathways
12.63 TRAF6 TRAF2 RIPK1 NFKB2 IKBKG IKBKB
17
Show member pathways
12.63 TRAF6 TRAF2 RIPK1 IKBKG IKBKB EDAR
18
Show member pathways
12.61 TRAF6 IKBKG IKBKB CHUK
19
Show member pathways
12.61 TRAF6 TRAF2 RIPK1 NFKB2 IKBKG IKBKB
20
Show member pathways
12.59 NFKB2 IKBKG IKBKB CHUK
21 12.59 TRAF6 TRAF2 SHARPIN RIPK1 NFKB2 IKBKG
22
Show member pathways
12.56 NFKB2 IKBKG IKBKB CHUK
23
Show member pathways
12.53 TRAF6 TRAF2 NFKB2 IKBKG IKBKB CHUK
24
Show member pathways
12.51 TRAF6 NFKB2 IKBKG IKBKB CHUK
25
Show member pathways
12.49 TRAF6 RIPK1 IKBKG IKBKB CHUK
26
Show member pathways
12.48 NFKB2 IKBKG IKBKB CHUK
27
Show member pathways
12.44 TRAF6 IKBKG IKBKB CHUK
28
Show member pathways
12.44 NFKB2 IKBKG IKBKB CHUK
29
Show member pathways
12.43 NFKB2 IKBKB CHUK CCL11
30 12.41 TRAF6 TRAF2 RIPK1 IKBKG IKBKB CHUK
31
Show member pathways
12.39 TRAF6 IKBKG IKBKB CHUK
32
Show member pathways
12.39 TRAF2 RIPK1 IKBKG IKBKB CHUK
33
Show member pathways
12.39 TRAF6 TRAF2 NFKB2 IKBKG IKBKB CHUK
34 12.38 NFKB2 IKBKG IKBKB CHUK
35
Show member pathways
12.38 NFKB2 IKBKG IKBKB CHUK
36 12.37 TRAF6 TRAF2 RIPK1 IKBKG IKBKB CHUK
37
Show member pathways
12.35 TRAF6 IKBKG IKBKB CHUK
38
Show member pathways
12.35 TRAF6 IKBKG IKBKB CHUK
39
Show member pathways
12.35 TRAF6 RIPK1 NFKB2 IKBKG IKBKB CHUK
40
Show member pathways
12.31 TRAF6 IKBKG IKBKB CHUK
41 12.3 TRAF6 TRAF2 RIPK1 IKBKB
42
Show member pathways
12.3 TRAF2 SHARPIN RNF31 RIPK1 RBCK1 IKBKG
43
Show member pathways
12.29 TRAF2 SHARPIN RNF31 RIPK1 RBCK1
44
Show member pathways
12.27 NFKB2 IKBKG IKBKB CHUK
45
Show member pathways
12.26 TRAF6 NFKB2 IKBKB CHUK
46
Show member pathways
12.25 TRAF6 NFKB2 IKBKG IKBKB CHUK CCL11
47
Show member pathways
12.24 TRAF6 TRAF2 IKBKG IKBKB CHUK
48 12.19 TRAF6 TRAF2 SHARPIN RNF31 RIPK1 RBCK1
49 12.18 TRAF6 IKBKG IKBKB CHUK
50 12.12 TRAF6 TRAF2 NFKB2 IKBKG IKBKB CHUK

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 ubiquitin ligase complex GO:0000151 9.62 TRAF2 SHARPIN RBCK1 IKBKG
2 IkappaB kinase complex GO:0008385 9.43 IKBKG IKBKB CHUK
3 cytoplasmic side of plasma membrane GO:0009898 9.43 TRAF6 TRAF2 RNF31 IKBKB G6PD CHUK
4 plasma membrane receptor complex GO:0098802 9.37 TRAF6 TRAF2
5 LUBAC complex GO:0071797 9.33 SHARPIN RNF31 RBCK1
6 CD40 receptor complex GO:0035631 9.02 TRAF6 TRAF2 RNF31 IKBKB CHUK

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.04 TRAF6 IKBKG EDA CHUK CCL11
2 inflammatory response GO:0006954 10.01 NFKB2 IKBKG IKBKB CHUK CCL11
3 protein deubiquitination GO:0016579 9.95 TRAF6 TRAF2 RIPK1 IKBKG
4 Fc-epsilon receptor signaling pathway GO:0038095 9.91 TRAF6 IKBKG IKBKB CHUK
5 T cell receptor signaling pathway GO:0050852 9.91 TRAF6 RNF31 RBCK1 IKBKG IKBKB CHUK
6 cellular response to tumor necrosis factor GO:0071356 9.88 RIPK1 IKBKB CHUK CCL11
7 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.87 TRAF6 IKBKG IKBKB CHUK
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.87 TRAF6 TRAF2 RIPK1 IKBKB EDAR EDA
9 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.86 TRAF2 SHARPIN RNF31 RIPK1 RBCK1 IKBKG
10 response to virus GO:0009615 9.85 IKBKG IKBKB CHUK CCL11
11 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.85 TRAF6 TRAF2 RNF31 RIPK1 RBCK1 NFKB2
12 interleukin-1-mediated signaling pathway GO:0070498 9.81 TRAF6 IKBKG IKBKB CHUK
13 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.8 IKBKG IKBKB CHUK
14 positive regulation of JNK cascade GO:0046330 9.8 TRAF6 TRAF2 RIPK1 EDAR
15 odontogenesis of dentin-containing tooth GO:0042475 9.79 TRAF6 EDAR EDA
16 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.78 TRAF6 RBCK1 EDAR EDA
17 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.76 RIPK1 IKBKG IKBKB CHUK
18 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.73 TRAF6 TRAF2 IKBKG
19 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.71 TRAF2 RIPK1 RBCK1
20 stress-activated MAPK cascade GO:0051403 9.7 IKBKG IKBKB CHUK
21 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.67 RIPK1 IKBKG IKBKB CHUK
22 activation of NF-kappaB-inducing kinase activity GO:0007250 9.66 TRAF6 TRAF2
23 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.66 TRAF2 RIPK1
24 positive regulation of interleukin-2 production GO:0032743 9.65 TRAF6 TRAF2
25 I-kappaB phosphorylation GO:0007252 9.65 IKBKB CHUK
26 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.65 TRAF6 TRAF2 SHARPIN RNF31 RIPK1 RBCK1
27 positive regulation of tumor necrosis factor-mediated signaling pathway GO:1903265 9.64 TRAF2 RIPK1
28 positive regulation of T cell cytokine production GO:0002726 9.63 TRAF6 TRAF2
29 death-inducing signaling complex assembly GO:0071550 9.62 TRAF2 RIPK1
30 programmed necrotic cell death GO:0097300 9.6 TRAF2 RIPK1
31 salivary gland cavitation GO:0060662 9.59 EDAR EDA
32 regulation of immunoglobulin secretion GO:0051023 9.58 TRAF6 TRAF2
33 protein linear polyubiquitination GO:0097039 9.58 SHARPIN RNF31 RBCK1
34 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.36 TRAF6 TRAF2 SHARPIN RNF31 RIPK1 RBCK1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.91 RIPK1 IKBKG IKBKB G6PD CHUK
2 protein-containing complex binding GO:0044877 9.8 TRAF2 SHARPIN RIPK1 IKBKG CHUK
3 ubiquitin protein ligase binding GO:0031625 9.72 TRAF6 TRAF2 RNF31 RIPK1 IKBKG
4 ubiquitin binding GO:0043130 9.61 SHARPIN RNF31 RBCK1
5 identical protein binding GO:0042802 9.61 TRAF6 TRAF2 SHARPIN RNF31 RIPK1 RBCK1
6 ubiquitin-protein transferase activity GO:0004842 9.55 TRAF6 TRAF2 SHARPIN RNF31 RBCK1
7 mitogen-activated protein kinase kinase kinase binding GO:0031435 9.49 TRAF6 TRAF2
8 death receptor binding GO:0005123 9.48 RIPK1 EDA
9 thioesterase binding GO:0031996 9.46 TRAF6 TRAF2
10 tumor necrosis factor receptor binding GO:0005164 9.43 TRAF6 TRAF2 EDA
11 IkappaB kinase activity GO:0008384 9.37 IKBKB CHUK
12 transferrin receptor binding GO:1990459 8.8 IKBKG IKBKB CHUK

Sources for Incontinentia Pigmenti

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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