MCID: INC021
MIFTS: 48

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 54 12 72 23 50 24 25 51 56 71 52 42
Bloch-Sulzberger Syndrome 12 23 50 24 25 51 56 71 14
Ip 50 24 25 71
Incontinentia Pigmenti, Familial Male-Lethal Type 50 69
Incontinentia Pigmenti Syndrome 12 29
Bloch-Siemens Syndrome 25 56
Familial Incontinentia Pigmenti Male-Lethal Type 71
Familial Incontinentia Pigmenti Type Ii 71
Incontinentia Pigmenti Achromians 69
Bloch-Siemens-Sulzberger Syndrome 25
Bloch Sulzberger Syndrome 69
Ip2 71

Characteristics:

Orphanet epidemiological data:

56
incontinentia pigmenti
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
x-linked dominant


HPO:

32
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 : 51 Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, impaired cognitive development, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.

MalaCards based summary : Incontinentia Pigmenti, also known as bloch-sulzberger syndrome, is related to hypomelanosis of ito and congenital disorder of glycosylation, type ip, and has symptoms including short stature, scoliosis and visual impairment. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma). Affiliated tissues include skin, eye and heart.

NIH Rare Diseases : 50 incontinentia pigmenti (ip) is a genetic condition that affects the skin and other body systems. skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. the growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. most people with ip have normal intelligence, but some have developmental delay, intellectual disability, seizures, and/or other neurological problems. ip is caused by mutations in the ikbkg gene and is inherited in an x-linked dominant manner. last updated: 7/29/2014

UniProtKB/Swiss-Prot : 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.

Genetics Home Reference : 25 Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.

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

Wikipedia : 72 Incontinentia pigmenti (IP, also known as \"Bloch–Siemens syndrome\", \"Bloch–Sulzberger disease\",... more...

GeneReviews: NBK1472

Related Diseases for Incontinentia Pigmenti

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 12.2
2 congenital disorder of glycosylation, type ip 12.0
3 ichthyosis prematurity syndrome 11.6
4 reticulate acropigmentation of kitamura 11.1
5 nevoid hypermelanosis, linear and whorled 11.1
6 hodgkin lymphoma 10.8
7 ectodermal dysplasia 10.3
8 retinitis 10.2
9 amyloidosis 10.1
10 keratoacanthoma 10.1
11 cerebritis 10.1
12 macular amyloidosis 10.1
13 neuronitis 10.0
14 encephalocele 10.0
15 neonatal herpes 10.0
16 pulmonary hypertension 10.0
17 squamous cell carcinoma 10.0
18 herpes simplex 10.0
19 endotheliitis 9.9
20 dermatitis 9.8
21 retinoblastoma 9.8
22 leukemia 9.8
23 dyskeratosis congenita 9.8
24 encephalitis 9.8
25 lymphedema 9.8
26 osteopetrosis 9.8
27 atopic dermatitis 9.8
28 hansen's disease 9.8
29 birt-hogg-dube syndrome 9.8
30 purpura 9.8
31 hemihypertrophy 9.8
32 norrie disease 9.8
33 primary cutaneous amyloidosis 9.8
34 hydrops fetalis 9.8
35 fabry disease 9.8
36 anhidrosis 9.8
37 leukomalacia 9.8
38 retinal vasculitis 9.8
39 pyoderma 9.8
40 urticaria pigmentosa 9.8
41 retinal detachment 9.8
42 iris hypoplasia 9.8
43 anodontia 9.8
44 bronchitis 9.8
45 cerebral atrophy 9.8
46 acute disseminated encephalomyelitis 9.8
47 encephalopathy 9.8
48 alopecia 9.8
49 urticaria 9.8
50 asthma 9.8

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:

54

Growth- Height:
short stature

Head And Neck- Eyes:
optic atrophy
strabismus
retinal detachment
cataract
foveal hypoplasia
more
Skeletal- Spine:
kyphoscoliosis
hemivertebrae

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

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:
mental retardation
spasticity
seizures

Head And Neck- Head:
microcephaly

Chest- Breasts:
breast hypoplasia
nipple hypoplasia
breast aplasia
supernumerary nipple

Skin Nails & Hair- Nails:
nail dystrophy
nail ridging
nail pitting
onychogryposis
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

Human phenotypes related to Incontinentia Pigmenti:

56 32 (show top 50) (show all 86)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
4 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
5 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
6 retinal detachment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000541
7 spasticity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001257
8 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
9 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 alopecia 56 32 frequent (33%) Frequent (79-30%) HP:0001596
11 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
12 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
13 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
14 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
15 encephalitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002383
16 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
17 hyperkeratosis 56 32 frequent (33%) Frequent (79-30%) HP:0000962
18 spina bifida occulta 56 32 occasional (7.5%) Occasional (29-5%) HP:0003298
19 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
20 eosinophilia 56 32 frequent (33%) Frequent (79-30%) HP:0001880
21 hypodontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000668
22 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
23 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
24 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
25 blue sclerae 56 32 occasional (7.5%) Occasional (29-5%) HP:0000592
26 supernumerary ribs 56 32 frequent (33%) Frequent (79-30%) HP:0005815
27 hypopigmented skin patches 56 32 hallmark (90%) Very frequent (99-80%) HP:0001053
28 skin rash 56 32 hallmark (90%) Very frequent (99-80%) HP:0000988
29 retinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0000573
30 gait disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0001288
31 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783
32 osteolysis 56 32 frequent (33%) Frequent (79-30%) HP:0002797
33 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
34 uveitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000554
35 keratitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000491
36 cerebral ischemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002637
37 attention deficit hyperactivity disorder 56 32 frequent (33%) Frequent (79-30%) HP:0007018
38 delayed eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000684
39 supernumerary nipple 56 32 frequent (33%) Frequent (79-30%) HP:0002558
40 retinal vascular proliferation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007850
41 oral cleft 56 32 frequent (33%) Frequent (79-30%) HP:0000202
42 irregular hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007400
43 abnormal blistering of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008066
44 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
45 hearing abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000364
46 skin ulcer 56 32 frequent (33%) Frequent (79-30%) HP:0200042
47 abnormality of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000682
48 abnormality of dental morphology 56 32 frequent (33%) Frequent (79-30%) HP:0006482
49 chorioretinal abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0000532
50 abnormality of skin pigmentation 56 32 Very frequent (99-80%) HP:0001000

UMLS symptoms related to Incontinentia Pigmenti:


muscle spasticity, seizures

Drugs & Therapeutics for Incontinentia Pigmenti

Interventional clinical trials:


id 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:

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

Anatomical Context for Incontinentia Pigmenti

MalaCards organs/tissues related to Incontinentia Pigmenti:

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

Publications for Incontinentia Pigmenti

Articles related to Incontinentia Pigmenti:

(show top 50) (show all 218)
id Title Authors Year
1
Gene therapy decreases seizures in a model of Incontinentia pigmenti. ( 28628231 )
2017
2
Incontinentia pigmenti in a child with suspected retinoblastoma. ( 28932485 )
2017
3
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-I_B activation and leads to incontinentia pigmenti. ( 28249776 )
2017
4
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti. ( 28711407 )
2017
5
Keratoacanthoma-Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate. ( 28414858 )
2017
6
Incontinentia Pigmenti: AA Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols. ( 28870493 )
2017
7
Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti? ( 28394857 )
2017
8
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. ( 28702714 )
2017
9
Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease. ( 28785344 )
2017
10
Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report. ( 28533687 )
2017
11
Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). ( 28729805 )
2017
12
Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. ( 28794079 )
2017
13
Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome. ( 28937389 )
2017
14
Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years. ( 28791733 )
2017
15
ASSESSMENT OF THE RETINAL STRUCTURE IN CHILDREN WITH INCONTINENTIA PIGMENTI. ( 28085775 )
2017
16
A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage. ( 28643725 )
2017
17
Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti. ( 27173419 )
2016
18
Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti. ( 26777982 )
2016
19
Incontinentia pigmenti with retinal vascular anomaly and deletion of exons 4-10 in NEMO. ( 27666948 )
2016
20
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. ( 27602400 )
2016
21
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
22
Incontinentia Pigmenti. ( 27349142 )
2016
23
Distal Digital Keratoacanthoma in Patients With Incontinentia Pigmenti. ( 26614487 )
2016
24
Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report. ( 27412134 )
2016
25
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
26
The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti. ( 27297972 )
2016
27
Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti. ( 27586688 )
2016
28
Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti. ( 26706482 )
2016
29
Novel Macular Findings on Optical Coherence Tomography in Incontinentia Pigmenti. ( 27832283 )
2016
30
Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti. ( 27121774 )
2016
31
Incontinentia Pigmenti Coxsackium. ( 27396921 )
2016
32
Incontinentia Pigmenti presenting as a newborn eruption: two case presentations. ( 27617597 )
2016
33
A Multidisciplinary Approach to a Seven Year-Old Patient with Incontinentia Pigmenti: A Case Report and Five-Year Follow Up. ( 28127322 )
2016
34
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
35
SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI BY INTRAVITREAL RANIBIZUMAB AS ADJUNCT THERAPY IN A 4-YEAR-OLD CHILD. ( 27472514 )
2016
36
Incontinentia pigmenti in a father and daughter. ( 27037530 )
2016
37
Brain injury in neonatal incontinentia pigmenti: the role of multimodality neuroimaging. ( 27169815 )
2016
38
Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti. ( 26043102 )
2015
39
Incontinentia pigmenti (Bloch-Sulzberger syndrome). ( 26564087 )
2015
40
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. ( 26117626 )
2015
41
Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment. ( 25695859 )
2015
42
VARIABLE EXPRESSION OF RETINOPATHY IN A PEDIGREE OF PATIENTS WITH INCONTINENTIA PIGMENTI. ( 26035514 )
2015
43
A Novel Frameshift Mutation of the IKBKG Gene Causing Typical Incontinentia Pigmenti. ( 26946775 )
2015
44
Clinical study of 20 patients with incontinentia pigmenti. ( 26547887 )
2015
45
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. ( 25944529 )
2015
46
Bloch Sulzberger syndrome (Incontinentia Pigmenti): a rare case report with dental defects. ( 25572380 )
2015
47
Unique subungueal keratoacanthoma revealing incontinentia pigmenti. ( 26387562 )
2015
48
Incontinentia pigmenti: a rare genodermatosis in a male child. ( 25859498 )
2015
49
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy. ( 26658971 )
2015
50
Flare-up of incontinentia pigmenti in association with BehAset disease. ( 25631134 )
2015

Variations for Incontinentia Pigmenti

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

71
id Symbol AA change Variation ID SNP ID
1 IKBKG p.Met407Val VAR_009182 rs137853322
2 IKBKG p.Glu57Lys VAR_026491 rs148695964
3 IKBKG p.Arg123Trp VAR_026494 rs179363895
4 IKBKG p.Ala323Pro VAR_042666 rs179363865
5 IKBKG p.Leu170Pro VAR_072603
6 IKBKG p.Arg173Gln VAR_072604
7 IKBKG p.Gln183His VAR_072605
8 IKBKG p.Ala314Pro VAR_072606
9 IKBKG p.Leu322Pro VAR_072607
10 IKBKG p.His413Tyr VAR_072608

ClinVar genetic disease variations for Incontinentia Pigmenti:

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

Copy number variations for Incontinentia Pigmenti from CNVD:

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

Expression for Incontinentia Pigmenti

Search GEO for disease gene expression data for Incontinentia Pigmenti.

Pathways for Incontinentia Pigmenti

GO Terms for Incontinentia Pigmenti

Sources for Incontinentia Pigmenti

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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55 OMIM via Orphanet
59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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