Incontinentia Pigmenti, Type Ii malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Incontinentia Pigmenti, Type Ii

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46OMIM, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43NINDS, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 56SNOMED-CT, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Aliases & Descriptions for Incontinentia Pigmenti, Type Ii:

Name: Incontinentia Pigmenti, Type Ii 46 9
Incontinentia Pigmenti 46 8 64 19 42 21 43 44 48
Bloch-Sulzberger Syndrome 8 64 19 42 21 43 48
Incontinentia Pigmenti Syndrome 8 20 22
Bloch-Siemens Syndrome 42 21 48
Ip 64 42 21
Incontinentia Pigmenti, Familial Male-Lethal Type 42 61
Bloch-Siemens-Sulzberger Syndrome 21
Incontinentia Pigmenti Achromians 61
Incontinentia Pigmenti Type 2 42
Bloch Sulzberger Syndrome 61
Ip2 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 308300
Disease Ontology8 DOID:12305
MeSH33 D007184
NCIt39 C84787
Orphanet48 464
MESH via Orphanet34 D007184
ICD10 via Orphanet26 Q82.3
ICD1025 Q82.3

Summaries for Incontinentia Pigmenti, Type Ii

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NINDS:43 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, mental retardation, 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, Type Ii, also known as incontinentia pigmenti, is related to incontinentia pigmenti achromians and ectodermal dysplasia, and has symptoms including skin rash, hypopigmented skin patches and abnormality of the fingernails. An important gene associated with Incontinentia Pigmenti, Type Ii is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). Affiliated tissues include skin, eye and brain.

Genetics Home Reference:21 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:42 Incontinentia pigmenti (ip) is a genetic condition that affects the skin and other body systems. skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. the growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. most people with ip have normal intelligence, but some have developmental delay, intellectual disability, seizures, and/or other neurological problems. ip is caused by mutations in the ikbkg gene and is inherited in an x-linked dominant manner. last updated: 7/29/2014

OMIM:46 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...

GeneReviews summary for i-p

Related Diseases for Incontinentia Pigmenti, Type Ii

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

Diseases related to incontinentia pigmenti, type ii

Symptoms for Incontinentia Pigmenti, Type Ii

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 64)
  • anodontia/oligodontia/hypodontia
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • telangiectasiae of the skin
  • warts/papillomas
  • hair and scalp anomalies
  • nails anomalies
  • abnormal fingernails
  • absent/small fingernails/anonychia of hands
  • x-linked dominant inheritance
  • corneal clouding/opacity/vascularisation
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • cleft lip and palate
  • tooth shape anomaly
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of ear and hearing
  • supernumerary nipples/polythelia
  • anomalies of the ribs
  • scoliosis
  • anomalies of hands
  • complete claw hand/camptodactyly of all fingers
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • hyperhidrosis/increased sweating
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • alopecia
  • abnormal gait
  • hyperactivity/attention deficit
  • osteolysis/osteoclasia/bone destruction/erosions
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • eosinophils anomalies/hypereosinophilia
  • short stature/dwarfism/nanism
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • blue sclerae
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • cataract/lens opacification
  • retinal detachment
  • retinal vascular anomalies/retinal telangiectasia
  • retinal/chorioretinal dysplasia/dystrophy
  • enamel anomaly
  • spina bifida occulta
  • umbilical hernia
  • hand agenesis/absence
  • syndactyly of fingers/interdigital palm
  • dysplastic/thick/grooved fingernails
  • abnormal toenails
  • dysplastic/thick/grooved toenails
  • pulmonary hypertension
  • heart/cardiac failure
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • transient cerebral ischemia/stroke
  • encephalitis
  • motor deficit/trouble
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Incontinentia Pigmenti, Type Ii:

(show all 94)
id Description Frequency HPO Source Accession
1 skin rash hallmark (90%) HP:0000988
2 hypopigmented skin patches hallmark (90%) HP:0001053
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 anonychia hallmark (90%) HP:0001798
5 irregular hyperpigmentation hallmark (90%) HP:0007400
6 abnormal blistering of the skin hallmark (90%) HP:0008066
7 reduced number of teeth hallmark (90%) HP:0009804
8 teleangiectasia of the skin hallmark (90%) HP:0100585
9 verrucae hallmark (90%) HP:0200043
10 oral cleft typical (50%) HP:0000202
11 hearing abnormality typical (50%) HP:0000364
12 strabismus typical (50%) HP:0000486
13 visual impairment typical (50%) HP:0000505
14 delayed eruption of teeth typical (50%) HP:0000684
15 abnormality of the ribs typical (50%) HP:0000772
16 hyperkeratosis typical (50%) HP:0000962
17 hyperhidrosis typical (50%) HP:0000975
18 gait disturbance typical (50%) HP:0001288
19 alopecia typical (50%) HP:0001596
20 abnormality of eosinophils typical (50%) HP:0001879
21 supernumerary nipples typical (50%) HP:0002558
22 scoliosis typical (50%) HP:0002650
23 osteolysis typical (50%) HP:0002797
24 deviation of finger typical (50%) HP:0004097
25 short stature typical (50%) HP:0004322
26 abnormality of dental morphology typical (50%) HP:0006482
27 attention deficit hyperactivity disorder typical (50%) HP:0007018
28 opacification of the corneal stroma typical (50%) HP:0007759
29 abnormality of immune system physiology typical (50%) HP:0010978
30 camptodactyly of finger typical (50%) HP:0100490
31 asymmetric growth typical (50%) HP:0100555
32 skin ulcer typical (50%) HP:0200042
33 cataract occasional (7.5%) HP:0000518
34 chorioretinal abnormality occasional (7.5%) HP:0000532
35 retinal detachment occasional (7.5%) HP:0000541
36 blue sclerae occasional (7.5%) HP:0000592
37 abnormality of dental enamel occasional (7.5%) HP:0000682
38 abnormality of the fingernails occasional (7.5%) HP:0001231
39 seizures occasional (7.5%) HP:0001250
40 muscular hypotonia occasional (7.5%) HP:0001252
41 hypertonia occasional (7.5%) HP:0001276
42 umbilical hernia occasional (7.5%) HP:0001537
43 congestive heart failure occasional (7.5%) HP:0001635
44 pulmonary hypertension occasional (7.5%) HP:0002092
45 cerebral cortical atrophy occasional (7.5%) HP:0002120
46 encephalitis occasional (7.5%) HP:0002383
47 cerebral ischemia occasional (7.5%) HP:0002637
48 spina bifida occulta occasional (7.5%) HP:0003298
49 absent hand occasional (7.5%) HP:0004050
50 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
51 finger syndactyly occasional (7.5%) HP:0006101
52 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
53 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
54 abnormality of the toenail occasional (7.5%) HP:0008388
55 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
56 cognitive impairment occasional (7.5%) HP:0100543
57 microcephaly HP:0000252
58 strabismus HP:0000486
59 keratitis HP:0000491
60 cataract HP:0000518
61 retinal detachment HP:0000541
62 uveitis HP:0000554
63 microphthalmos HP:0000568
64 retinal hemorrhage HP:0000573
65 optic atrophy HP:0000648
66 hypodontia HP:0000668
67 delayed eruption of teeth HP:0000684
68 hyperkeratosis HP:0000962
69 abnormality of skin pigmentation HP:0001000
70 intellectual disability HP:0001249
71 seizures HP:0001250
72 spasticity HP:0001257
73 x-linked dominant inheritance HP:0001423
74 nail pits HP:0001803
75 thick nail HP:0001805
76 ridged nail HP:0001807
77 eosinophilia HP:0001880
78 nail dysplasia HP:0002164
79 coarse hair HP:0002208
80 fine hair HP:0002213
81 hypoplastic nipples HP:0002557
82 supernumerary nipples HP:0002558
83 kyphoscoliosis HP:0002751
84 hemivertebrae HP:0002937
85 breast hypoplasia HP:0003187
86 short stature HP:0004322
87 atrophic, patchy alopecia HP:0004529
88 supernumerary ribs HP:0005815
89 retinal vascular proliferation HP:0007850
90 sparse hair HP:0008070
91 nail dystrophy HP:0008404
92 erythema HP:0010783
93 scarring HP:0100699
94 breast aplasia HP:0100783

Drugs & Therapeutics for Incontinentia Pigmenti, Type Ii

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Drug clinical trials:

Search ClinicalTrials for Incontinentia Pigmenti, Type Ii

Search NIH Clinical Center for Incontinentia Pigmenti, Type Ii

Genetic Tests for Incontinentia Pigmenti, Type Ii

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Genetic tests related to Incontinentia Pigmenti, Type Ii:

id Genetic test Affiliating Genes
1 Incontinentia Pigmenti20 IKBKG
2 Incontinentia Pigmenti Syndrome22

Anatomical Context for Incontinentia Pigmenti, Type Ii

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MalaCards organs/tissues related to Incontinentia Pigmenti, Type Ii:

Skin, Eye, Brain, Cortex, Heart, Breast, Bone

Animal Models for Incontinentia Pigmenti, Type Ii or affiliated genes

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Publications for Incontinentia Pigmenti, Type Ii

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Variations for Incontinentia Pigmenti, Type Ii

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Incontinentia Pigmenti, Type Ii:

id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGIKBKG, EXON 4-10 DELdeletionPathogenic
2IKBKGIKBKG, 1-BP INS, 1110CinsertionPathogenic
3IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)single nucleotide variantPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
4IKBKGIKBKG, 10-BP INS, NT127insertionPathogenic
5IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

Expression for genes affiliated with Incontinentia Pigmenti, Type Ii

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Search GEO for disease gene expression data for Incontinentia Pigmenti, Type Ii.

Pathways for genes affiliated with Incontinentia Pigmenti, Type Ii

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Compounds for genes affiliated with Incontinentia Pigmenti, Type Ii

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GO Terms for genes affiliated with Incontinentia Pigmenti, Type Ii

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Sources for Incontinentia Pigmenti, Type Ii

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet