IP
MCID: INC001
MIFTS: 55

Incontinentia Pigmenti Achromians (IP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Incontinentia Pigmenti Achromians

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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 Achromians, also known as incontinentia pigmenti, is related to hemimegalencephaly and ectodermal dysplasia, and has symptoms including anodontia/oligodontia/hypodontia, cutaneous rash and erythema/erythematous lesions/erythroderma/polymorphous erythema. An important gene associated with Incontinentia Pigmenti Achromians is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). The drug dihydroxyacetone has been mentioned in the context of this disorder. 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 Hypomelanosis of ito, also called incontinentia pigmenti achromians, is a rare birth defect that causes streaked, whirled, or mottled patches of light-colored skin. these skin changes often develop within the first two years of life. other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus. the underlying cause of the condition is currently unknown. girls tend to be affected more commonly than boys. last updated: 2/24/2012

Wikipedia:65 Incontinentia pigmenti achromians (also known as \"Hypomelanosis of Ito\") is a cutaneous condition... more...

Descriptions from OMIM:46 308300,300337

GeneReviews summary for i-p

Aliases & Classifications for Incontinentia Pigmenti Achromians

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Sources:
65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 43NINDS, 44Novoseek, 62UMLS, 8Disease Ontology, 20GeneTests, 22GTR, 46OMIM, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Incontinentia Pigmenti Achromians, Aliases & Descriptions:

Name: Incontinentia Pigmenti Achromians 8 42 62
Incontinentia Pigmenti 65 19 42 21 43 44 48 62
Bloch-Sulzberger Syndrome 65 19 42 21 48
Nevus of Ito 8 42 48 62
Incontinentia Pigmenti Syndrome 8 20 22
Hypomelanosis of Ito 8 42 48
Ito Hypomelanosis 42 48 46
Ip 65 42 21
Incontinentia Pigmenti Achromians Syndrome 8 62
Bloch-Siemens-Sulzberger Syndrome 21 62
Incontinentia Pigmenti Type 1 42 48
Bloch-Siemens Syndrome 21 48
Incontinentia Pigmenti, Familial Male-Lethal Type 42
 
Incontinentia Pigmenti, Type Ii 46
Pigmentary Mosaicism, Ito Type 48
Incontinentia Pigmenti Type 2 42
Hypopigmentation Disorder 62
Bloch Sulzberger Syndrome 62
Benign Melanocytic Nevus 62
Bloch-Siemans Syndrome 8
Ito's Nevus 8
Hi Syndrome 48
Nevi of Ito 42
Ipa 42
Ip2 42
Ito 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
incontinentia pigmenti:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
nevus of ito:
Inheritance: Sporadic; Age of onset: Variable
hypomelanosis of ito:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive; Age of onset: Childhood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:3156
NCIt39 C7582
MeSH34 D010859
MESH via Orphanet35 D007184
ICD10 via Orphanet26 Q82.3, D22.6, Q87.8
UMLS via Orphanet63 C0022283
ICD1025 Q82.3

Related Diseases for Incontinentia Pigmenti Achromians

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



Diseases related to incontinentia pigmenti achromians

Symptoms for Incontinentia Pigmenti Achromians

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Symptoms by clinical synopsis from OMIM:

300337

Clinical features from OMIM:

308300,300337

Symptoms:

48 (show all 95)
  • 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
  • large fontanelle/delayed fontanelle closure
  • aniridia/iris hypoplasia
  • heterochromia/mixed colouring of iris
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • macular pigmentary anomaly/cherry-red spot
  • myopia
  • total/partial trisomy/duplication
  • insterstitial/subtelomeric microdeletion/deletion
  • microcephaly
  • dolichocephaly/scaphocephaly
  • brachycephaly/flat occiput
  • coloboma of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • nystagmus
  • flattened nose
  • palate exostoses/torus palatinus
  • upper limb segmental anomalies
  • fingerlike/triphalangeal thumb
  • lower limb segmental anomalies
  • genu varum
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hirsutism/hypertrichosis/increased body hair
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • renal disease/nephropathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • schizencephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intrauterine growth retardation

HPO human phenotypes related to Incontinentia Pigmenti Achromians:

(show all 158)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 strabismus hallmark (90%) HP:0000486
3 hypopigmented skin patches hallmark (90%) HP:0001053
4 heterochromia iridis hallmark (90%) HP:0001100
5 seizures hallmark (90%) HP:0001250
6 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
7 skin rash hallmark (90%) HP:0000988
8 hypopigmented skin patches hallmark (90%) HP:0001053
9 abnormality of the fingernails hallmark (90%) HP:0001231
10 anonychia hallmark (90%) HP:0001798
11 irregular hyperpigmentation hallmark (90%) HP:0007400
12 abnormal blistering of the skin hallmark (90%) HP:0008066
13 reduced number of teeth hallmark (90%) HP:0009804
14 teleangiectasia of the skin hallmark (90%) HP:0100585
15 verrucae hallmark (90%) HP:0200043
16 macrocephaly typical (50%) HP:0000256
17 hypertelorism typical (50%) HP:0000316
18 myopia typical (50%) HP:0000545
19 upslanted palpebral fissure typical (50%) HP:0000582
20 abnormality of the macula typical (50%) HP:0001103
21 muscular hypotonia typical (50%) HP:0001252
22 abnormality of chromosome segregation typical (50%) HP:0002916
23 spina bifida occulta typical (50%) HP:0003298
24 abnormality of dental morphology typical (50%) HP:0006482
25 opacification of the corneal stroma typical (50%) HP:0007759
26 cognitive impairment typical (50%) HP:0100543
27 oral cleft typical (50%) HP:0000202
28 hearing abnormality typical (50%) HP:0000364
29 strabismus typical (50%) HP:0000486
30 visual impairment typical (50%) HP:0000505
31 delayed eruption of teeth typical (50%) HP:0000684
32 abnormality of the ribs typical (50%) HP:0000772
33 hyperkeratosis typical (50%) HP:0000962
34 hyperhidrosis typical (50%) HP:0000975
35 gait disturbance typical (50%) HP:0001288
36 alopecia typical (50%) HP:0001596
37 abnormality of eosinophils typical (50%) HP:0001879
38 supernumerary nipples typical (50%) HP:0002558
39 scoliosis typical (50%) HP:0002650
40 osteolysis typical (50%) HP:0002797
41 deviation of finger typical (50%) HP:0004097
42 short stature typical (50%) HP:0004322
43 abnormality of dental morphology typical (50%) HP:0006482
44 attention deficit hyperactivity disorder typical (50%) HP:0007018
45 opacification of the corneal stroma typical (50%) HP:0007759
46 abnormality of immune system physiology typical (50%) HP:0010978
47 camptodactyly of finger typical (50%) HP:0100490
48 asymmetric growth typical (50%) HP:0100555
49 skin ulcer typical (50%) HP:0200042
50 cryptorchidism occasional (7.5%) HP:0000028
51 nephropathy occasional (7.5%) HP:0000112
52 microcephaly occasional (7.5%) HP:0000252
53 dolichocephaly occasional (7.5%) HP:0000268
54 hearing abnormality occasional (7.5%) HP:0000364
55 depressed nasal ridge occasional (7.5%) HP:0000457
56 chorioretinal coloboma occasional (7.5%) HP:0000567
57 iris coloboma occasional (7.5%) HP:0000612
58 nystagmus occasional (7.5%) HP:0000639
59 hypertrichosis occasional (7.5%) HP:0000998
60 triphalangeal thumb occasional (7.5%) HP:0001199
61 intrauterine growth retardation occasional (7.5%) HP:0001511
62 abnormality of neuronal migration occasional (7.5%) HP:0002269
63 scoliosis occasional (7.5%) HP:0002650
64 genu varum occasional (7.5%) HP:0002970
65 deviation of finger occasional (7.5%) HP:0004097
66 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
67 schizencephaly occasional (7.5%) HP:0010636
68 arteriovenous malformation occasional (7.5%) HP:0100026
69 camptodactyly of finger occasional (7.5%) HP:0100490
70 asymmetric growth occasional (7.5%) HP:0100555
71 torus palatinus occasional (7.5%) HP:0100789
72 cataract occasional (7.5%) HP:0000518
73 chorioretinal abnormality occasional (7.5%) HP:0000532
74 retinal detachment occasional (7.5%) HP:0000541
75 blue sclerae occasional (7.5%) HP:0000592
76 abnormality of dental enamel occasional (7.5%) HP:0000682
77 abnormality of the fingernails occasional (7.5%) HP:0001231
78 seizures occasional (7.5%) HP:0001250
79 muscular hypotonia occasional (7.5%) HP:0001252
80 hypertonia occasional (7.5%) HP:0001276
81 umbilical hernia occasional (7.5%) HP:0001537
82 congestive heart failure occasional (7.5%) HP:0001635
83 pulmonary hypertension occasional (7.5%) HP:0002092
84 cerebral cortical atrophy occasional (7.5%) HP:0002120
85 encephalitis occasional (7.5%) HP:0002383
86 cerebral ischemia occasional (7.5%) HP:0002637
87 spina bifida occulta occasional (7.5%) HP:0003298
88 absent hand occasional (7.5%) HP:0004050
89 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
90 finger syndactyly occasional (7.5%) HP:0006101
91 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
92 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
93 abnormality of the toenail occasional (7.5%) HP:0008388
94 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
95 cognitive impairment occasional (7.5%) HP:0100543
96 thick lower lip vermilion HP:0000179
97 microcephaly HP:0000252
98 macrocephaly HP:0000256
99 coarse facial features HP:0000280
100 epicanthus HP:0000286
101 hypertelorism HP:0000316
102 strabismus HP:0000486
103 cataract HP:0000518
104 iris coloboma HP:0000612
105 syndactyly HP:0001159
106 hand polydactyly HP:0001161
107 intellectual disability HP:0001249
108 seizures HP:0001250
109 heterogeneous HP:0001425
110 somatic mosaicism HP:0001442
111 alopecia HP:0001596
112 abnormality of metabolism/homeostasis HP:0001939
113 cerebral atrophy HP:0002059
114 gray matter heterotopias HP:0002281
115 scoliosis HP:0002650
116 kyphosis HP:0002808
117 macular hypopigmented whorls, streaks, and patches HP:0005593
118 irregularly spaced teeth HP:0006316
119 radial deviation of finger HP:0009466
120 clinodactyly HP:0030084
121 microcephaly HP:0000252
122 strabismus HP:0000486
123 keratitis HP:0000491
124 cataract HP:0000518
125 retinal detachment HP:0000541
126 uveitis HP:0000554
127 microphthalmos HP:0000568
128 retinal hemorrhage HP:0000573
129 optic atrophy HP:0000648
130 hypodontia HP:0000668
131 delayed eruption of teeth HP:0000684
132 hyperkeratosis HP:0000962
133 abnormality of skin pigmentation HP:0001000
134 intellectual disability HP:0001249
135 seizures HP:0001250
136 spasticity HP:0001257
137 x-linked dominant inheritance HP:0001423
138 nail pits HP:0001803
139 thick nail HP:0001805
140 ridged nail HP:0001807
141 eosinophilia HP:0001880
142 nail dysplasia HP:0002164
143 coarse hair HP:0002208
144 fine hair HP:0002213
145 hypoplastic nipples HP:0002557
146 supernumerary nipples HP:0002558
147 kyphoscoliosis HP:0002751
148 hemivertebrae HP:0002937
149 breast hypoplasia HP:0003187
150 short stature HP:0004322
151 atrophic, patchy alopecia HP:0004529
152 supernumerary ribs HP:0005815
153 retinal vascular proliferation HP:0007850
154 sparse hair HP:0008070
155 nail dystrophy HP:0008404
156 erythema HP:0010783
157 scarring HP:0100699
158 breast aplasia HP:0100783

Drugs & Therapeutics for Incontinentia Pigmenti Achromians

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Drug clinical trials:

Search ClinicalTrials for Incontinentia Pigmenti Achromians

Search NIH Clinical Center for Incontinentia Pigmenti Achromians

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Incontinentia Pigmenti Achromians

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Genetic tests related to Incontinentia Pigmenti Achromians:

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

Anatomical Context for Incontinentia Pigmenti Achromians

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MalaCards organs/tissues related to Incontinentia Pigmenti Achromians:

32
Skin, Eye, Brain, Cortex, Testes, Bone, Cerebellum, Heart, Small intestine

Animal Models for Incontinentia Pigmenti Achromians or affiliated genes

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Publications for Incontinentia Pigmenti Achromians

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Articles related to Incontinentia Pigmenti Achromians:

(show all 36)
idTitleAuthorsYear
1
Incontinentia pigmenti achromians of Ito: an ultrastructural study. (16579015)
2006
2
Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians. (15531848)
2004
3
Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case. (8747421)
1995
4
Incontinentia pigmenti achromians-like depigmentation in the mother of a baby with typical incontinentia pigmenti. (8024287)
1994
5
Hypomelanosis of Ito (incontinentia pigmenti achromians). (7511121)
1994
6
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. (8322815)
1993
7
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). (1623628)
1992
8
Incontinentia pigmenti achromians (Ito) in a West African. (1644036)
1992
9
Labial talon cusp in a child with incontinentia pigmenti achromians: case report. (1886829)
1991
10
The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). (1890574)
1991
11
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. (2096355)
1990
12
Ocular symptomatology in familial hypomelanosis Ito. Incontinentia pigmenti achromians. (2320353)
1990
13
Hypomelanosis of Ito (incontinentia pigmenti achromians). (3248857)
1988
14
Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases. (3709001)
1986
15
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. (3464561)
1986
16
Insulin dependent diabetes and goitre in a case of hypomelanosis of Ito (Incontinentia Pigmenti Achromians). (4037692)
1985
17
Congenital cranio-facial dysmorphosis associated with Ito's syndrome (incontinentia pigmenti achromians): a case report. (6498382)
1984
18
Incontinentia pigmenti achromians (Ito). (6847218)
1983
19
Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. (7202148)
1982
20
Incontinentia pigmenti achromians and morphoea: a case report. (7296961)
1981
21
Ultrastructure of incontinentia pigmenti achromians, with special reference to melanocytes and nerve endings. (7035514)
1981
22
Incontinentia pigmenti achromians. (6113199)
1981
23
Incontinentia pigmenti achromians (Ito). (15462075)
1980
24
Focal cerebral atrophy in incontinentia pigmenti achromians. (7395837)
1980
25
A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). (290427)
1979
26
Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report. (553451)
1979
27
Incontinentia pigmenti achromians (Ito's hypomelanosis). (856747)
1977
28
Ultrastructural studies of vitiligo, Vogt-Koyanagi syndrome, and incontinentia pigmenti achromians. (869545)
1977
29
Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. (830915)
1977
30
Incontinentia pigmenti achromians (hypomelanosis of Ito). (884049)
1977
31
Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. (1062218)
1976
32
Incontinentia pigmenti achromians (Ito). (50700)
1975
33
Incontinentia pigmenti achromians. (1137418)
1975
34
Systematized hypochromic nevus. Incontinentia pigmenti achromians of Ito. (4639251)
1972
35
Incontinentia pigmenti achromians. Multiple cases within a family. (5012145)
1972
36
"Incontinentia pigmenti achromians (Ito)". (6075785)
1967

Variations for Incontinentia Pigmenti Achromians

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

64
id Symbol AA change Variation ID SNP ID
1IKBKGp.Met407ValVAR_009182
2IKBKGp.Glu57LysVAR_026491rs148695964
3IKBKGp.Arg123TrpVAR_026494rs179363895
4IKBKGp.Ala323ProVAR_042666rs179363865

Clinvar genetic disease variations for Incontinentia Pigmenti Achromians:

6
id Gene Name 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 Achromians

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Expression patterns in normal tissues for genes affiliated with Incontinentia Pigmenti Achromians

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Pathways for genes affiliated with Incontinentia Pigmenti Achromians

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Compounds for genes affiliated with Incontinentia Pigmenti Achromians

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GO Terms for genes affiliated with Incontinentia Pigmenti Achromians

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Products for genes affiliated with Incontinentia Pigmenti Achromians

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  • Antibodies
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Sources for Incontinentia Pigmenti Achromians

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet