IP
MCID: BLC003
MIFTS: 52

Bloch-Sulzberger Syndrome (IP) malady

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

Summaries for Bloch-Sulzberger Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 46OMIM, 19GeneReviews, 32MalaCards
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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: Bloch-Sulzberger Syndrome, also known as incontinentia pigmenti, is related to retinitis and klinefelter's syndrome, and has symptoms including pulmonary hypertension, retinal/chorioretinal dysplasia/dystrophy and enamel anomaly. An important gene associated with Bloch-Sulzberger Syndrome is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). Affiliated tissues include skin, eye and cortex.

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 affecting the skin and other body systems. skin symptoms change with time, beginning with a blistering rash in infancy, followed by wart-like skin growths, which then become swirled grey or brown patches in childhood, to 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 fingernails and toenails. most people with incontinentia pigmenti have normal intelligence, however some have delayed development, intellectual disability, seizures, or other neurological problems. ip is caused by mutations in the ikbkg gene. it is inherited in an x-linked dominant fashion. last updated: 4/18/2011

Description from OMIM:46 308300

GeneReviews summary for i-p

Aliases & Classifications for Bloch-Sulzberger Syndrome

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
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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


Aliases & Descriptions:

bloch-sulzberger syndrome 8 63 19 42 21 43 48
incontinentia pigmenti 8 63 19 42 20 22 21 43 44 48
ip 63 42 21
bloch-siemens syndrome 21 48
incontinentia pigmenti, familial male-lethal type 42
bloch-siemens-sulzberger syndrome 21
incontinentia pigmenti syndrome 8
incontinentia pigmenti, type ii 46
incontinentia pigmenti type 2 42
bloch sulzberger syndrome 60
ip2 42


External Ids:

Disease Ontology8 DOID:12305
MeSH34 D007184
NCIt39 C84787
OMIM46 308300
MESH via Orphanet35 D007184
ICD10 via Orphanet26 Q82.3
SNOMED-CT via Orphanet57 367520004
ICD1025 Q82.3

Related Diseases for Bloch-Sulzberger Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Bloch-Sulzberger Syndrome:



Diseases related to bloch-sulzberger syndrome

Clinical Features for Bloch-Sulzberger Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

308300

Clinical synopsis from OMIM:

308300

Symptoms:

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

Drugs & Therapeutics for Bloch-Sulzberger Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Bloch-Sulzberger Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Bloch-Sulzberger Syndrome:

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

Anatomical Context for Bloch-Sulzberger Syndrome

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32MalaCards
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MalaCards organs/tissues related to Bloch-Sulzberger Syndrome:

32
Skin, Eye, Cortex, Brain, Heart, Bone

Animal Models for Bloch-Sulzberger Syndrome or affiliated genes

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Publications for Bloch-Sulzberger Syndrome

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50PubMed
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Articles related to Bloch-Sulzberger Syndrome:

(show all 44)
idTitleAuthorsYear
1
X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report. (20676473)
2010
2
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. (17569396)
2007
3
Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. (15998988)
2005
4
Particularities of clinic expression in a case of Bloch-Sulzberger syndrome. (16268899)
2005
5
General and dental characteristics of Bloch-Sulzberger syndrome. Review of literature and presentation of a case report. (12134130)
2002
6
Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). (11185738)
2000
7
A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report. (11098039)
2000
8
Incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosisto related dermato-ocular syndromes. (9838260)
1999
9
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of case. (10476362)
1999
10
Bilateral macular lesions in incontinentia pigmenti. Bloch-Sulzberger syndrome. (8927808)
1996
11
Incontinentia pigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations. (8934072)
1996
12
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of a case and review of the Indian literature. (10829854)
1995
13
Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). (8233390)
1993
14
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (8423608)
1993
15
Incontinentia pigmenti (Bloch-Sulzberger syndrome) manifesting as painful periungual and subungual tumours. (8294840)
1993
16
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. (8217891)
1993
17
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. (1889027)
1991
18
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report. (2052332)
1991
19
Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family. (3115288)
1987
20
Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes. (6689930)
1984
21
Incontinentia pigmenti. 6 cases of Bloch-Sulzberger syndrome. (6952894)
1982
22
Ocular findings in a case of incontinentia pigmenti (Bloch-Sulzberger syndrome). (7301285)
1981
23
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. (708679)
1978
24
Encephalitis in two members of a family with incontinentia pigmenti (Bloch-Sulzberger syndrome). The possible role of inflammation in the pathogenesis of CNS involvement. (28229)
1978
25
Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger. (844872)
1977
26
Retinoblastoma in Bloch-Sulzberger syndrome. (958669)
1976
27
Incontinentia pigmenti (Bloch-Sulzberger syndrome) associated with acute granulocytic leukemia. (1059263)
1975
28
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (4623670)
1972
29
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A report of four additional cases. (5000498)
1971
30
An electron microscopical study of Bloch-Sulzberger syndrome (incontinentia pigmenti). (4103027)
1971
31
Incontinentia pigmenti (Bloch-Sulzberger syndrome). Report of a Negro infant with typical skin lesions, alopecia, and delayed atypical dentition. (5768511)
1969
32
Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. (5653080)
1968
33
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report. (5244314)
1968
34
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report with emphasis on dental manifestations. (4864182)
1967
35
Retrolental membrane associated with Bloch-Sulzberger syndrome (incontinentia pigmenti). (5952711)
1966
36
Bloch-Sulzberger Syndrome (incontinentia pigmenti). (4960353)
1966
37
THE BLOCH-SULZBERGER SYNDROME IN AN ENGLISH FAMILY. (14084651)
1963
38
Incontinentia pigment (Bloch-Sulzberger syndrome). Report of two cases. (13751929)
1961
39
The Bloch-Sulzberger syndrome (incontinentia pigmenti). (14428058)
1959
40
Incontinentia pigmenti (Bloch-Sulzberger syndrome); a generalized disease. (13626379)
1959
41
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome). (13508798)
1958
42
Pigmentation in the Bloch-Sulzberger syndrome (incontinentia pigmenti). (13361491)
1956
43
Ocular changes in the Bloch-Sulzberger syndrome (Incontinentia pigmenti) (14378509)
1955
44
Incontinentia pigmenti; Bloch-Sulzberger syndrome. (13120280)
1953

Genetic Variations for Bloch-Sulzberger Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Bloch-Sulzberger Syndrome:

62
id Symbol AA change Variation ID SNP ID
1IKBKGp.Met407ValVAR_009182
2IKBKGp.Glu57LysVAR_026491rs148695964
3IKBKGp.Arg123TrpVAR_026494rs179363895
4IKBKGp.Ala323ProVAR_042666rs179363865

Expression for genes affiliated with Bloch-Sulzberger Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bloch-Sulzberger Syndrome

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Pathways for genes affiliated with Bloch-Sulzberger Syndrome

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Compounds for genes affiliated with Bloch-Sulzberger Syndrome

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GO Terms for genes affiliated with Bloch-Sulzberger Syndrome

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Products for genes affiliated with Bloch-Sulzberger Syndrome

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  • Antibodies
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Sources for Bloch-Sulzberger Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet