IP
MCID: BLC003
MIFTS: 50

Bloch-Sulzberger Syndrome (IP) malady

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

Summaries for Bloch-Sulzberger Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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 incontinentia pigmenti achromians and ectodermal dysplasia, 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:22 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:44 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

Description from OMIM:48 308300

GeneReviews summary for i-p

Aliases & Classifications for Bloch-Sulzberger Syndrome

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9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 50Orphanet, 46Novoseek, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 41NCIt, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
incontinentia pigmenti:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

bloch-sulzberger syndrome 9 66 20 44 22 45 50
incontinentia pigmenti 9 66 20 44 22 45 46 50
incontinentia pigmenti syndrome 9 21 23
ip 66 44 22
bloch-siemens syndrome 22 50
incontinentia pigmenti, familial male-lethal type 44
bloch-siemens-sulzberger syndrome 22
incontinentia pigmenti, type ii 48
incontinentia pigmenti type 2 44
bloch sulzberger syndrome 63
ip2 44


External Ids:

Disease Ontology9 DOID:12305
NCIt41 C84787
MeSH36 D007184
OMIM48 308300
MESH via Orphanet37 D007184
ICD10 via Orphanet27 Q82.3
SNOMED-CT via Orphanet60 367520004
ICD1026 Q82.3

Related Diseases for Bloch-Sulzberger Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Bloch-Sulzberger Syndrome:



Diseases related to bloch-sulzberger syndrome

Symptoms for Bloch-Sulzberger Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

308300

Clinical features from OMIM:

308300

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Bloch-Sulzberger Syndrome:

id Genetic test Affiliating Genes
1 Incontinentia Pigmenti21 IKBKG
2 Incontinentia Pigmenti Syndrome23

Anatomical Context for Bloch-Sulzberger Syndrome

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34MalaCards
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MalaCards organs/tissues related to Bloch-Sulzberger Syndrome:

34
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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53PubMed
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Articles related to Bloch-Sulzberger Syndrome:

(show all 43)
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
Retinoblastoma in Bloch-Sulzberger syndrome. (958669)
1976
26
Incontinentia pigmenti (Bloch-Sulzberger syndrome) associated with acute granulocytic leukemia. (1059263)
1975
27
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (4623670)
1972
28
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A report of four additional cases. (5000498)
1971
29
An electron microscopical study of Bloch-Sulzberger syndrome (incontinentia pigmenti). (4103027)
1971
30
Incontinentia pigmenti (Bloch-Sulzberger syndrome). Report of a Negro infant with typical skin lesions, alopecia, and delayed atypical dentition. (5768511)
1969
31
Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. (5653080)
1968
32
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report. (5244314)
1968
33
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report with emphasis on dental manifestations. (4864182)
1967
34
Retrolental membrane associated with Bloch-Sulzberger syndrome (incontinentia pigmenti). (5952711)
1966
35
Bloch-Sulzberger Syndrome (incontinentia pigmenti). (4960353)
1966
36
THE BLOCH-SULZBERGER SYNDROME IN AN ENGLISH FAMILY. (14084651)
1963
37
Incontinentia pigment (Bloch-Sulzberger syndrome). Report of two cases. (13751929)
1961
38
The Bloch-Sulzberger syndrome (incontinentia pigmenti). (14428058)
1959
39
Incontinentia pigmenti (Bloch-Sulzberger syndrome); a generalized disease. (13626379)
1959
40
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome). (13508798)
1958
41
Pigmentation in the Bloch-Sulzberger syndrome (incontinentia pigmenti). (13361491)
1956
42
Ocular changes in the Bloch-Sulzberger syndrome (Incontinentia pigmenti) (14378509)
1955
43
Incontinentia pigmenti; Bloch-Sulzberger syndrome. (13120280)
1953

Variations for Bloch-Sulzberger Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Bloch-Sulzberger Syndrome:

65
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 Bloch-Sulzberger Syndrome:

1
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 Bloch-Sulzberger Syndrome

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2BioGPS, 16Gene 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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Sources for Bloch-Sulzberger Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet