MCID: INC021
MIFTS: 57

Incontinentia Pigmenti malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Incontinentia Pigmenti

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Aliases & Descriptions for Incontinentia Pigmenti:

Name: Incontinentia Pigmenti 49 10 68 21 45 22 23 46 47 51 67 36
Bloch-Sulzberger Syndrome 10 68 21 45 22 23 46 12 51 67
Ip 68 45 22 23 67
Incontinentia Pigmenti, Familial Male-Lethal Type 45 65
Incontinentia Pigmenti Syndrome 10 24
Bloch-Siemens Syndrome 23 51
Ip2 45 67
 
Familial Incontinentia Pigmenti Male-Lethal Type 67
Familial Incontinentia Pigmenti Type Ii 67
Incontinentia Pigmenti Achromians 65
Bloch-Siemens-Sulzberger Syndrome 23
Incontinentia Pigmenti Type 2 45
Bloch Sulzberger Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61
incontinentia pigmenti:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 308300
Disease Ontology10 DOID:12305
ICD1027 Q82.3
MeSH36 D007184
NCIt42 C84787
Orphanet51 464
ICD10 via Orphanet28 Q82.3
MESH via Orphanet37 D007184
UMLS65 C0021171, C2930820

Summaries for Incontinentia Pigmenti

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NINDS:46 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 incontinentia pigmenti achromians and congenital disorder of glycosylation, type ip, and has symptoms including verrucae, telangiectasia of the skin and reduced number of teeth. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma), and among its related pathways are Small cell lung cancer and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. Affiliated tissues include skin, eye and heart.

NIH Rare Diseases:45 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:67 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:23 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:49 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...

Wikipedia:68 Incontinentia pigmenti (IP, also known as \"Bloch–Siemens syndrome,\" \"Bloch–Sulzberger disease,\"... more...

GeneReviews summary for NBK1472

Related Diseases for Incontinentia Pigmenti

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



Diseases related to incontinentia pigmenti

Symptoms for Incontinentia Pigmenti

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Symptoms by clinical synopsis from OMIM:

308300

Clinical features from OMIM:

308300

Symptoms:

 51 (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:

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

Drugs & Therapeutics for Incontinentia Pigmenti

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Role of Pseudogene in Incontinentia Pigmenti, and Its Potential TreatmentCompletedNCT00976586

Search NIH Clinical Center for Incontinentia Pigmenti


Cochrane evidence based reviews: incontinentia pigmenti

Genetic Tests for Incontinentia Pigmenti

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Genetic tests related to Incontinentia Pigmenti:

id Genetic test Affiliating Genes
1 Incontinentia Pigmenti22 IKBKG

Anatomical Context for Incontinentia Pigmenti

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MalaCards organs/tissues related to Incontinentia Pigmenti:

33
Skin, Eye, Heart, Brain, Cortex, Breast, Bone

Animal Models for Incontinentia Pigmenti or affiliated genes

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MGI Mouse Phenotypes related to Incontinentia Pigmenti:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Incontinentia Pigmenti

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Articles related to Incontinentia Pigmenti:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Outpatient oral treatment for acute promyelocytic leukemia. (25714181)
2015
2
Initial description of primate-specific cystine-knot Prometheus genes and differential gene expansions of D-dopachrome tautomerase genes. (25941635)
2015
3
Bullous Sweet's Syndrome After Granulocyte Colony-Stimulating Factor Therapy in a Child with Congenital Neutropenia. (24387761)
2014
4
Utility of Ki-67, p53, Bcl-2, and Cox-2 biomarkers for low-grade endometrial cancer and disordered proliferative/benign hyperplastic endometrium by imprint cytology. (23729350)
2014
5
Interaction of polymorphisms in mitotic regulator genes with cigarette smoking and pancreatic cancer risk. (23908141)
2013
6
Association of 11I^-hydroxysteroid dehydrogenase type 1 gene polymorphisms with serum alanine aminotransferase activity. (23375992)
2013
7
Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia. (24316408)
2013
8
A 52-year-old woman with headache, ataxia and loss of consciousness. (23653915)
2013
9
Cronkhite Canada syndrome with early colorectal carcinoma in a patient. (23240286)
2012
10
Helicobacter pylori infection and administration of non-steroidal anti-inflammatory drugs down-regulate the expression of gastrokine-1 in gastric mucosa. (22798109)
2012
11
Alpha-Dystrobrevin and its associated proteins in human promyelocytic leukemia cells induced to apoptosis. (22507200)
2012
12
Immunohistological studies on neoplasms of female and male Onchocerca volvulus: filarial origin and absence of Wolbachia from tumor cells. (20199697)
2010
13
Survival among children with portal vein thrombosis and end-stage liver disease. (19413719)
2010
14
ADF/cofilin: a functional node in cell biology. (20133134)
2010
15
Pharmacokinetics of S-1 and CYP2A6 genotype in Japanese patients with advanced cancer. (20596643)
2010
16
Oxidatively modified glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and Alzheimer's disease: many pathways to neurodegeneration. (20164570)
2010
17
Vascular cell adhesion molecule-1 is a regulator of ovarian cancer peritoneal metastasis. (19208843)
2009
18
Identification of gemin5 as a novel 7-methylguanosine cap-binding protein. (19750007)
2009
19
Presence, actions, and regulation of myostatin in rat uterus and myometrial cells. (18845635)
2009
20
Synthesis and biological evaluation of methanesulfonamide analogues of rofecoxib: Replacement of methanesulfonyl by methanesulfonamido decreases cyclooxygenase-2 selectivity. (17067801)
2007
21
Isolation, characterization, and differentiation to hepatocyte-like cells of nonparenchymal epithelial cells from adult human liver. (17412893)
2007
22
Hyperostosis frontalis interna. (16476822)
2006
23
Direct neuronal effects of statins]. (16028081)
2006
24
Mitochondrial inhibition of uracil-DNA glycosylase is not mutagenic. (15574194)
2004
25
MDR1 mRNA expressions in peripheral blood mononuclear cells of patients with ulcerative colitis in relation to glucocorticoid administration. (15102868)
2004
26
Chromosomal integration and homologous gene targeting by replication-incompetent vectors based on the autonomous parvovirus minute virus of mice. (14645570)
2003
27
Telomerase expression as a marker in prostate cancer: correlation to clinicopathologic predictors. (15053304)
2003
28
Pituitary tumor transforming gene and fibroblast growth factor-2 expression: potential prognostic indicators in differentiated thyroid cancer. (12727994)
2003
29
Trichilemmoma and syringocystadenoma papilliferum arising in naevus sebaceous. (12009106)
2002
30
Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. (11167926)
2001
31
A leg ulcer due to protein C deficiency: successful treatment with split thickness skin graft after protein C supplementation. (11603395)
2001
32
New revelations in susceptibility to autoimmune thyroiditis by the use of H2 and HLA class II transgenic models. (11129116)
2000
33
Management of endemic outbreaks of scabies with allethrin, permethrin, and ivermectin. (10944095)
2000
34
Autoreactive responses to pyruvate dehydrogenase complex in the pathogenesis of primary biliary cirrhosis. (10807520)
2000
35
Luteinizing hormone releasing hormone-RNase A conjugates specifically inhibit the proliferation of LHRH-receptor-positive human prostate and breast tumor cells. (10102568)
1999
36
Expression of metabotropic glutamate receptor subtype mRNA (mGluR1-8) in human cerebellum. (10716224)
1999
37
From cytoskeleton to polarity and chemoreception in the gut epithelium. (9928371)
1998
38
HLA-independent heterogeneity of CD8+ T cell responses to MAGE-3, Melan-A/MART-1, gp100, tyrosinase, MC1R, and TRP-2 in vaccine-treated melanoma patients. (9862732)
1998
39
Urinary retinol excretion and kidney function in children with shigellosis. (9808228)
1998
40
Shaken baby syndrome: a nursing perspective. (7715967)
1995
41
Cohort study of incidence of sudden unexplained death in persons with seizure disorder treated with antiepileptic drugs in Saskatchewan, Canada. (8001505)
1995
42
High levels of expression of neuropeptide Y mRNA in human phaeochromocytomas. (7955545)
1994
43
Molecular analysis of genomic abnormalities in human gliomas. (8174086)
1994
44
Therapy of toxic shock syndrome. (2196166)
1990
45
Periosteal chondroma: a review of the literature and case report. (3512684)
1986
46
Hemodynamic effect of hydralazine in advanced, stable chronic obstructive pulmonary disease with cor pulmonale. Immediate and short-term evaluation at rest and during exercise. (6692695)
1984
47
Placental morphology of newborns at risk for congenital toxoplasmosis. (6854713)
1983
48
Clues for the early diagnosis of Ludwig's angina. (7082120)
1982
49
Increased fecal thyroxine losses. With protein-losing enteropathy. (4528601)
1974
50
Discussion on Paratyphoid Fever. (19979288)
1916

Variations for Incontinentia Pigmenti

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

67
id Symbol AA change Variation ID SNP ID
1IKBKGp.Met407ValVAR_009182
2IKBKGp.Glu57LysVAR_026491rs148695964
3IKBKGp.Arg123TrpVAR_026494rs179363895
4IKBKGp.Ala323ProVAR_042666rs179363865
5IKBKGp.Leu170ProVAR_072603
6IKBKGp.Arg173GlnVAR_072604
7IKBKGp.Gln183HisVAR_072605
8IKBKGp.Ala314ProVAR_072606
9IKBKGp.Leu322ProVAR_072607
10IKBKGp.His413TyrVAR_072608

Clinvar genetic disease variations for Incontinentia Pigmenti:

5
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
4IKBKGNM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp)single nucleotide variantPathogenicrs137853321GRCh37Chr X, 153792675: 153792675
5IKBKGIKBKG, 10-BP INS, NT127insertionPathogenic
6IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

Expression for genes affiliated with Incontinentia Pigmenti

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Search GEO for disease gene expression data for Incontinentia Pigmenti.

Pathways for genes affiliated with Incontinentia Pigmenti

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Pathways related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.5IKBKG, TRAF6
2
Show member pathways
9.5IKBKG, TRAF6
39.5IKBKG, TRAF6
4
Show member pathways
9.5IKBKG, TRAF6
5
Show member pathways
9.5IKBKG, TRAF6
6
Show member pathways
9.5IKBKG, TRAF6
7
Show member pathways
9.5IKBKG, TRAF6
89.5IKBKG, TRAF6
99.5IKBKG, TRAF6
10
Show member pathways
9.5IKBKG, TRAF6
119.5IKBKG, TRAF6
129.5IKBKG, TRAF6
13
Show member pathways
9.0CCL11, IKBKG, TRAF6
14
Show member pathways
8.7EDA, IKBKG, TRAF6

GO Terms for genes affiliated with Incontinentia Pigmenti

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Biological processes related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to virusGO:000961510.0CCL11, IKBKG
2nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:003587210.0IKBKG, TRAF6
3stimulatory C-type lectin receptor signaling pathwayGO:00022239.9IKBKG, TRAF6
4activation of MAPK activityGO:00001879.9IKBKG, TRAF6
5toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.9IKBKG, TRAF6
6MyD88-dependent toll-like receptor signaling pathwayGO:00027559.8IKBKG, TRAF6
7I-kappaB kinase/NF-kappaB signalingGO:00072499.8IKBKG, TRAF6
8stress-activated MAPK cascadeGO:00514039.7IKBKG, TRAF6
9TRIF-dependent toll-like receptor signaling pathwayGO:00356669.5IKBKG, TRAF6
10MyD88-independent toll-like receptor signaling pathwayGO:00027569.4IKBKG, TRAF6
11odontogenesis of dentin-containing toothGO:00424759.4EDA, TRAF6
12toll-like receptor 5 signaling pathwayGO:00341469.2IKBKG, TRAF6
13positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1EDA, IKBKG, TRAF6
14immune responseGO:00069559.0CCL11, IKBKG, TRAF6
15positive regulation of NF-kappaB transcription factor activityGO:00510928.9EDA, IKBKG, TRAF6

Sources for Incontinentia Pigmenti

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet