PedAM

Pediatric Disease Annotations & Medicines


	bloch-siemens syndrome

Disease ID	624
Disease	bloch-siemens syndrome
Definition	A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.
Synonym	asboe-hansen disease bloch sulzberger syndrome bloch-siemans syndrome bloch-siemens-sulzberger syndrome bloch-sulzberger melanoblastoma bloch-sulzberger syndrome incontinentia pigmenti incontinentia pigmenti (disorder) incontinentia pigmenti [disease/finding] incontinentia pigmenti of bloch-sulzberger incontinentia pigmenti syndrome incontinentia pigmenti syndrome (disorder) incontinentia pigmenti syndrome (disorder) [ambiguous] ip - incontinentia pigmenti nevus pigmentosus systematicus syndrome, bloch-sulzberger
Orphanet	ORPHANET:464
OMIM	OMIM:308300
DOID	DOID:12305 DOID:3156
ICD10	ICD10CM:Q82.3
UMLS	C0021171
MeSH	D007184
SNOMED-CT	SNOMEDCT_US_2016_09_01:367520004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0004943 \| behcet disease \| 1 C0003076 \| aniridia \| 1 C0004096 \| asthma \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0022116 \| ischemia \| 1 C0034212 \| pyoderma \| 1 C0007137 \| squamous cell carcinomas \| 1 C0042384 \| vasculitis \| 1 C0159020 \| neonatal seizures \| 1 C0002726 \| amyloidosis \| 1 C0268397 \| cutaneous amyloidosis \| 1 C0007137 \| squamous cell carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) IKBKG \| 8517 \| CLINVAR;CTD_human;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:9) 3861 \| KRT14 \| DISEASES 7203 \| CCT3 \| DISEASES 1294 \| COL7A1 \| DISEASES 1308 \| COL17A1 \| DISEASES 4763 \| NF1 \| DISEASES 1756 \| DMD \| DISEASES 8517 \| IKBKG \| DISEASES 2010 \| EMD \| DISEASES 7555 \| CNBP \| DISEASES
Locus	(Waiting for update.)

Disease ID	624
Disease	bloch-siemens syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0002633 \| Vasculitis \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0012309 \| Cutaneous amyloidosis \| 1 HP:0002099 \| Asthma \| 1 HP:0000526 \| Absent iris \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0000999 \| Pyoderma \| 1 HP:0001250 \| Seizures \| 1

Disease ID	624
Disease	bloch-siemens syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0037284 \| skin lesions \| 2 C0038454 \| cerebrovascular accidents \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853321	NA	8517	IKBKG	umls:C0021171	CLINVAR	NA	0.389646753	NA	IKBKG	X	154564460	A	G
rs137853322	NA	8517	IKBKG	umls:C0021171	CLINVAR	NA	0.389646753	NA	IKBKG	X	154564420	A	G
rs137853323	NA	8517	IKBKG	umls:C0021171	CLINVAR	NA	0.389646753	NA	IKBKG	X	154552186	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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