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	agenesis of corpus callosum

Disease ID	1585
Disease	agenesis of corpus callosum
Definition	Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Synonym	absence of corpus callosum absence of the corpus callosum absent corpus callosum acc - agenesis of corpus callosum ageneses, corpus callosum agenesis callosum corpus agenesis corpus callosum agenesis of corpus callosum (disorder) agenesis of corpus callosum [disease/finding] agenesis of the corpus callosum agenesis, corpus callosum callosal agenesis congenital absence of corpus callosum corpus callosum absence corpus callosum absences corpus callosum ageneses corpus callosum agenesis corpus callosum dysgeneses corpus callosum dysgenesis corpus callosum hypogeneses corpus callosum hypogenesis corpus callosum, agenesis corpus callosum, agenesis of dysgeneses, corpus callosum dysgenesis, corpus callosum dysplastic or absent corpus callosum hypogeneses, corpus callosum hypogenesis of corpus callosum hypogenesis, corpus callosum
OMIM	OMIM:217990
UMLS	C0175754
MeSH	D061085
SNOMED-CT	SNOMEDCT_US_2016_09_01:5102002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:28) C0442874 \| neuropathy \| 8 C0151313 \| sensory neuropathy \| 6 C0020255 \| hydrocephalus \| 4 C0023798 \| lipoma \| 4 C0031117 \| peripheral neuropathy \| 3 C0025958 \| microcephaly \| 2 C0078981 \| arachnoid cyst \| 2 C0036341 \| schizophrenia \| 2 C0266463 \| lissencephaly \| 2 C0025362 \| mental retardation \| 2 C0015458 \| parry-romberg syndrome \| 1 C0004936 \| mental disorders \| 1 C0751651 \| mitochondrial disorders \| 1 C0751651 \| mitochondrial disorder \| 1 C0010964 \| dandy-walker malformation \| 1 C0010674 \| cystic fibrosis \| 1 C0080178 \| spina bifida \| 1 C0038220 \| status epilepticus \| 1 C0004779 \| nevoid basal cell carcinoma syndrome \| 1 C0078981 \| arachnoid cysts \| 1 C0175713 \| aicardi syndrome \| 1 C0086543 \| cataracts \| 1 C0497327 \| dementia \| 1 C0015974 \| periodic fever \| 1 C0007117 \| basal cell carcinoma \| 1 C0035934 \| rubinstein-taybi syndrome \| 1 C0007789 \| cerebral palsy \| 1 C0020295 \| hydronephrosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 55755 \| CDK5RAP2 \| CLINVAR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 9990 \| SLC12A6 \| CIPHER
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1585
Disease	agenesis of corpus callosum
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:61) HP:0001338 \| Partial agenesis of the corpus callosum \| 29 HP:0002282 \| Heterotopias \| 8 HP:0002119 \| Ventricular dilatation \| 6 HP:0000763 \| Sensory neuropathy \| 6 HP:0000238 \| Nonsyndromal hydrocephalus \| 6 HP:0000252 \| Small head circumference \| 5 HP:0001249 \| Mental retardation \| 4 HP:0012032 \| Lipoma \| 4 HP:0002045 \| Abnormally low body temperature \| 4 HP:0030048 \| Colpocephaly \| 4 HP:0009830 \| Peripheral neuritis \| 3 HP:0001360 \| Single brain ventricle \| 3 HP:0000347 \| Hypoplasia of mandible \| 3 HP:0000316 \| Increased distance between eye sockets \| 2 HP:0001339 \| Lissencephaly \| 2 HP:0002126 \| Polymicrogyria \| 2 HP:0002059 \| Degeneration of cerebrum \| 2 HP:0100702 \| Arachnoid cyst \| 2 HP:0100753 \| Schizophrenia \| 2 HP:0001945 \| Fever \| 2 HP:0001250 \| Seizures \| 1 HP:0000054 \| Short penis \| 1 HP:0002539 \| Cortical dysplasia \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0001601 \| Laryngomalacia \| 1 HP:0000975 \| Increased sweating \| 1 HP:0002533 \| Abnormal posturing \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1 HP:0005484 \| Acquired microcephaly \| 1 HP:0045005 \| Neural tube defect \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0009879 \| Simplified gyral pattern \| 1 HP:0002120 \| Cerebral cortical atrophy \| 1 HP:0002323 \| Anencephaly \| 1 HP:0007033 \| Cerebellar dysplasia \| 1 HP:0000518 \| Cataract \| 1 HP:0000062 \| Ambiguous external genitalia \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0002448 \| Progressive encephalopathy \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0001491 \| Congenital fibrosis of the extraocular muscles \| 1 HP:0030731 \| Carcinoma \| 1 HP:0001302 \| Cerebral pachygyria \| 1 HP:0002536 \| Abnormal cortical gyration \| 1 HP:0001335 \| Bimanual synkinesia \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0002414 \| Spina bifida \| 1 HP:0000528 \| Absence of eyeballs \| 1 HP:0002013 \| Emesis \| 1 HP:0002671 \| Basalioma \| 1 HP:0007206 \| Hemimegalencephaly \| 1 HP:0001022 \| Achromasia \| 1 HP:0001256 \| Mild mental retardation \| 1 HP:0001252 \| Hypotonia \| 1 HP:0000717 \| Autism \| 1 HP:0000126 \| Hydronephrosis \| 1 HP:0000726 \| Dementia \| 1 HP:0001298 \| Encephalopathy \| 1

Disease ID	1585
Disease	agenesis of corpus callosum
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912664	11481490	7157	TP53	umls:C0175754	BeFree	Therefore, this inherited R337H p53 mutation represents a low-penetrance p53 allele that contributes in a tissue-specific manner to the development of pediatric ACC.	0.007328931	2001	TP53	17	7670699	C	T,G,A
rs121912664	24122735	7157	TP53	umls:C0175754	BeFree	TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus carcinoma.	0.007328931	2013	TP53	17	7670699	C	T,G,A
rs121912664	11753428	7157	TP53	umls:C0175754	BeFree	These results demonstrate a pH-sensitive molecular defect of p53 (R337H), suggesting that pH-dependent p53 dysfunction is the molecular basis for these cases of ACC in Brazilian children.	0.007328931	2002	TP53	17	7670699	C	T,G,A
rs121913407	21733995	1499	CTNNB1	umls:C0175754	BeFree	In addition, the ACC and H295R cells with AXIN2 deletion (c.2013_2024del12) harbored p.Ser45del and p.Ser45Pro CTNNB1 mutations, respectively.	0.002442977	2011	CTNNB1	3	41224645	T	C,G
rs121913407	21733995	8313	AXIN2	umls:C0175754	BeFree	In addition, the ACC and H295R cells with AXIN2 deletion (c.2013_2024del12) harbored p.Ser45del and p.Ser45Pro CTNNB1 mutations, respectively.	0.000271442	2011	CTNNB1	3	41224645	T	C,G
rs387907252	22095910	11023	VAX1	umls:C0175754	BeFree	In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves, cleft lip/palate, and corpus callosum agenesis.	0.000271442	2012	VAX1	10	117134559	G	T
rs752092703	NA	55755	CDK5RAP2	umls:C0175754	CLINVAR	NA	0.12	NA	CDK5RAP2	9	120550818	C	G
rs772072816	NA	55755	CDK5RAP2	umls:C0175754	CLINVAR	NA	0.12	NA	CDK5RAP2	9	120439426	T	C

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.)

Disease ID	1585
Disease	agenesis of corpus callosum
Case	(Waiting for update.)

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