PedAM

Pediatric Disease Annotations & Medicines


	kid syndrome

Disease ID	573
Disease	kid syndrome
Synonym	keratitis, ichthyosis, and deafness (kid) syndrome keratitis-ichthyosis-deafness syndrome, autosomal dominant keratosis-ichthyosis-deafness syndrome kid syndrome, autosomal dominant kids syndrome senter syndrome senter syndrome (disorder) syndrome kid
Orphanet	ORPHANET:477
OMIM	OMIM:148210
UMLS	C0265336
SNOMED-CT	SNOMEDCT_US_2016_09_01:2625009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0018784 \| sensorineural hearing loss \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) GJB6 \| 10804 \| ORPHANET GJB2 \| 2706 \| CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) GJB2 \| 13q12.11 GJB6 \| 13q12.11

Disease ID	573
Disease	kid syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:46) HP:0000407 \| Sensorineural hearing impairment HP:0012733 \| Macule HP:0000499 \| Abnormality of the eyelashes HP:0000221 \| Furrowed tongue HP:0002797 \| Osteolysis HP:0001315 \| Reduced tendon reflexes HP:0002745 \| Oral leukoplakia HP:0001804 \| Hypoplastic fingernail HP:0000164 \| Abnormality of the teeth HP:0200020 \| Corneal erosion HP:0001025 \| Urticaria HP:0000670 \| Carious teeth HP:0004374 \| Hemiplegia/hemiparesis HP:0001596 \| Alopecia HP:0008064 \| Ichthyosis HP:0004322 \| Short stature HP:0005595 \| Generalized hyperkeratosis HP:0008391 \| Dystrophic fingernails HP:0011344 \| Severe global developmental delay HP:0000684 \| Delayed eruption of teeth HP:0001810 \| Dystrophic toenail HP:0200042 \| Skin ulcer HP:0000365 \| Hearing impairment HP:0000157 \| Abnormality of the tongue HP:0005406 \| Recurrent bacterial skin infections HP:0002664 \| Neoplasm HP:0001072 \| Thickened skin HP:0000505 \| Visual impairment HP:0000982 \| Palmoplantar keratoderma HP:0100840 \| Aplasia/Hypoplasia of the eyebrow HP:0002251 \| Aganglionic megacolon HP:0002213 \| Fine hair HP:0000028 \| Cryptorchidism HP:0001369 \| Arthritis HP:0000491 \| Keratitis HP:0008070 \| Sparse hair HP:0011496 \| Corneal neovascularization HP:0001321 \| Cerebellar hypoplasia HP:0006739 \| Squamous cell carcinoma of the skin HP:0001800 \| Hypoplastic toenails HP:0001249 \| Intellectual disability HP:0000966 \| Hypohidrosis HP:0002750 \| Delayed skeletal maturation HP:0000613 \| Photophobia HP:0000529 \| Progressive visual loss HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0000365 \| Hearing impairment \| 1 HP:0000407 \| sensorineural hearing loss \| 1

Disease ID	573
Disease	kid syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C2364133 \| infection C1719933 \| skin condition C1561989 \| limbal stem cell deficiency C0917990 \| acroosteolysis C0581883 \| deafness C0018784 \| sensorineural hearing loss C0010964 \| dandy-walker malformation C0010034 \| corneal disease C0006846 \| cutaneous candidiasis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0011053 \| deafness \| 1 C0018784 \| sensorineural hearing loss \| 1 C0009450 \| infection \| 1

Manually Genotype(Total Text Mining 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
rs104894408	22011219	2706	GJB2	umls:C0265336	BeFree	This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules.	0.328414698	2012	GJB2	13	20189548	C	G,A
rs28929485	11912510	2706	GJB2	umls:C0265336	UNIPROT	Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.	0.328414698	2002	GJB2	13	20189532	G	C,A
rs28931594	23797419	2706	GJB2	umls:C0265336	BeFree	Collectively, these data provide insight into Cx26 structure-function and the underlying bases for the phenotypes associated with KID syndrome patients carrying the D50N mutation.	0.328414698	2014	GJB2	13	20189434	C	T,A
rs28931594	11912510	2706	GJB2	umls:C0265336	UNIPROT	Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.	0.328414698	2002	GJB2	13	20189434	C	T,A
rs28931594	19793313	2706	GJB2	umls:C0265336	BeFree	Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.	0.328414698	2009	GJB2	13	20189434	C	T,A
rs28931594	23924173	2706	GJB2	umls:C0265336	BeFree	Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.	0.328414698	2013	GJB2	13	20189434	C	T,A
rs72561723	23756814	2706	GJB2	umls:C0265336	BeFree	Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome.	0.328414698	2013	GJB2	13	20189448	C	T
rs72561723	18024254	2706	GJB2	umls:C0265336	BeFree	A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.	0.328414698	2008	GJB2	13	20189448	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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