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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Deafness (D003638)
Parent Node: Ichthyosis (D007057)
Parent Node: Keratitis (D007634)
..Starting node ..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
Child Nodes:
Sister Nodes:
..Acanthamoeba Keratitis (D015823)
..Corneal Ulcer (D003320) 1
..Dermatoosteolysis Kirghizian type (C535373)
..Keratitis Fugax Hereditaria (C563650)
..Keratitis, hereditary (C537022)
..Keratitis, Herpetic (D016849) 1
..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..Keratitis-Ichthyosis-Deafness Syndrome (C580224)
..Keratoconjunctivitis (D007637) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6046

Name:

Keratitis, Ichthyosis, and Deafness (KID) Syndrome

Definition:

Alternative IDs:

OMIM:148210

ParentIDs:

MESH:D003638|MESH:D007057|MESH:D007634

TreeNumbers:

C09.218.458.341.186/C536168 |C10.597.751.418.341.186/C536168 |C11.204.564/C536168 |C16.131.831.512/C536168 |C16.614.492/C536168 |C17.800.428.333/C536168 |C17.800.804.512/C536168 |C23.888.592.763.393.341.186/C536168

Synonyms:

Keratitis-ichthyosis-deafness syndrome, autosomal dominant |KID syndrome |Kid Syndrome, Autosomal Dominant

Slim Mappings:

Reference:

MedGen: C536168
MeSH: C536168
OMIM: 148210;

Genes: GJB2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011492	Abnormality of corneal stroma
3	HP:0000618	Blindness
4	HP:0000559	Corneal scarring
5	HP:0012804	Corneal ulceration
6	HP:0002987	Elbow flexion contracture
7	HP:0000221	Furrowed tongue
8	HP:0000962	Hyperkeratosis
9	HP:0000966	Hypohidrosis
10	HP:0008064	Ichthyosis
11	HP:0001097	Keratoconjunctivitis sicca
12	HP:0006380	Knee flexion contracture
13	HP:0002164	Nail dysplasia
14	HP:0008404	Nail dystrophy
15	HP:0002745	Oral leukoplakia
16	HP:0001761	Pes cavus
17	HP:0000613	Photophobia
18	HP:0005406	Recurrent bacterial skin infections
19	HP:0000495	Recurrent corneal erosions
20	HP:0000407	Sensorineural hearing impairment
21	HP:0000535	Sparse and thin eyebrow
22	HP:0000653	Sparse eyelashes
23	HP:0002860	Squamous cell carcinoma
24	HP:0001128	Trichiasis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004004.5(GJB2):c.148G>A (p.Asp50Asn)	2706	GJB2	Pathogenic	28931594	RCV000175764; RCV000018546; RCV000018547;	N	MedGen:C1835678,OMIM:148210; MedGen:C1865234,OMIM:602540; MedGen:C2673759,OMIM:220290	13	20763573	20763573	NM_004004.5:c.148G>A	NP_003995.2:p.Asp50Asn	NC_000013.10:g.20763573C>A,NC_000013.10:g.20763573C>T	OMIM Allelic Variant:121011.0020	C2673759 220290 Deafness, autosomal recessive 1A; C1865234 602540 Hystrix-like ichthyosis with deafness; C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant
NM_004004.5(GJB2):c.148G>T (p.Asp50Tyr)	2706	GJB2	Pathogenic	28931594	RCV000018556;	N	MedGen:C1835678,OMIM:148210	13	20763573	20763573	NM_004004.5:c.148G>T	NP_003995.2:p.Asp50Tyr	NC_000013.10:g.20763573C>A,NC_000013.10:g.20763573C>T	OMIM Allelic Variant:121011.0027	C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant
NM_004004.5(GJB2):c.134G>A (p.Gly45Glu)	2706	GJB2	Likely pathogenic;Pathogenic	72561723	RCV000022510; RCV000018561;	N	MedGen:C1835678,OMIM:148210; MedGen:C2673759,OMIM:220290	13	20763587	20763587	NM_004004.5:c.134G>A	NP_003995.2:p.Gly45Glu	NC_000013.10:g.20763587C>T	OMIM Allelic Variant:121011.0033	C2673759 220290 Deafness, autosomal recessive 1A; C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant
NM_004004.5(GJB2):c.50C>T (p.Ser17Phe)	2706	GJB2	Pathogenic	28929485	RCV000018549;	N	MedGen:C1835678,OMIM:148210	13	20763671	20763671	NM_004004.5:c.50C>T	NP_003995.2:p.Ser17Phe	NC_000013.10:g.20763671G>A,NC_000013.10:g.20763671G>C	OMIM Allelic Variant:121011.0022	C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant
NM_004004.5(GJB2):c.34G>C (p.Gly12Arg)	2706	GJB2	Pathogenic	104894408	RCV000018548;	N	MedGen:C1835678,OMIM:148210	13	20763687	20763687	NM_004004.5:c.34G>C	NP_003995.2:p.Gly12Arg	NC_000013.10:g.20763687C>A,NC_000013.10:g.20763687C>G	OMIM Allelic Variant:121011.0021	C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant