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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

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

Disease Browser
Parent Node: Hypothyroidism (D007037)
..Starting node ..Thyroid Dyshormonogenesis 3 (C562769)
Child Nodes:
Sister Nodes:
..Bamforth syndrome (C537901)
..Congenital Hypothyroidism (D003409) 17
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..Johanson Blizzard syndrome (C535880)
..Jung Wolff Back Stahl syndrome (C537694)
..Myxedema (D009230)
..Pituitary Hormone Deficiency, Combined, 1 (C567803)
..Pituitary Hormone Deficiency, Combined, 4 (C567492)
..Thyroid Dyshormonogenesis 3 (C562769)
..Thyroid Dyshormonogenesis 5 (C562771)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Thyrotropin-Releasing Hormone Resistance, Generalized (C566049)
..Zadik Barak Levin syndrome (C536721)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11058

Name:

Thyroid Dyshormonogenesis 3

Definition:

Alternative IDs:

OMIM:274700

ParentIDs:

MESH:D007037

TreeNumbers:

C19.874.482/C562769

Synonyms:

Hypothyroidism, Congenital, due to Dyshormonogenesis, 3 |TDH3 |Thyroid Hormonogenesis, Genetic Defect in, 3

Slim Mappings:

Endocrine system disease

Reference:

MedGen: C562769
MeSH: C562769
OMIM: 274700;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008223	Compensated hypothyroidism
3	HP:0000853	Goiter
4	HP:0012559	Increased T3/T4 ratio
5	HP:0001249	Intellectual disability
6	HP:0002890	Thyroid carcinoma

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_003235.4(TG):c.638+5G>A	7038	TG	Pathogenic	774274702	RCV000207481;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133885471	133885471	NM_003235.4:c.638+5G>A		NC_000008.10:g.133885471G>A	-	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.886C>T (p.Arg296Ter)	7038	TG	Pathogenic	121912648	RCV000013532;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133894854	133894854	NM_003235.4:c.886C>T	NP_003226.4:p.Arg296Ter	NC_000008.10:g.133894854C>T	OMIM Allelic Variant:188450.0007	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.2610G>T (p.Gln870His)	7038	TG	Uncertain significance	2229843	RCV000013527;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133900662	133900662	NM_003235.4:c.2610G>T	NP_003226.4:p.Gln870His	NC_000008.10:g.133900662G>T	OMIM Allelic Variant:188450.0002	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.3229T>C (p.Cys1077Arg)	7038	TG	Pathogenic	137854433	RCV000013539;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133911054	133911054	NM_003235.4:c.3229T>C	NP_003226.4:p.Cys1077Arg	NC_000008.10:g.133911054T>C	OMIM Allelic Variant:188450.0014	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.3733T>C (p.Cys1245Arg)	7038	TG	Pathogenic	121912647	RCV000013530;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133919031	133919031	NM_003235.4:c.3733T>C	NP_003226.4:p.Cys1245Arg	NC_000008.10:g.133919031T>C	OMIM Allelic Variant:188450.0005	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.4588C>T (p.Arg1530Ter)	7038	TG	Pathogenic	121912646	RCV000013528;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133935642	133935642	NM_003235.4:c.4588C>T	NP_003226.4:p.Arg1530Ter	NC_000008.10:g.133935642C>T	OMIM Allelic Variant:188450.0003	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.5184C>A (p.Cys1728Ter)	7038	TG	Pathogenic	199599591	RCV000190631;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133953738	133953738	NM_003235.4:c.5184C>A	NP_003226.4:p.Cys1728Ter	NC_000008.10:g.133953738C>A	-	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.5690G>A (p.Cys1897Tyr)	7038	TG	Pathogenic	121912649	RCV000013541;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133980042	133980042	NM_003235.4:c.5690G>A	NP_003226.4:p.Cys1897Tyr	NC_000008.10:g.133980042G>A	OMIM Allelic Variant:188450.0016	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.5986T>A (p.Cys1996Ser)	7038	TG	Pathogenic	2076739	RCV000013531;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	133984049	133984049	NM_003235.4:c.5986T>A	NP_003226.4:p.Cys1996Ser	NC_000008.10:g.133984049T>A	OMIM Allelic Variant:188450.0006	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.6725G>A (p.Arg2242His)	7038	TG	Pathogenic	2069566	RCV000013537;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	134030185	134030185	NM_003235.4:c.6725G>A	NP_003226.4:p.Arg2242His	NC_000008.10:g.134030185G>A	OMIM Allelic Variant:188450.0012	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.7007G>A (p.Arg2336Gln)	7038	TG	Pathogenic	121912650	RCV000013542;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	134034366	134034366	NM_003235.4:c.7007G>A	NP_003226.4:p.Arg2336Gln	NC_000008.10:g.134034366G>A	OMIM Allelic Variant:188450.0017	C0342194 274700 Iodotyrosyl coupling defect
NM_003235.4(TG):c.7123G>A (p.Gly2375Arg)	7038	TG	Pathogenic	137854434	RCV000013540;	N	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	8	134042152	134042152	NM_003235.4:c.7123G>A	NP_003226.4:p.Gly2375Arg	NC_000008.10:g.134042152G>A	OMIM Allelic Variant:188450.0015	C0342194 274700 Iodotyrosyl coupling defect