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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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Disease Browser
Parent Node: Thanatophoric Dysplasia (D013796)
..Starting node ..Thanatophoric Dysplasia, Type I (C566844)
Child Nodes:
Sister Nodes:
..Kozlowski Warren Fisher syndrome (C537614)
..Larsen like syndrome, lethal type (C537872)
..Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (C563627)
..Short limb dwarf lethal Colavita Kozlowski type (C537597)
..Skeletal dysplasia, San Diego type (C536670)
..Thanatophoric dysplasia Glasgow variant (C536506)
..Thanatophoric dysplasia, type 2 (C536508)
..Thanatophoric Dysplasia, Type I (C566844)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10961

Name:

Thanatophoric Dysplasia, Type I

Definition:

Alternative IDs:

OMIM:187600

ParentIDs:

MESH:D013796

TreeNumbers:

C05.116.099.343.110.500/C566844 |C05.116.099.708.017.500/C566844 |C05.660.585.984/C566844 |C16.131.621.585.984/C566844 |C16.320.240.500.500/C566844 |C16.614.890/C566844

Synonyms:

Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type |LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS, INCLUDED |Platyspondylic Lethal Skeletal Dysplasia, San Dieg

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease

Reference:

MedGen: C566844
MeSH: C566844
OMIM: 187600;

Genes: FGFR3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0006487	Bowing of the long bones
3	HP:0002676	Cloverleaf skull
4	HP:0001558	Decreased fetal movement
5	HP:0003015	Flared metaphysis
6	HP:0002007	Frontal bossing
7	HP:0001263	Global developmental delay
8	HP:0002282	Gray matter heterotopia
9	HP:0000238	Hydrocephalus
10	HP:0000946	Hypoplastic ilia
11	HP:0001252	Hypotonia
12	HP:0002187	Intellectual disability, profound
13	HP:0008909	Lethal short-limbed short stature
14	HP:0000256	Macrocephaly
15	HP:0003025	Metaphyseal irregularity
16	HP:0000774	Narrow chest
17	HP:0003811	Neonatal death
18	HP:0001561	Polyhydramnios
19	HP:0002093	Respiratory insufficiency
20	HP:0004565	Severe platyspondyly
21	HP:0003510	Severe short stature
22	HP:0003185	Short greater sciatic notch
23	HP:0003026	Short long bone
24	HP:0000773	Short ribs
25	HP:0006584	Small abnormally formed scapulae
26	HP:0000274	Small face
27	HP:0002677	Small foramen magnum
28	HP:0000910	Wide-cupped costochondral junctions

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_000142.4(FGFR3):c.742C>T (p.Arg248Cys)	2261	FGFR3	Pathogenic	121913482	RCV000017734; RCV000017731; RCV000017733; RCV000017735; RCV000017732;	N	MedGen:C0022603,OMIM:182000; MedGen:C0026764,OMIM:254500,ORPHA:29073,SNOMED CT:109989006,SNOMED CT:55921005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C1851152; MedGen:C1868678,OMIM:187600	4	1803564	1803564	NM_000142.4:c.742C>T	NP_000133.1:p.Arg248Cys	NC_000004.11:g.1803564C>T	OMIM Allelic Variant:134934.0005	C0334082 162900 Epidermal nevus; C0022603 182000 Keratosis, seborrheic; C1838979 252010 Mitochondrial complex I deficiency; C0026764 254500 Multiple myeloma; C1851152 Skeletal dysplasia with acanthosis nigricans; C1868678 187600 Thanatophoric dysplasia
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys)	2261	FGFR3	Pathogenic	121913483	RCV000017742; RCV000017744; RCV000017745; RCV000017743;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0022603,OMIM:182000; MedGen:C0302592,OMIM:603956,SNOMED CT:285432005; MedGen:C1868678,OMIM:187600	4	1803568	1803568	NM_000142.4:c.746C>G	NP_000133.1:p.Ser249Cys	NC_000004.11:g.1803568C>G	OMIM Allelic Variant:134934.0013	C0302592 603956 Carcinoma of cervix; C0022603 182000 Keratosis, seborrheic; C0005684 109800 Malignant tumor of urinary bladder; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys)	2261	FGFR3	Pathogenic	121913479	RCV000029208; RCV000017770;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C1868678,OMIM:187600	4	1806089	1806089	NM_000142.4:c.1108G>T	NP_000133.1:p.Gly370Cys	NC_000004.11:g.1806089G>T	OMIM Allelic Variant:134934.0033	C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys)	2261	FGFR3	Pathogenic	121913484	RCV000017736;	N	MedGen:C1868678,OMIM:187600	4	1806092	1806092	NM_000142.4:c.1111A>T	NP_000133.1:p.Ser371Cys	NC_000004.11:g.1806092A>T	OMIM Allelic Variant:134934.0006	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys)	2261	FGFR3	Pathogenic	121913485	RCV000017751;	N	MedGen:C1868678,OMIM:187600	4	1806099	1806099	NM_000142.4:c.1118A>G	NP_000133.1:p.Tyr373Cys	NC_000004.11:g.1806099A>G	OMIM Allelic Variant:134934.0016	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1454A>G (p.Gln485Arg)	2261	FGFR3	Pathogenic	267606808	RCV000017771;	N	MedGen:C1868678,OMIM:187600	4	1807123	1807123	NM_000142.4:c.1454A>G	NP_000133.1:p.Gln485Arg	NC_000004.11:g.1807123A>G	OMIM Allelic Variant:134934.0034	C0410529 146000 Hypochondroplasia; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys)	2261	FGFR3	Pathogenic	28933068	RCV000017740; RCV000017771;	Y	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002; MedGen:C1868678,OMIM:187600	4	1807371	1807371	NM_000142.4:c.1620C>A	NP_000133.1:p.Asn540Lys	NC_000004.11:g.1807371C>A,NC_000004.11:g.1807371C>G	OMIM Allelic Variant:134934.0010,OMIM Allelic Variant:134934.0034	C0410529 146000 Hypochondroplasia; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys)	2261	FGFR3	Pathogenic	28933068	RCV000017740; RCV000017771;	Y	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002; MedGen:C1868678,OMIM:187600	4	1807371	1807371	NM_000142.4:c.1620C>A	NP_000133.1:p.Asn540Lys	NC_000004.11:g.1807371C>A,NC_000004.11:g.1807371C>G	OMIM Allelic Variant:134934.0010,OMIM Allelic Variant:134934.0034	C0410529 146000 Hypochondroplasia; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1949A>T (p.Lys650Met)	2261	FGFR3	Pathogenic	121913105	RCV000017750; RCV000017749;	Y	; MedGen:C1868678,OMIM:187600	4	1807890	1807890	NM_000142.4:c.1949A>T	NP_000133.1:p.Lys650Met	NC_000004.11:g.1807890A>C,NC_000004.11:g.1807890A>T	OMIM Allelic Variant:134934.0015	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly)	2261	FGFR3	Pathogenic	121913101	RCV000017737;	N	MedGen:C1868678,OMIM:187600	4	1808987	1808987	NM_000142.4:c.2419T>G	NP_000133.1:p.Ter807Gly	NC_000004.11:g.1808987T>A,NC_000004.11:g.1808987T>C,NC_000004.11:g.1808987T>G	OMIM Allelic Variant:134934.0007	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.2419T>A (p.Ter807Arg)	2261	FGFR3	Pathogenic	121913101	RCV000017738;	N	MedGen:C1868678,OMIM:187600	4	1808987	1808987	NM_000142.4:c.2419T>A	NP_000133.1:p.Ter807Arg	NC_000004.11:g.1808987T>A,NC_000004.11:g.1808987T>C,NC_000004.11:g.1808987T>G	OMIM Allelic Variant:134934.0008	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.2419T>C (p.Ter807Arg)	2261	FGFR3	Pathogenic	121913101	RCV000055763;	N	MedGen:C1868678,OMIM:187600	4	1808987	1808987	NM_000142.4:c.2419T>C	NP_000133.1:p.Ter807Arg	NC_000004.11:g.1808987T>A,NC_000004.11:g.1808987T>C,NC_000004.11:g.1808987T>G	-	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu)	2261	FGFR3	Pathogenic	397515514	RCV000055764;	N	MedGen:C1868678,OMIM:187600	4	1808988	1808988	NM_000142.4:c.2420G>T	NP_000133.1:p.Ter807Leu	NC_000004.11:g.1808988G>T	-	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.2421A>T (p.Ter807Cys)	2261	FGFR3	Pathogenic	121913103	RCV000017739;	N	MedGen:C1868678,OMIM:187600	4	1808989	1808989	NM_000142.4:c.2421A>T	NP_000133.1:p.Ter807Cys	NC_000004.11:g.1808989A>C,NC_000004.11:g.1808989A>G,NC_000004.11:g.1808989A>T	OMIM Allelic Variant:134934.0009	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.2421A>C (p.Ter807Cys)	2261	FGFR3	Pathogenic	121913103	RCV000055765;	N	MedGen:C1868678,OMIM:187600	4	1808989	1808989	NM_000142.4:c.2421A>C	NP_000133.1:p.Ter807Cys	NC_000004.11:g.1808989A>C,NC_000004.11:g.1808989A>G,NC_000004.11:g.1808989A>T	-	C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.2421A>G (p.Ter807Trp)	2261	FGFR3	Pathogenic	121913103	RCV000055766;	N	MedGen:C1868678,OMIM:187600	4	1808989	1808989	NM_000142.4:c.2421A>G	NP_000133.1:p.Ter807Trp	NC_000004.11:g.1808989A>C,NC_000004.11:g.1808989A>G,NC_000004.11:g.1808989A>T	-	C1868678 187600 Thanatophoric dysplasia type 1