TD
MCID: THN004
MIFTS: 60

Thanatophoric Dysplasia Type 1 (TD) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Thanatophoric Dysplasia Type 1

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MalaCards based summary: Thanatophoric Dysplasia Type 1, also known as thanatophoric dysplasia type i, is related to thanatophoric dysplasia and hypochondroplasia, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, flat face and depressed nasal bridge. An important gene associated with Thanatophoric Dysplasia Type 1 is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are p70S6K Signaling and Signaling by FGFR. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotype hearing/vestibular/ear.

Descriptions from OMIM:46 156830,187600,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 1

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Thanatophoric Dysplasia Type 1, Aliases & Descriptions:

Name: Thanatophoric Dysplasia Type 1 42 48
Thanatophoric Dysplasia Type I 42 20 22
Thanatophoric Dysplasia 48 46 62
Thanatophoric Dysplasia, Type I 46 62
Thanatophoric Dwarfism 48 62
Saddan 48 62
 
Td1 48 62
Severe Achondroplasia - Developmental Delay - Acanthosis Nigricans 48
Thanatophoric Dwarfism Type 1 48
Thanatophoric Dwarfism 1 42
Td 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
thanatophoric dysplasia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5
thanatophoric dysplasia type 1:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5
saddan:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

ICD10 via Orphanet26 Q77.1, Q77.4
UMLS via Orphanet63 C0039743, C2931282, C2674173

Related Diseases for Thanatophoric Dysplasia Type 1

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Diseases in the Thanatophoric Dysplasia Type 1 family:

Thanatophoric Dysplasia Thanatophoric Dysplasia Type 2

Diseases related to Thanatophoric Dysplasia Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia31.0FGFR2, FGFR3
2hypochondroplasia30.5FGFR2, FGFR3
3achondroplasia30.5FGFR2, FGFR3
4syndactyly30.4FGFR2, FGFR3
5crouzon syndrome30.2FGFR3, FGFR2
6acanthosis nigricans30.2FGFR2, FGFR3
7dwarfism30.2FGFR3, FGFR2
8bladder carcinoma30.0FGFR2, FGFR3
9thanatophoric dysplasia glasgow variant10.4
10beare-stevenson cutis gyrata syndrome10.4FGFR2
11encephalocele10.4
12achondrogenesis10.3
13thanatophoric dysplasia type 210.3
14platyspondylic lethal skeletal dysplasia torrance type10.3
15tardive dyskinesia10.3
16skeletal dysplasia, san diego type10.3
17skeletal dysplasias10.3
18renal dysplasia10.3
19cerebritis10.3
20megalencephaly10.3
21hypophosphatasia10.2
22atherosclerosis10.1
23holoprosencephaly10.1
24hydrocephalus10.1
25spinal cord injury10.1
26chorioangioma10.1
27osteogenesis imperfecta10.1
28choroiditis10.1
29saddan10.1
30agenesis of the corpus callosum10.1
31craniosynostosis 410.1
32semilobar holoprosencephaly10.1
33jackson-weiss syndrome10.1FGFR2, FGFR3
34fgfr-related craniosynostosis syndromes10.0FGFR3, FGFR2
35muenke syndrome10.0FGFR2, FGFR3
36ladd syndrome10.0FGFR3, FGFR2
37infectious mononucleosis10.0FGFR3, FGFR2
38strabismus10.0FGFR2, FGFR3
39acrocephalosyndactylia10.0FGFR2, FGFR3
40saethre-chotzen syndrome10.0FGFR3, FGFR2
41synostosis10.0FGFR3, FGFR2
42skeletal dysplasia multi-gene panels10.0FGFR2, FGFR3
43craniosynostosis10.0FGFR2, FGFR3
44developmental disabilities10.0FGFR3, FGFR2
45chondrosarcoma10.0FGFR3, FGFR2
46transitional cell carcinoma9.9FGFR2, FGFR3
47skin disease9.9FGFR3, FGFR2
48colorectal cancer9.9FGFR2, FGFR3
49retinoblastoma9.8FGFR2, FGFR3
50stomach cancer9.8FGFR2, FGFR3

Graphical network of the top 20 diseases related to Thanatophoric Dysplasia Type 1:



Diseases related to thanatophoric dysplasia type 1

Symptoms for Thanatophoric Dysplasia Type 1

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Symptoms by clinical synopsis from OMIM:

156830

Clinical features from OMIM:

156830,187600,187601

Symptoms:

48 (show all 53)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • flat face
  • depressed nasal bridge
  • narrow rib cage/thorax
  • short rib cage/thorax
  • platyspondyly
  • short limbs/micromelia/brachymelia
  • rhizomelic micromelia
  • loose skin/skin relaxation/excess skin/creases
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metaphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • stillbirth/neonatal death
  • increased nuchal translucency
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • hearing loss/hypoacusia/deafness
  • short hand/brachydactyly
  • dilated cerebral ventricles without hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • intrauterine growth retardation
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • low set ears/posteriorly rotated ears
  • kyphosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacroiliac joints anomalies
  • acanthosis nigricans
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • renal/kidney anomalies
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • polyhydramnios
  • small face
  • trident hand/split hand/abnormal median ray
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • hypotonia
  • bowed diaphysis/diaphyses/long bones
  • rippled skin
  • cloverleaf skull
  • anomalies of bones/skeletal anomalies
  • clavicle absent/abnormal
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly

HPO human phenotypes related to Thanatophoric Dysplasia Type 1:

(show all 105)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 malar flattening hallmark (90%) HP:0000272
3 small face hallmark (90%) HP:0000274
4 narrow chest hallmark (90%) HP:0000774
5 platyspondyly hallmark (90%) HP:0000926
6 abnormality of the metaphyses hallmark (90%) HP:0000944
7 cutis laxa hallmark (90%) HP:0000973
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 split hand hallmark (90%) HP:0001171
10 muscular hypotonia hallmark (90%) HP:0001252
11 respiratory insufficiency hallmark (90%) HP:0002093
12 skeletal dysplasia hallmark (90%) HP:0002652
13 abnormality of the femur hallmark (90%) HP:0002823
14 micromelia hallmark (90%) HP:0002983
15 short stature hallmark (90%) HP:0004322
16 depressed nasal bridge hallmark (90%) HP:0005280
17 bowing of the long bones hallmark (90%) HP:0006487
18 short thorax hallmark (90%) HP:0010306
19 cognitive impairment hallmark (90%) HP:0100543
20 abnormality of the sacroiliac joint hallmark (90%) HP:0100781
21 macrocephaly hallmark (90%) HP:0000256
22 malar flattening hallmark (90%) HP:0000272
23 narrow chest hallmark (90%) HP:0000774
24 platyspondyly hallmark (90%) HP:0000926
25 abnormality of the metaphyses hallmark (90%) HP:0000944
26 cutis laxa hallmark (90%) HP:0000973
27 skeletal dysplasia hallmark (90%) HP:0002652
28 micromelia hallmark (90%) HP:0002983
29 short stature hallmark (90%) HP:0004322
30 depressed nasal bridge hallmark (90%) HP:0005280
31 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
32 short thorax hallmark (90%) HP:0010306
33 increased nuchal translucency hallmark (90%) HP:0010880
34 cognitive impairment hallmark (90%) HP:0100543
35 seizures hallmark (90%) HP:0001250
36 cognitive impairment hallmark (90%) HP:0100543
37 hearing impairment typical (50%) HP:0000365
38 proptosis typical (50%) HP:0000520
39 polyhydramnios typical (50%) HP:0001561
40 frontal bossing typical (50%) HP:0002007
41 ventriculomegaly typical (50%) HP:0002119
42 kyphosis typical (50%) HP:0002808
43 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
44 increased nuchal translucency typical (50%) HP:0010880
45 malar flattening typical (50%) HP:0000272
46 hearing impairment typical (50%) HP:0000365
47 proptosis typical (50%) HP:0000520
48 brachydactyly syndrome typical (50%) HP:0001156
49 intrauterine growth retardation typical (50%) HP:0001511
50 frontal bossing typical (50%) HP:0002007
51 ventriculomegaly typical (50%) HP:0002119
52 abnormality of neuronal migration typical (50%) HP:0002269
53 abnormality of the clavicles typical (50%) HP:0000889
54 abnormality of the femur typical (50%) HP:0002823
55 abnormality of the fibula typical (50%) HP:0002991
56 abnormality of the tibia typical (50%) HP:0002992
57 abnormality of the kidney occasional (7.5%) HP:0000077
58 hydrocephalus occasional (7.5%) HP:0000238
59 acanthosis nigricans occasional (7.5%) HP:0000956
60 seizures occasional (7.5%) HP:0001250
61 limitation of joint mobility occasional (7.5%) HP:0001376
62 defect in the atrial septum occasional (7.5%) HP:0001631
63 patent ductus arteriosus occasional (7.5%) HP:0001643
64 abnormality of neuronal migration occasional (7.5%) HP:0002269
65 cloverleaf skull occasional (7.5%) HP:0002676
66 abnormality of the kidney occasional (7.5%) HP:0000077
67 hydrocephalus occasional (7.5%) HP:0000238
68 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
69 downslanted palpebral fissures occasional (7.5%) HP:0000494
70 acanthosis nigricans occasional (7.5%) HP:0000956
71 seizures occasional (7.5%) HP:0001250
72 limitation of joint mobility occasional (7.5%) HP:0001376
73 joint hypermobility occasional (7.5%) HP:0001382
74 polyhydramnios occasional (7.5%) HP:0001561
75 defect in the atrial septum occasional (7.5%) HP:0001631
76 patent ductus arteriosus occasional (7.5%) HP:0001643
77 respiratory insufficiency occasional (7.5%) HP:0002093
78 kyphosis occasional (7.5%) HP:0002808
79 abnormality of the sacroiliac joint occasional (7.5%) HP:0100781
80 cloverleaf skull HP:0002676
81 micromelia HP:0002983
82 autosomal dominant inheritance HP:0000006
83 hydrocephalus HP:0000238
84 macrocephaly HP:0000256
85 small face HP:0000274
86 short ribs HP:0000773
87 narrow chest HP:0000774
88 wide-cupped costochondral junctions HP:0000910
89 flared irregular metaphyses HP:0000945
90 hypoplastic ilia HP:0000946
91 muscular hypotonia HP:0001252
92 decreased fetal movement HP:0001558
93 polyhydramnios HP:0001561
94 frontal bossing HP:0002007
95 respiratory insufficiency HP:0002093
96 intellectual disability, profound HP:0002187
97 heterotopia HP:0002282
98 cloverleaf skull HP:0002676
99 small foramen magnum HP:0002677
100 short long bones HP:0003026
101 small sacroiliac notches HP:0003185
102 severe platyspondyly HP:0004565
103 bowing of the long bones HP:0006487
104 small abnormally formed scapulae HP:0006584
105 lethal short-limbed short stature HP:0008909

Drugs & Therapeutics for Thanatophoric Dysplasia Type 1

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Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia Type 1

Search NIH Clinical Center for Thanatophoric Dysplasia Type 1

Genetic Tests for Thanatophoric Dysplasia Type 1

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Genetic tests related to Thanatophoric Dysplasia Type 1:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type I20 FGFR3
2 Thanatophoric Dysplasia Type 122

Anatomical Context for Thanatophoric Dysplasia Type 1

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MalaCards organs/tissues related to Thanatophoric Dysplasia Type 1:

32
Skin, Bone, Lung, Kidney

Animal Models for Thanatophoric Dysplasia Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Thanatophoric Dysplasia Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FGFR3, FGFR2

Publications for Thanatophoric Dysplasia Type 1

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Articles related to Thanatophoric Dysplasia Type 1:

idTitleAuthorsYear
1
The &quot;old theme&quot; of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with (&quot;San Diego&quot; variant) and without ragged metaphyses due to the same FGFR3 mutation. (24038754)
2013
2
FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1. (19752524)
2009
3
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. (19340824)
2009
4
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? (17375526)
2006
5
Long-term survival in typical thanatophoric dysplasia type 1. (9182787)
1997
6
An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys) (9215781)
1997

Variations for Thanatophoric Dysplasia Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Thanatophoric Dysplasia Type 1:

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Ser249CysVAR_004149
3FGFR3p.Gly370CysVAR_004151
4FGFR3p.Ser371CysVAR_004152
5FGFR3p.Tyr373CysVAR_004153
6FGFR3p.Lys650MetVAR_004161

Clinvar genetic disease variations for Thanatophoric Dysplasia Type 1:

6 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1948A> G (p.Lys650Glu)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
2FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
3FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
4FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
6FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
7FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
8FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
9FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
10FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
11FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
12FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
13FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
14FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
15FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
16FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Thanatophoric Dysplasia Type 1

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Expression patterns in normal tissues for genes affiliated with Thanatophoric Dysplasia Type 1

Search GEO for disease gene expression data for Thanatophoric Dysplasia Type 1.

Pathways for genes affiliated with Thanatophoric Dysplasia Type 1

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Pathways related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

(show all 39)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR3, FGFR2
2
Show member pathways
9.1FGFR2, FGFR3
3
Show member pathways
9.1FGFR3, FGFR2
49.1FGFR3, FGFR2
5
Show member pathways
9.1FGFR2, FGFR3
6
Show member pathways
9.1FGFR3, FGFR2
7
Show member pathways
9.1FGFR2, FGFR3
89.1FGFR3, FGFR2
9
Show member pathways
9.1FGFR2, FGFR3
10
Show member pathways
9.1FGFR2, FGFR3
11
Show member pathways
9.1FGFR2, FGFR3
12
Show member pathways
9.1FGFR3, FGFR2
13
Show member pathways
9.1FGFR3, FGFR2
14
Show member pathways
9.1FGFR3, FGFR2
15
Show member pathways
9.1FGFR2, FGFR3
16
Show member pathways
9.1FGFR3, FGFR2
17
Show member pathways
9.1FGFR3, FGFR2
18
Show member pathways
9.1FGFR2, FGFR3
19
Show member pathways
9.1FGFR3, FGFR2
20
Show member pathways
MAPK signaling pathway37
9.1FGFR2, FGFR3
219.1FGFR3, FGFR2
229.1FGFR2, FGFR3
239.1FGFR3, FGFR2
249.1FGFR3, FGFR2
25
Show member pathways
9.1FGFR2, FGFR3
26
Show member pathways
9.1FGFR3, FGFR2
27
Show member pathways
9.1FGFR3, FGFR2
28
Show member pathways
9.1FGFR3, FGFR2
29
Show member pathways
9.1FGFR2, FGFR3
30
Show member pathways
9.1FGFR3, FGFR2
31
Show member pathways
9.1FGFR3, FGFR2
32
Show member pathways
9.1FGFR2, FGFR3
33
Show member pathways
9.1FGFR3, FGFR2
34
Show member pathways
9.1FGFR3, FGFR2
35
Show member pathways
9.1FGFR2, FGFR3
36
Show member pathways
9.1FGFR3, FGFR2
37
Show member pathways
Signaling Pathways in Glioblastoma37
9.1FGFR2, FGFR3
389.1FGFR3, FGFR2
399.1FGFR3, FGFR2

Compounds for genes affiliated with Thanatophoric Dysplasia Type 1

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Compounds related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1su 5402619.4FGFR3, FGFR2
2fiin 1 hydrochloride619.4FGFR3, FGFR2
3pd 161570619.4FGFR3, FGFR2
4su5402449.4FGFR3, FGFR2
5pd 17307444 6110.4FGFR2, FGFR3
6palifermin44 1110.4FGFR3, FGFR2
7ponatinib50 1110.4FGFR3, FGFR2
8thalidomide44 50 61 1112.3FGFR3, FGFR2
9sulfate44 2410.3FGFR2, FGFR3
10guanine44 24 1111.3FGFR3, FGFR2
11phenylalanine449.2FGFR3, FGFR2
12phosphotyrosine449.2FGFR3, FGFR2
13doxorubicin44 50 1111.1FGFR2, FGFR3
14oligonucleotide449.1FGFR3, FGFR2
15paraffin449.0FGFR3, FGFR2
16lysine448.8FGFR3, FGFR2

GO Terms for genes affiliated with Thanatophoric Dysplasia Type 1

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Cellular components related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1FGFR3, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.8FGFR3, FGFR2

Biological processes related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:0105189.5FGFR3, FGFR2
2lens fiber cell developmentGO:0703079.5FGFR3, FGFR2
3negative regulation of mitosisGO:0458399.5FGFR2, FGFR3
4bone morphogenesisGO:0603499.4FGFR3, FGFR2
5negative regulation of epithelial cell proliferationGO:0506809.4FGFR3, FGFR2
6positive regulation of canonical Wnt signaling pathwayGO:0902639.4FGFR2, FGFR3
7positive regulation of MAPK cascadeGO:0434109.4FGFR3, FGFR2
8peptidyl-tyrosine phosphorylationGO:0181089.4FGFR3, FGFR2
9positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR2, FGFR3
10phosphatidylinositol-mediated signalingGO:0480159.4FGFR3, FGFR2
11insulin receptor signaling pathwayGO:0082869.4FGFR2, FGFR3
12protein autophosphorylationGO:0467779.3FGFR3, FGFR2
13fibroblast growth factor receptor signaling pathwayGO:0085439.3FGFR3, FGFR2
14Fc-epsilon receptor signaling pathwayGO:0380959.3FGFR2, FGFR3
15epidermal growth factor receptor signaling pathwayGO:0071739.2FGFR3, FGFR2
16cell-cell signalingGO:0072679.2FGFR2, FGFR3
17neurotrophin TRK receptor signaling pathwayGO:0480119.1FGFR3, FGFR2
18innate immune responseGO:0450879.1FGFR3, FGFR2
19positive regulation of cell proliferationGO:0082849.0FGFR3, FGFR2
20negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR3, FGFR2

Molecular functions related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.1FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050079.0FGFR3, FGFR2
3fibroblast growth factor bindingGO:0171348.8FGFR3, FGFR2

Products for genes affiliated with Thanatophoric Dysplasia Type 1

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Sources for Thanatophoric Dysplasia Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet