TD
MCID: THN004
MIFTS: 45

Thanatophoric Dysplasia Type 1 (TD) malady

Bone, Skin, Fetal categories

Summaries for Thanatophoric Dysplasia Type 1

Sources:
47OMIM, 33MalaCards
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MalaCards: Thanatophoric Dysplasia Type 1, also known as thanatophoric dysplasia type i, is related to achondroplasia and thanatophoric dysplasia, 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 Regulation of Actin Cytoskeleton and MAPK signaling pathway. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder.

Description from OMIM:47 187600,156830,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 1

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Skin


Characteristics (Orphanet epidemiological data):

49
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
severe achondroplasia - developmental delay - acanthosis nigricans:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

thanatophoric dysplasia type 1 43 49
thanatophoric dysplasia type i 43 20 22
thanatophoric dysplasia, type i 47 61
severe achondroplasia with developmental delay and acanthosis nigricans 61
severe achondroplasia - developmental delay - acanthosis nigricans 49
thanatophoric dwarfism type 1 49
thanatophoric dwarfism 1 43
thanatophoric dysplasia 49
thanatophoric dwarfism 49
saddan 49
td1 49
td 49


External Ids:

ICD10 via Orphanet26 Q77.1, Q77.4

Related Diseases for Thanatophoric Dysplasia Type 1

Sources:
17GeneCards, 18GeneDecks
See all sources

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 top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.0FGFR3, FGFR2
2thanatophoric dysplasia30.9FGFR3, FGFR2
3hypochondroplasia30.7FGFR3, FGFR2
4skeletal dysplasias30.3FGFR3, FGFR2
5crouzon syndrome30.1FGFR3, FGFR2
6acanthosis nigricans30.1FGFR3, FGFR2
7syndactyly30.1FGFR2, FGFR3
8dwarfism30.1FGFR3, FGFR2
9bladder carcinoma30.1FGFR3, FGFR2
10thanatophoric dysplasia type 210.7
11saddan10.7
12diphtheria10.4
13tetanus10.4
14encephalocele10.3
15thanatophoric dysplasia glasgow variant10.3
16achondrogenesis10.3
17renal dysplasia, cystic10.2
18renal dysplasia10.2
19bilateral renal dysplasia10.2
20osteogenesis imperfecta10.2
21platyspondylic lethal skeletal dysplasia torrance type10.2
22megalencephaly10.2
23mitochondrial disorders10.2
24hypophosphatasia10.1
25hepatitis d10.1
26colorectal cancer10.1
27chorioangioma10.1
28gilles de la tourette syndrome10.1
29spinal stenosis10.1
30fetal alcohol syndrome10.1
31holoprosencephaly10.1
32atherosclerosis10.1
33osteogenesis imperfecta type i10.1
34corpus callosum agenesis10.1
35tardive dyskinesia10.1
36spinal cord injury10.1
37craniosynostosis 410.1
38semilobar holoprosencephaly10.1
39beare-stevenson cutis gyrata syndrome10.0FGFR2
40endometrial carcinoma10.0FGFR2
41fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3
42jackson-weiss syndrome10.0FGFR2, FGFR3
43muenke syndrome10.0FGFR2, FGFR3
44ladd syndrome10.0FGFR2, FGFR3
45acrocephalosyndactylia10.0FGFR3, FGFR2
46infectious mononucleosis10.0FGFR3, FGFR2
47saethre-chotzen syndrome10.0FGFR2, FGFR3
48synostosis10.0FGFR2, FGFR3
49strabismus10.0FGFR2, FGFR3
50developmental disabilities10.0FGFR2, FGFR3

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



Diseases related to thanatophoric dysplasia type 1

Clinical Features for Thanatophoric Dysplasia Type 1

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

187600,156830,187601

Clinical synopsis from OMIM:

187600

Symptoms:

49 (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

Drugs & Therapeutics for Thanatophoric Dysplasia Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Thanatophoric Dysplasia Type 1

Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia Type 1

Search NIH Clinical Center for Thanatophoric Dysplasia Type 1

Search CenterWatch for Thanatophoric Dysplasia Type 1

Genetic Tests for Thanatophoric Dysplasia Type 1

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Thanatophoric Dysplasia Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Thanatophoric Dysplasia Type 1

Genetic Variations for Thanatophoric Dysplasia Type 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Thanatophoric Dysplasia Type 1:

63
id Symbol AA change Variation SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Ser249CysVAR_004149
3FGFR3p.Gly370CysVAR_004151
4FGFR3p.Ser371CysVAR_004152
5FGFR3p.Tyr373CysVAR_004153
6FGFR3p.Lys650MetVAR_004161

Expression for genes affiliated with Thanatophoric Dysplasia Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 54Reactome, 53R&D Systems, 4Cell Signaling Technology, 50PharmGKB, 60Tocris Bioscience, 12EMD Millipore
See all sources

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

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1FGFR3, FGFR2
2
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9.1FGFR2, FGFR3
3
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9.1FGFR3, FGFR2
4
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9.1FGFR2, FGFR3
59.1FGFR3, FGFR2
6
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9.1FGFR3, FGFR2
7
Hide members
9.1FGFR3, FGFR2
8
Hide members
9.1FGFR3, FGFR2
9
Hide members
9.1FGFR3, FGFR2
10
Hide members
9.1FGFR3, FGFR2
11
Hide members
9.1FGFR3, FGFR2
129.1FGFR2, FGFR3
139.1FGFR3, FGFR2
14
Hide members
9.1FGFR3, FGFR2
15
Hide members
9.1FGFR2, FGFR3
169.1FGFR3, FGFR2
179.1FGFR3, FGFR2
189.1FGFR3, FGFR2
19
Hide members
9.1FGFR2, FGFR3
20
Hide members
9.1FGFR3, FGFR2
21
Hide members
9.1FGFR3, FGFR2
229.1FGFR2, FGFR3
23
Hide members
9.1FGFR3, FGFR2
24
Hide members
9.1FGFR3, FGFR2
25
Hide members
9.1FGFR3, FGFR2
26
Hide members
9.1FGFR2, FGFR3
27
Development FGF-family signaling
Hide members
9.1FGFR3, FGFR2
289.1FGFR3, FGFR2
299.1FGFR3, FGFR2

Compounds for genes affiliated with Thanatophoric Dysplasia Type 1

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
See all sources

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1su 5402609.4FGFR3, FGFR2
2fiin 1 hydrochloride609.4FGFR3, FGFR2
3pd 161570609.4FGFR3, FGFR2
4su5402459.4FGFR2, FGFR3
5pd 17307445 6010.4FGFR3, FGFR2
6palifermin45 1110.4FGFR3, FGFR2
7Ponatinib 119.3FGFR3, FGFR2
8thalidomide45 50 60 1112.3FGFR2, FGFR3
9sulfate45 2410.3FGFR3, FGFR2
10guanine45 11 2411.2FGFR3, FGFR2
11phenylalanine459.2FGFR3, FGFR2
12phosphotyrosine459.1FGFR2, FGFR3
13lysine459.1FGFR3, FGFR2
14doxorubicin45 50 1111.0FGFR3, FGFR2
15paraffin458.8FGFR3, FGFR2

GO Terms for genes affiliated with Thanatophoric Dysplasia Type 1

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.1FGFR3, FGFR2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:0105189.4FGFR3, FGFR2
2negative regulation of mitosisGO:0458399.4FGFR3, FGFR2
3lens fiber cell developmentGO:0703079.4FGFR3, FGFR2
4bone morphogenesisGO:0603499.4FGFR3, FGFR2
5positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.4FGFR2, FGFR3
6peptidyl-tyrosine phosphorylationGO:0181089.4FGFR3, FGFR2
7positive regulation of MAPK cascadeGO:0434109.4FGFR3, FGFR2
8positive regulation of ERK1 and ERK2 cascadeGO:0703749.3FGFR3, FGFR2
9phosphatidylinositol-mediated signalingGO:0480159.3FGFR2, FGFR3
10insulin receptor signaling pathwayGO:0082869.3FGFR3, FGFR2
11protein autophosphorylationGO:0467779.2FGFR3, FGFR2
12fibroblast growth factor receptor signaling pathwayGO:0085439.2FGFR3, FGFR2
13Fc-epsilon receptor signaling pathwayGO:0380959.1FGFR2, FGFR3
14positive regulation of cell proliferationGO:0082849.1FGFR3, FGFR2
15epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR3, FGFR2
16neurotrophin TRK receptor signaling pathwayGO:0480118.8FGFR3, 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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thanatophoric Dysplasia Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet