TD
MCID: THN004
MIFTS: 57

Thanatophoric Dysplasia Type 1 (TD) malady

Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Thanatophoric Dysplasia Type 1

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46OMIM, 32MalaCards
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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 short rib cage/thorax, rhizomelic micromelia and rhizomelic micromelia. 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. Affiliated tissues include skin, bone and lung.

Description from OMIM:46 187600,156830,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 1

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Sources:
48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


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


Aliases & Descriptions:

thanatophoric dysplasia type 1 42 48
thanatophoric dysplasia type i 42 20 22
thanatophoric dysplasia, type i 46 60
severe achondroplasia with developmental delay and acanthosis nigricans 60
severe achondroplasia - developmental delay - acanthosis nigricans 48
thanatophoric dwarfism type 1 48
thanatophoric dwarfism 1 42
thanatophoric dysplasia 48
thanatophoric dwarfism 48
saddan 48
td1 48
td 48


External Ids:

ICD10 via Orphanet26 Q77.1, Q77.4
SNOMED-CT via Orphanet57 29352008

Related Diseases for Thanatophoric Dysplasia Type 1

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Sources:
17GeneCards, 18GeneDecks
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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 top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.0FGFR3, FGFR2
2thanatophoric dysplasia30.9FGFR2, FGFR3
3hypochondroplasia30.7FGFR3, FGFR2
4crouzon syndrome30.1FGFR3, FGFR2
5acanthosis nigricans30.1FGFR3, FGFR2
6syndactyly30.1FGFR3, FGFR2
7dwarfism30.1FGFR3, FGFR2
8bladder carcinoma30.1FGFR3, FGFR2
9thanatophoric dysplasia type 210.7
10saddan10.6
11diphtheria10.4
12tetanus10.4
13thanatophoric dysplasia glasgow variant10.3
14achondrogenesis10.3
15metaphyseal dysplasia10.2
16cerebritis10.2
17osteogenesis imperfecta10.2
18platyspondylic lethal skeletal dysplasia torrance type10.2
19mitochondrial disorders10.2
20hypophosphatasia10.1
21chorioangioma10.1
22gilles de la tourette syndrome10.1
23spinal stenosis10.1
24fetal alcohol syndrome10.1
25holoprosencephaly10.1
26atherosclerosis10.1
27tardive dyskinesia10.1
28craniosynostosis 410.1
29hepatitis10.1
30pertussis10.1
31schizophrenia10.1
32colorectal cancer10.1
33beare-stevenson cutis gyrata syndrome10.0FGFR2
34endometrial carcinoma10.0FGFR2
35fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3
36jackson-weiss syndrome10.0FGFR2, FGFR3
37muenke syndrome10.0FGFR3, FGFR2
38ladd syndrome10.0FGFR2, FGFR3
39acrocephalosyndactylia10.0FGFR2, FGFR3
40infectious mononucleosis10.0FGFR3, FGFR2
41saethre-chotzen syndrome10.0FGFR2, FGFR3
42skeletal dysplasias10.0FGFR3, FGFR2
43synostosis10.0FGFR2, FGFR3
44strabismus10.0FGFR3, FGFR2
45developmental disabilities10.0FGFR3, FGFR2
46craniosynostosis10.0FGFR3, FGFR2
47transitional cell carcinoma10.0FGFR3, FGFR2
48skin disease10.0FGFR3, FGFR2
49chondrosarcoma10.0FGFR2, FGFR3
50attention deficit hyperactivity disorder9.9

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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

187600,156830,187601

Clinical synopsis from OMIM:

187600

Symptoms:

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

Drugs & Therapeutics for Thanatophoric Dysplasia Type 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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20GeneTests, 22GTR
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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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32MalaCards
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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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Publications for Thanatophoric Dysplasia Type 1

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Genetic Variations for Thanatophoric Dysplasia Type 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Thanatophoric Dysplasia Type 1:

62
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

Expression for genes affiliated with Thanatophoric Dysplasia Type 1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 53Reactome, 52R&D Systems, 4Cell Signaling Technology, 49PharmGKB, 59Tocris Bioscience, 12EMD Millipore
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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
Hide members
9.1FGFR2, FGFR3
3
Hide members
9.1FGFR3, FGFR2
4
Hide members
9.1FGFR2, FGFR3
59.1FGFR3, FGFR2
6
Hide members
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

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1su 5402599.4FGFR3, FGFR2
2fiin 1 hydrochloride599.4FGFR3, FGFR2
3pd 161570599.4FGFR3, FGFR2
4su5402449.4FGFR2, FGFR3
5pd 17307444 5910.4FGFR3, FGFR2
6palifermin44 1110.4FGFR3, FGFR2
7Ponatinib 119.3FGFR3, FGFR2
8thalidomide44 49 59 1112.3FGFR2, FGFR3
9sulfate44 2410.3FGFR3, FGFR2
10guanine44 11 2411.2FGFR3, FGFR2
11phenylalanine449.2FGFR3, FGFR2
12phosphotyrosine449.1FGFR2, FGFR3
13lysine449.1FGFR3, FGFR2
14doxorubicin44 49 1111.0FGFR3, FGFR2
15paraffin448.8FGFR3, FGFR2

GO Terms for genes affiliated with Thanatophoric Dysplasia Type 1

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet