TD2
MCID: THN002
MIFTS: 39

Thanatophoric Dysplasia Type 2 (TD2) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Skin diseases categories
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Summaries for Thanatophoric Dysplasia Type 2

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MalaCards based summary: Thanatophoric Dysplasia Type 2, also known as cloverleaf skull with thanatophoric dwarfism, is related to micromelic bone dysplasia with cloverleaf skull and thanatophoric dysplasia, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, cloverleaf skull and flat face. An important gene associated with Thanatophoric Dysplasia Type 2 is FGFR3 (fibroblast growth factor receptor 3). Affiliated tissues include bone, skin and lung.

Descriptions from OMIM:46 156830,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 2

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Sources:
65Wikipedia, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 20GeneTests, 22GTR, 26ICD10 via Orphanet
See all sources

Thanatophoric Dysplasia Type 2, Aliases & Descriptions:

Name: Thanatophoric Dysplasia Type 2 65 42 48 46
Cloverleaf Skull with Thanatophoric Dwarfism 65 42 62
Thanatophoric Dysplasia Type Ii 42 20 22
Thanatophoric Dysplasia with Kleeblattschaedel 42 62
Td2 42 48
Cloverleaf Skull - Micromelic Bone Dysplasia 48
 
Td with Straight Femurs and Cloverleaf Skull 65
Thanatophoric Dwarfism - Cloverleaf Skull 48
Thanatophoric Dysplasia, Type Ii 46
Thanatophoric Dysplasia, Type 2 62
Thanatophoric Dysplasia, Type I 62
Thanatophoric Dwarfism Type 2 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
thanatophoric dysplasia type 2:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

ICD10 via Orphanet26 Q77.1

Related Diseases for Thanatophoric Dysplasia Type 2

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Diseases in the Thanatophoric Dysplasia Type 1 family:

Thanatophoric Dysplasia thanatophoric dysplasia type 2

Diseases related to Thanatophoric Dysplasia Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1micromelic bone dysplasia with cloverleaf skull10.8
2thanatophoric dysplasia10.4
3holoprosencephaly10.3
4hydrocephalus10.3
5achondroplasia10.3
6choroiditis10.3
7dwarfism10.3
8skeletal dysplasias10.3
9semilobar holoprosencephaly10.3
10agenesis of the corpus callosum10.3
11encephalocele10.3
12thanatophoric dysplasia type 110.1

Graphical network of diseases related to Thanatophoric Dysplasia Type 2:



Diseases related to thanatophoric dysplasia type 2

Symptoms for Thanatophoric Dysplasia Type 2

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Symptoms by clinical synopsis from OMIM:

187601

Clinical features from OMIM:

156830,187601

Symptoms:

48 (show all 36)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • cloverleaf skull
  • flat face
  • depressed nasal bridge
  • narrow rib cage/thorax
  • short rib cage/thorax
  • platyspondyly
  • rhizomelic micromelia
  • short hand/brachydactyly
  • loose skin/skin relaxation/excess skin/creases
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypotonia
  • 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
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • hearing loss/hypoacusia/deafness
  • kyphosis
  • dilated cerebral ventricles without hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • increased nuchal translucency
  • polyhydramnios
  • acanthosis nigricans
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • renal/kidney anomalies
  • encephalocele/exencephaly
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • restricted joint mobility/joint stiffness/ankylosis

HPO human phenotypes related to Thanatophoric Dysplasia Type 2:

(show all 51)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 malar flattening hallmark (90%) HP:0000272
3 narrow chest hallmark (90%) HP:0000774
4 platyspondyly hallmark (90%) HP:0000926
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 cutis laxa hallmark (90%) HP:0000973
7 brachydactyly syndrome hallmark (90%) HP:0001156
8 muscular hypotonia hallmark (90%) HP:0001252
9 respiratory insufficiency hallmark (90%) HP:0002093
10 skeletal dysplasia hallmark (90%) HP:0002652
11 cloverleaf skull hallmark (90%) HP:0002676
12 short stature hallmark (90%) HP:0004322
13 depressed nasal bridge hallmark (90%) HP:0005280
14 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
15 limb undergrowth hallmark (90%) HP:0009826
16 short thorax hallmark (90%) HP:0010306
17 cognitive impairment hallmark (90%) HP:0100543
18 hearing impairment typical (50%) HP:0000365
19 proptosis typical (50%) HP:0000520
20 seizures typical (50%) HP:0001250
21 polyhydramnios typical (50%) HP:0001561
22 frontal bossing typical (50%) HP:0002007
23 ventriculomegaly typical (50%) HP:0002119
24 kyphosis typical (50%) HP:0002808
25 increased nuchal translucency typical (50%) HP:0010880
26 abnormality of the kidney occasional (7.5%) HP:0000077
27 hydrocephalus occasional (7.5%) HP:0000238
28 acanthosis nigricans occasional (7.5%) HP:0000956
29 holoprosencephaly occasional (7.5%) HP:0001360
30 limitation of joint mobility occasional (7.5%) HP:0001376
31 defect in the atrial septum occasional (7.5%) HP:0001631
32 patent ductus arteriosus occasional (7.5%) HP:0001643
33 encephalocele occasional (7.5%) HP:0002084
34 abnormality of neuronal migration occasional (7.5%) HP:0002269
35 autosomal dominant inheritance HP:0000006
36 small face HP:0000274
37 short ribs HP:0000773
38 narrow chest HP:0000774
39 wide-cupped costochondral junctions HP:0000910
40 platyspondyly HP:0000926
41 flared irregular metaphyses HP:0000945
42 hypoplastic ilia HP:0000946
43 brachydactyly syndrome HP:0001156
44 decreased fetal movement HP:0001558
45 polyhydramnios HP:0001561
46 respiratory insufficiency HP:0002093
47 cloverleaf skull HP:0002676
48 small foramen magnum HP:0002677
49 small sacroiliac notches HP:0003185
50 small abnormally formed scapulae HP:0006584
51 lethal short-limbed short stature HP:0008909

Drugs & Therapeutics for Thanatophoric Dysplasia Type 2

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Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia Type 2

Search NIH Clinical Center for Thanatophoric Dysplasia Type 2

Genetic Tests for Thanatophoric Dysplasia Type 2

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Genetic tests related to Thanatophoric Dysplasia Type 2:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type Ii20 FGFR3
2 Thanatophoric Dysplasia, Type 222

Anatomical Context for Thanatophoric Dysplasia Type 2

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MalaCards organs/tissues related to Thanatophoric Dysplasia Type 2:

32
Bone, Skin, Lung, Kidney

Animal Models for Thanatophoric Dysplasia Type 2 or affiliated genes

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Publications for Thanatophoric Dysplasia Type 2

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Articles related to Thanatophoric Dysplasia Type 2:

idTitleAuthorsYear
1
Thanatophoric dysplasia type 2 with encephalocele during the second trimester. (16752380)
2006
2
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. (12001196)
2002

Variations for Thanatophoric Dysplasia Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Thanatophoric Dysplasia Type 2:

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Lys650GluVAR_004160

Clinvar genetic disease variations for Thanatophoric Dysplasia Type 2:

6 (show all 14)
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.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
8FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
9FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
10FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
11FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
12FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
13FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
14FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Thanatophoric Dysplasia Type 2

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Expression patterns in normal tissues for genes affiliated with Thanatophoric Dysplasia Type 2

Search GEO for disease gene expression data for Thanatophoric Dysplasia Type 2.

Pathways for genes affiliated with Thanatophoric Dysplasia Type 2

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Compounds for genes affiliated with Thanatophoric Dysplasia Type 2

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GO Terms for genes affiliated with Thanatophoric Dysplasia Type 2

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Products for genes affiliated with Thanatophoric Dysplasia Type 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Thanatophoric Dysplasia Type 2

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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