eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thanatophoric dysplasia | ||||
| Disease ID | 255 |
|---|---|
| Disease | thanatophoric dysplasia |
| Definition | A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period. |
| Synonym | dwarfism, thanatophoric dwarfisms, thanatophoric dysplasia, thanatophoric dysplasias, thanatophoric td - thanatophoric dwarfism thanatophoric dwarf thanatophoric dwarfism thanatophoric dwarfism syndrome thanatophoric dwarfisms thanatophoric dysplasia (disorder) thanatophoric dysplasia [disease/finding] thanatophoric dysplasias thanatophoric short stature |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0039743 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 57492 | ARID1B | 1.9 | DISEASES 633 | BGN | 1.141 | DISEASES 64084 | CLSTN2 | 2.332 | DISEASES 1280 | COL2A1 | 2.08 | DISEASES 79659 | DYNC2H1 | 2.769 | DISEASES 2246 | FGF1 | 2.766 | DISEASES 2258 | FGF13 | 2.955 | DISEASES 8822 | FGF17 | 2.468 | DISEASES 2248 | FGF3 | 2.648 | DISEASES 2253 | FGF8 | 3.263 | DISEASES 2254 | FGF9 | 1.786 | DISEASES 2260 | FGFR1 | 2.599 | DISEASES 2263 | FGFR2 | 3.785 | DISEASES 2261 | FGFR3 | 7.51 | DISEASES 2331 | FMOD | 2.719 | DISEASES 10013 | HDAC6 | 1.211 | DISEASES 3980 | LIG3 | 1.201 | DISEASES 5609 | MAP2K7 | 1.372 | DISEASES 4882 | NPR2 | 2.22 | DISEASES 8481 | OFD1 | 2.201 | DISEASES 11168 | PSIP1 | 1.831 | DISEASES 5744 | PTHLH | 2.447 | DISEASES 2185 | PTK2B | 2.247 | DISEASES 5781 | PTPN11 | 1.347 | DISEASES 51715 | RAB23 | 2.3 | DISEASES 57154 | SMURF1 | 2.116 | DISEASES 10252 | SPRY1 | 2.765 | DISEASES 10253 | SPRY2 | 1.986 | DISEASES 6772 | STAT1 | 3.417 | DISEASES 6776 | STAT5A | 1.829 | DISEASES 100038246 | TLX1NB | 6.509 | DISEASES 146691 | TOM1L2 | 4.248 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 255 |
|---|---|
| Disease | thanatophoric dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:41) HP:0008873 | Disproportionate short-limb short stature HP:0011800 | Midface retrusion HP:0000520 | Proptosis HP:0002089 | Pulmonary hypoplasia HP:0002119 | Ventriculomegaly HP:0000365 | Hearing impairment HP:0000238 | Hydrocephalus HP:0005280 | Depressed nasal bridge HP:0001631 | Atrial septal defect HP:0010306 | Short thorax HP:0001156 | Brachydactyly syndrome HP:0002652 | Skeletal dysplasia HP:0002007 | Frontal bossing HP:0002676 | Cloverleaf skull HP:0012368 | Flat face HP:0000369 | Low-set ears HP:0002564 | Malformation of the heart and great vessels HP:0005692 | Joint hyperflexibility HP:0001643 | Patent ductus arteriosus HP:0000774 | Narrow chest HP:0001511 | Intrauterine growth retardation HP:0000494 | Downslanted palpebral fissures HP:0002282 | Heterotopia HP:0100781 | Abnormality of the sacroiliac joint HP:0001250 | Seizures HP:0002093 | Respiratory insufficiency HP:0000256 | Macrocephaly HP:0000077 | Abnormality of the kidney HP:0002808 | Kyphosis HP:0000926 | Platyspondyly HP:0001385 | Hip dysplasia HP:0002867 | Abnormality of the ilium HP:0002187 | Intellectual disability, profound HP:0010880 | Increased nuchal translucency HP:0001582 | Redundant skin HP:0001387 | Joint stiffness HP:0001252 | Muscular hypotonia HP:0000956 | Acanthosis nigricans HP:0000944 | Abnormality of the metaphyses HP:0002983 | Micromelia HP:0001561 | Polyhydramnios |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 255 |
|---|---|
| Disease | thanatophoric dysplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0221355 | megalencephaly |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913105 | 25119967 | 2261 | FGFR3 | umls:C0039743 | BeFree | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. | 0.150289326 | 2014 | FGFR3 | 4 | 1806163 | A | C,T |
| rs121913479 | 21264819 | 2261 | FGFR3 | umls:C0039743 | BeFree | When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade. | 0.150289326 | 2011 | FGFR3 | 4 | 1804362 | G | T |
| rs121913479 | 9790257 | 2261 | FGFR3 | umls:C0039743 | BeFree | G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. | 0.150289326 | 1998 | FGFR3 | 4 | 1804362 | G | T |
| rs121913482 | 12833394 | 2261 | FGFR3 | umls:C0039743 | BeFree | Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. | 0.150289326 | 2003 | FGFR3 | 4 | 1801837 | C | T |
| rs121913482 | 10910625 | 2261 | FGFR3 | umls:C0039743 | BeFree | R248C mutation in the extracellular domain of fibrobast growth factor receptor 3 (FGFR3) was common in TD type I. | 0.150289326 | 1999 | FGFR3 | 4 | 1801837 | C | T |
| rs121913483 | 21264819 | 2261 | FGFR3 | umls:C0039743 | BeFree | When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade. | 0.150289326 | 2011 | FGFR3 | 4 | 1801841 | C | G,T |
| rs267606808 | 19449430 | 2261 | FGFR3 | umls:C0039743 | BeFree | Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R]. | 0.150289326 | 2009 | FGFR3 | 4 | 1805396 | A | G |
| rs28931614 | 9055906 | 2261 | FGFR3 | umls:C0039743 | BeFree | The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (Gly380Arg) in the gene encoding fibroblast growth factor receptor 3 (FGFR-3) has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dysplasia (TD; types I and II) and hypochondroplasia. | 0.150289326 | 1996 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28931614 | 12297284 | 2261 | FGFR3 | umls:C0039743 | BeFree | Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia. | 0.150289326 | 2002 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28933068 | 19449430 | 2261 | FGFR3 | umls:C0039743 | BeFree | Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R]. | 0.150289326 | 2009 | FGFR3 | 4 | 1805644 | C | A,G,T |
| rs78311289 | 12297284 | 2261 | FGFR3 | umls:C0039743 | BeFree | Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia. | 0.150289326 | 2002 | FGFR3 | 4 | 1806162 | A | C,G |
| rs78311289 | 19855393 | 3265 | HRAS | umls:C0039743 | BeFree | Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. | 0.000271442 | 2009 | FGFR3 | 4 | 1806162 | A | C,G |
| rs78311289 | 19855393 | 2261 | FGFR3 | umls:C0039743 | BeFree | Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. | 0.150289326 | 2009 | FGFR3 | 4 | 1806162 | A | C,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012368 | Flat face | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0100781 | Abnormality of the sacroiliac joint | MP:0008304 | abnormal organ of Corti supporting cell differentiation | atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti |
| HP:0001582 | Redundant skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0008873 | Disproportionate short-limb short stature | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0002089 | Pulmonary hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0011800 | Hypoplasia of midface | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000077 | Abnormality of the kidney | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:39) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001385 | Hip dysplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0010306 | Short thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002187 | Intellectual disability, profound | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002282 | Heterotopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008873 | Disproportionate short-limb short stature | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0100781 | Abnormality of the sacroiliac joint | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000956 | Acanthosis nigricans | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002676 | Cloverleaf skull | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001643 | Patent ductus arteriosus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0010880 | Increased nuchal translucency | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001561 | Polyhydramnios | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001582 | Redundant skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012368 | Flat face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002089 | Pulmonary hypoplasia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002007 | Frontal bossing | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 255 |
|---|---|
| Disease | thanatophoric dysplasia |
| Case | (Waiting for update.) |