Belgian Genetic Tests database- Diseases
- Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 1
| Name: |
Thanatophoric dysplasia type 1
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| Description: |
A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.
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| ORPHAcode: |
1860
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| Synonyms: |
TD1
Thanatophoric dwarfism type 1
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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- Craniosynostosis (gene panel)
- Short Stature (gene panel)
- Short stature/ Growth retardation/ (gene panel)
- Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)
- Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
- Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
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Craniosynostosis (32 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ASXL1 95.00 0 NM_015338.6/ interpretable range CS1>95% COLEC10 95.00 0 NM_006438.5/ interpretable range CS1>95% COLEC11 95.00 0 NM_024027.5/ interpretable range CS1>95% CYP26B1 95.00 0 NM_019885.4/ interpretable range CS1>95% EFNB1 95.00 0 NM_004429.5/ interpretable range CS1>95% ERF 95.00 0 NM_006494.4/ interpretable range CS1>95% FAM111A 95.00 0 NM_022074.4/ interpretable range CS1>95% FGFR1 95.00 0 NM_023110.3/ interpretable range CS1>95% FGFR2 95.00 0 NM_000141.5/ interpretable range CS1>95% FGFR3 95.00 0 NM_000142.5/ interpretable range CS1>95% HNRNPK 95.00 0 NM_002140.5/ interpretable range CS1>95% IL11RA 95.00 0 NM_001142784.3/ interpretable range CS1>95% IL6ST 95.00 0 NM_002184.4/ interpretable range CS1>95% LTBP1 95.00 0 NM_206943.4/ interpretable range CS1>95% MASP1 95.00 0 NM_139125.4/ interpretable range CS1>95% MEGF8 95.00 0 NM_001410.3/ interpretable range CS1>95% MSX2 95.00 0 NM_002449.5/ interpretable range CS1>95% POR 95.00 0 NM_001367562.3/ interpretable range CS1>95% RAB23 95.00 0 RAB23 NM_183227.3/ interpretable range CS1>95% RECQL4 95.00 0 NM_004260.4/ interpretable range CS1>95% RUNX2 95.00 0 NM_001024630.4/ interpretable range CS1>95% SIX1 95.00 0 NM_005982.4/ interpretable range CS1>95% SKI 95.00 0 SKI NM_003036.4/ interpretable range CS1>95% SLC25A24 95.00 0 NM_013386.5/ interpretable range CS1>95% SMAD6 95.00 0 NM_005585.5/ interpretable range CS1>95% SMO 95.00 0 NM_005631.5/ interpretable range CS1>95% TCF12 95.00 0 NM_207036.2/ interpretable range CS1>95% TFAP2B 95.00 0 NM_003221.4/ interpretable range CS1>95% TRAF7 95.00 0 NM_032271.3/ interpretable range CS1>95% TWIST1 95.00 0 NM_000474.4/ interpretable range CS1>95% ZIC1 95.00 0 NM_003412.4/ interpretable range CS1>95% ZNF462 95.00 0 NM_021224.6/ interpretable range CS1>95% -
Growth retardation/short stature (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 98.48 1 ALPL 99.97 1 ANKRD11 100.00 1 ARCN1 99.91 1 ARID1A 98.84 1 ARID1B 97.80 1 ARID2 99.96 1 BMP2 99.97 1 BRAF 98.17 1 BTK 99.34 1 CBL 99.89 1 CCDC8 100.00 1 CDC45 100.00 1 CDC6 99.94 1 CDKN1C 97.19 1 CDT1 94.33 1 CREBBP 99.91 1 CUL7 100.00 1 DHCR7 100.00 1 DVL1 100.00 1 EP300 99.96 1 FGD1 98.85 1 FGFR3 99.67 1 FLNA 99.89 1 GH1 100.00 1 GHR 99.78 1 GHRHR 99.79 1 GHSR 99.99 1 GMNN 99.70 1 HESX1 99.81 1 HMGA2 72.70 1 HRAS 100.00 1 IGF1 99.96 1 IGF1R 99.98 1 IGF2 100.00 1 IGFALS 100.00 1 IHH 99.93 1 KDM6A 98.95 1 KMT2A 99.18 1 KMT2D 99.98 1 KRAS 99.92 1 LZTR1 99.99 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK1 99.56 1 MRAS 100.00 1 NBAS 99.97 1 NPR2 99.97 1 NRAS 99.45 1 OBSL1 99.32 1 ORC1 99.96 1 ORC4 99.90 1 ORC6 99.91 1 PAPPA2 99.91 1 PIK3R1 99.80 1 PLAG1 99.90 1 POC1A 99.98 1 POU1F1 99.92 1 PPP1CB 99.99 1 PTPN11 99.91 1 RAF1 99.96 1 RASA2 99.59 1 RIT1 99.96 1 RNPC3 99.76 1 ROR2 99.24 1 RRAS2 99.60 1 SHOC2 99.81 1 SHOX 94.81 1 SMARCA4 99.98 1 SMARCB1 100.00 1 SOS1 99.81 1 SOS2 99.70 1 SOX3 97.93 1 SPRED2 99.96 1 SRCAP 99.97 1 STAT5B 99.94 1 TOP3A 99.95 1 TRIM37 99.81 1 WNT5A 99.96 1 YY1 99.63 1 -
Short Stature (46 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 90.00 1 NM_001369268.1 ANKRD11 100.00 1 NM_013275.6 BRAF 100.00 1 NM_001354609.2 BTK 100.00 1 NM_000061.3 CBL 100.00 1 NM_005188.4 CCDC8 100.00 1 NM_032040.5 CREBBP 100.00 1 NM_004380.3 CUL7 100.00 1 NM_014780.5 DHCR7 100.00 1 NM_001360.3 DVL1 100.00 1 NM_001330311.2 EP300 100.00 1 NM_001429.4 FGD1 100.00 1 NM_004463.3 FGFR3 100.00 1 NM_001163213.1 GH1 100.00 1 NM_000515.5 GHR 100.00 1 NM_000163.5 GHRHR 100.00 1 NM_000823.4 GHSR 100.00 1 NM_198407.2 HRAS 100.00 1 NM_005343.4 IGF1 100.00 1 NM_000618.5 IGF1R 100.00 1 NM_000875.5 IGF2 100.00 1 NM_000612.6 IGFALS 100.00 1 NM_004970.3 KDM6A 100.00 1 NM_001291415.2 KMT2D 100.00 1 NM_003482.3 KRAS 100.00 1 NM_033360.4 NPPC 100.00 1 NM_024409.4 NPR2 100.00 1 NM_003995.3 NPR3 100.00 1 NM_001204375.2 NRAS 100.00 1 NM_002524.5 OBSL1 100.00 1 NM_015311.3 PIK3R1 100.00 1 NM_181523.3 POU1F1 100.00 1 NM_000306.4 PTPN11 100.00 1 NM_002834.5 RAF1 100.00 1 NM_001354689.3 RASA2 100.00 1 NM_006506.5 RIT1 100.00 1 NM_006912.6 ROR2 100.00 1 NM_004560.4 RPS6KA3 100.00 1 NM_004586.3 SHOC2 100.00 1 NM_007373.4 SHOX 100.00 1 NM_000451.3 SOS1 100.00 1 NM_005633.3 SOX3 100.00 1 NM_005634.2 SRCAP 100.00 1 NM_006662.3 STAT5B 100.00 1 NM_012448.4 TRIM37 100.00 1 NM_015294.6 WNT5A 100.00 1 NM_003392.4