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194 Possible Causes for LYS194GLU, TP73L

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  • Hay-Wells Syndrome

    In this boy, a mutation Ile537Thr (c.1610C T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected.[ncbi.nlm.nih.gov] Familial EEC syndrome without ectrodactyly has been described previously. 41 Alternatively, p63 missense mutations Lys194Glu and Arg280Cys have been found in cases of non-syndromic[jmg.bmj.com] Hay–Wells syndrome is autosomal dominant, caused by a missense mutation in the Sterile alpha motif (SAM) of the TP73L (p63) gene which encodes for a protein-protein interaction[en.wikipedia.org]

  • Non-Syndromic Orofacial Cleft

    Non syndromic cases : OFC1 (locus 6p23-p24) OFC2 (locus 2p13) OFC3 (locus 19q13) OFC4 (locus 4q21-q31) OFC5 (gene MSX1 ) OFC6 (gene IRF6 ) OFC7 (gene PVRL1 ) OFC8 (gene TP73L[flipper.diff.org] Familial EEC syndrome without ectrodactyly has been described previously. 41 Alternatively, p63 missense mutations Lys194Glu and Arg280Cys have been found in cases of non-syndromic[jmg.bmj.com]

  • Ectrodactyly-Cleft Palate Syndrome

    EEC3 : A second form of the disease, EEC3, is caused by a mutation in the TP73L gene.[wellness.com] There is a genotype-phenotype correlation in alterations in the TP63 gene reported, also known as TP73L.[ivami.com] Genetic studies have revealed that mutation in the TP63 or TP73L genes occur in these cases. [5] Celli et al. [1] reported that a mutation in p63 gene a homolog of p53 gene-is[jisppd.com]

    Missing: LYS194GLU
  • Ectrodactyly-Ectodermal Dysplasia without Clefting Syndrome

    EEC3 : A second form of the disease, EEC3, is caused by a mutation in the TP73L gene.[wellness.com] Forms and Documents Test Details Genes: NIPBL, SALL1, SALL4, TBX5, TP73L (TP63) Clinical Utility: Prenatal diagnosis in a fetus based on ultrasound findings suggestive of[genedx.com] Genetic studies have revealed that mutation in the TP63 or TP73L genes occur in these cases. [5] Celli et al. [1] reported that a mutation in p63 gene a homolog of p53 gene-is[jisppd.com]

    Missing: LYS194GLU
  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    ]) Aicardi-Goutieres-Syndrom Typ 1 (AGS1; TREX1 ) Aicardi-Goutieres-Syndrom Typ 5 (AGS5; SAMHD1 ) ADULT-Syndrom (Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome; TP63 [p63, TP73L[archive.is] ] 603273 ) Lippenspalte mit oder ohne Gaumenspalte Typ 8 129400 ( TP63 [ TP73L ] 603273 ) Lissencephalie Typ 1 607432 (LIS1; PAFAH1B1 [ LIS1 ] 601545 ) Lissencephalie Typ[medizinische-genetik-dresden.de] (PKD2; PKD2 ) Popliteales Pterygium-Syndrom (PPS; IRF6 ) Raine-Syndrom, letale Form der osteosklerotischen Knochendysplasie (RNS; FAM20C ) Rapp-Hodgkin-Syndrom ( TP63 [ TP73L[archive.is]

    Missing: LYS194GLU
  • Limb-Mammary Syndrome

    Forms and Documents Test Details Genes: NIPBL, SALL1, SALL4, TBX5, TP73L (TP63) Clinical Utility: Prenatal diagnosis in a fetus based on ultrasound findings suggestive of[genedx.com] Stomatitis Protein 3 4 Keratinocyte Transcription Factor KET 3 4 Tumor Protein P53-Competing Protein 2 3 Transformation-Related Protein 63 3 4 Tumor Protein P73-Like 2 4 TP73L[genecards.org]

    Missing: LYS194GLU
  • Pseudohypoparathyroidism Type 1C

    ]) Aicardi-Goutieres-Syndrom Typ 1 (AGS1; TREX1) Aicardi-Goutieres-Syndrom Typ 5 (AGS5; SAMHD1) ADULT-Syndrom (Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome; TP63 [p63, TP73L[docplayer.org] ]) Aicardi-Goutieres-Syndrom Typ 1 (AGS1; TREX1 ) Aicardi-Goutieres-Syndrom Typ 5 (AGS5; SAMHD1 ) ADULT-Syndrom (Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome; TP63 [p63, TP73L[archive.is] ] 603273 ) Lippenspalte mit oder ohne Gaumenspalte Typ 8 129400 ( TP63 [ TP73L ] 603273 ) Lissencephalie Typ 1 607432 (LIS1; PAFAH1B1 [ LIS1 ] 601545 ) Lissencephalie Typ[medizinische-genetik-dresden.de]

    Missing: LYS194GLU
  • Rapp-Hodgkin Syndrome

    Autosomal dominant inheritance: For a dominant disorder to appear, only one defective copy of the TP73L gene is necessary.[health24.com] OMIM: 129400 BDE: Etiologia: AD Cromossomo: 3q27 Gene: TP63 ( TP73L ) Proteína: Proteína tumoral p63 Pêlos: Cabelos secos, duros, grossos; pêlos retorcidos (pili torti); ausentes[displasias.ufpr.br] A sample of the patient's blood is taken and analyzed in a laboratory for the defect in the TP73L gene. If this is detected, a positive diagnosis is made.[health24.com]

    Missing: LYS194GLU
  • Autosomal Recessive Stickler Syndrome Type 1

    ]) Aicardi-Goutieres-Syndrom Typ 1 (AGS1; TREX1 ) Aicardi-Goutieres-Syndrom Typ 5 (AGS5; SAMHD1 ) ADULT-Syndrom (Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome; TP63 [p63, TP73L[archive.is] ] 603273 ) Lippenspalte mit oder ohne Gaumenspalte Typ 8 129400 ( TP63 [ TP73L ] 603273 ) Lissencephalie Typ 1 607432 (LIS1; PAFAH1B1 [ LIS1 ] 601545 ) Lissencephalie Typ[medizinische-genetik-dresden.de] (PKD2; PKD2 ) Popliteales Pterygium-Syndrom (PPS; IRF6 ) Raine-Syndrom, letale Form der osteosklerotischen Knochendysplasie (RNS; FAM20C ) Rapp-Hodgkin-Syndrom ( TP63 [ TP73L[archive.is]

    Missing: LYS194GLU
  • Split Hand-Split Foot Malformation

    Tests Available Prenatal TP73L (TP63) Gene Sequencing Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) Syndrome and TP63-Related Disorders (TP63) Forms and Documents Test[genedx.com] Mutation-specific testing for fetuses with a family history of a known TP73L (TP63) mutation Ordering Turnaround Time: 2-3 weeks Preferred Specimen: 20 mL Amniotic Fluid Alternative[genedx.com]

    Missing: LYS194GLU

Further symptoms