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43 Possible Causes for ARG545PRO, 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] For a dominant disorder to occur, only one defective copy of the TP73L gene is necessary.[naturallivingcenter.net] Tests Available Prenatal TP73L (TP63) Gene Sequencing Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) Syndrome and TP63-Related Disorders (TP63) Forms and Documents Test[genedx.com]

    Missing: ARG545PRO
  • 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: ARG545PRO
  • 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: ARG545PRO
  • 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: ARG545PRO
  • 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: ARG545PRO
  • Seborrhea-Like Dermatitis with Psoriasiform Elements

    Genetics Hay–Wells syndrome is autosomal dominant , [3] caused by a missense mutation in the Sterile alpha motif (SAM) of the TP73L (p63) gene which encodes for a protein-protein[checkrare.com] Genetics [ edit ] Hay–Wells syndrome is autosomal dominant , [3] caused by a missense mutation in the Sterile alpha motif (SAM) of the TP73L (p63) gene which encodes for a[en.wikipedia.org] […] eyelids, and deformed nails. [5] [21] Therefore, a diagnosis of Hay–Wells syndrome is largely based upon the physical clinical presentation of the patient. [21] See also TP73L[checkrare.com]

    Missing: ARG545PRO
  • Bassoe Syndrome

    […] aging, a predisposition to malignancy, genome instability Werner syndrome 21 WRN Premature aging, a predisposition to malignancy, genome instability Rapp-Hodgkin syndrome 22 TP73L[endocrine.gr]

    Missing: ARG545PRO
  • Rapp-Hodgkin Syndrome

    Autosomal dominant inheritance: For a dominant disorder to appear, only one defective copy of the TP73L gene is necessary.[health24.com] 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] CAUSES General: Rapp-Hodgkin syndrome (RHS) is believed to be caused by a mutation or defect in the TP73L gene, which produces several variants of the p73-like tumor protein[health24.com]

    Missing: ARG545PRO
  • 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]

    Missing: ARG545PRO
  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    […] aging, a predisposition to malignancy, genome instability Werner syndrome 21 WRN Premature aging, a predisposition to malignancy, genome instability Rapp-Hodgkin syndrome 22 TP73L[endocrine.gr]

    Missing: ARG545PRO

Further symptoms