Create issue ticket

257 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Old Order Amish and Turkish Patients Reported

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

    Missing: Old Order Amish and Turkish Patients Reported
  • Cerebro-Facio-Thoracic Dysplasia

    ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] The facial appearance in the de Lange syndrome is very similar to that found in cerebro-facio-thoracic dysplasia, for there is synophrys (joining of the eyebrows in midline[vdocuments.site]

    Missing: Mutation in the MLL Gene
  • Genee-Wiedemann Syndrome

    Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11 .[wiedemannsteiner.com] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com] Wiedemann-Steiner syndrome is a rare genetic disorder resulting from mutations in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11.[wssfoundation.org]

    Missing: Old Order Amish and Turkish Patients Reported
  • Coffin-Lowry Syndrome

    RSK2 is a growth factor-regulated serine-threonine protein kinase, acting in the Ras-Mitogen-Activated Protein Kinase (MAPK) signaling pathway. Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by psychomotor[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene Old Order Amish and Turkish Patients Reported
  • Rubinstein-Taybi Syndrome

    The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov] , microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis, and undescended testes. [2] Current literature[faoj.org]

    Missing: Mutation in the MLL Gene Old Order Amish and Turkish Patients Reported
  • Fucosidosis

    Fucosidosis is an extremely rare, autosomal recessive lysosomal storage disease, characterized by a deficiency of the lysosomal hydrolase alpha fucosidase. We report a case of a 6-year-old child, diagnosed with fucosidosis type 2, who presented for dental rehabilitation under general anesthesia. Anesthesia was[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene Old Order Amish and Turkish Patients Reported
  • Marshall-Smith Syndrome

    - A dictionary of medical eponyms Related people David Weyhe Smith Richard E. Marshall A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. The clinical course is marked mainly by pneumonia, stridor, respiratory distress, and death. The aetiology is[…][whonamedit.com]

    Missing: Mutation in the MLL Gene Old Order Amish and Turkish Patients Reported
  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

    Missing: Mutation in the MLL Gene Old Order Amish and Turkish Patients Reported
  • Pelvic Organ Prolapse

    This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14).[amp.pharm.mssm.edu] Mutations in this gene cause au to somal recessive primary microcephaly-4 (MCPH4).[amp.pharm.mssm.edu]

    Missing: Hypertrichosis of Eyebrows Old Order Amish and Turkish Patients Reported
  • Small-Cell Carcinoma of the Lung

    […] amplification seen in FGFR1, MYCL, E2F2, and CCN2 genes Gene mutation seen in CREBBP, EP300, MLL, PTEN, SLIT2, and EPHA7 genes And gene inactivation seen in TP53 and RB1[dovemed.com] […] genes (in many cases) No preinvasive lesions, such as diffuse idiopathic pulmonary neuroendocrine hyperplasia (DIPNECH), or genetic mutations on MEN1 gene, which are both[dovemed.com] […] in individuals who have been continuously smoking for several decades (up to 30 years or more) Many genetic and chromosomal anomalies have been reported, which include: Gene[dovemed.com]

    Missing: Hypertrichosis of Eyebrows Old Order Amish and Turkish Patients Reported