ABCA12 Related Diseases

ABCA12

Related Diseases

1) Congenital Ichthyosiform Erythroderma
Autosomal Recessive Congenital Ichthyosis, also known as lamellar ichthyosis, is related to ichthyosis, congenital, autosomal recessive 1 and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Autosomal Recessive Congenital Ichthyosis is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Bezafibrate and Ustekinumab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and subthalamic nucleus, and related phenotypes are ichthyosis and abnormality of the nail

2) Harlequin Ichthyosis
Ichthyosis, Congenital, Autosomal Recessive 4b, also known as harlequin ichthyosis, is related to ichthyosis, congenital, autosomal recessive 3 and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 4b is ABCA12 (ATP Binding Cassette Subfamily A Member 12), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, eye and tongue, and related phenotypes are recurrent respiratory infections and hyperkeratosis

3) Multiple Myeloma
Myeloma, Multiple, also known as multiple myeloma, is related to monoclonal gammopathy of uncertain significance and plasma cell neoplasm. An important gene associated with Myeloma, Multiple is LIG4 (DNA Ligase 4), and among its related pathways/superpathways are Breast cancer pathway and MAPK Signaling: Mitogens. The drugs Busulfan and Levofloxacin have been mentioned in the context of this disorder. Affiliated tissues include Blood, and related phenotypes are osteopenia and pathologic fracture

4) Autosomal Recessive Congenital Ichthyosis
Autosomal Recessive Congenital Ichthyosis, also known as lamellar ichthyosis, is related to ichthyosis, congenital, autosomal recessive 1 and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Autosomal Recessive Congenital Ichthyosis is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Bezafibrate and Ustekinumab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and subthalamic nucleus, and related phenotypes are ichthyosis and abnormality of the nail

5) Acute Myeloid Leukemia
Acute Myeloblastic Leukemia with Maturation, also known as acute myeloblastic leukemia type 2, is related to myeloid leukemia and myeloid sarcoma. An important gene associated with Acute Myeloblastic Leukemia with Maturation is MIR181A1HG (MIR181A1 Host Gene), and among its related pathways/superpathways are Ras signaling and Hematopoietic Stem Cells and Lineage-specific Markers. The drugs Nicotine and Amsacrine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and t cells, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

6) Cancer, Kidney
Kidney Cancer, also known as renal cancer, is related to renal cell carcinoma, nonpapillary and wilms tumor 1, and has symptoms including flank pain An important gene associated with Kidney Cancer is HOTAIR (HOX Transcript Antisense RNA), and among its related pathways/superpathways are miRNAs involvement in the immune response in sepsis and miRNAs involved in DNA damage response. The drugs Ropivacaine and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and endothelial.

7) Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due to Cerebral Folate Transport Deficiency, also known as cerebral folate transport deficiency, is related to megaloblastic anemia due to dihydrofolate reductase deficiency and autism, and has symptoms including seizures An important gene associated with Neurodegeneration Due to Cerebral Folate Transport Deficiency is FOLR1 (Folate Receptor Alpha). Affiliated tissues include brain and cerebellum, and related phenotypes are intellectual disability and developmental regression

8) Autism Spectrum Disorders
Autism Spectrum Disorder, also known as autism spectrum disorders, is related to autism and attention deficit-hyperactivity disorder, and has symptoms including widespread abnormalities of social interactions, severely restricted interests and highly repetitive behavior. An important gene associated with Autism Spectrum Disorder is SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Thyroid hormones production and peripheral downstream signaling effects and Rett syndrome causing genes. The drugs Acetylcholine and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prefrontal cortex, and related phenotypes are nervous system and growth/size/body region

9) Ichthyosis
Ichthyosis, also known as ichthyoses, is related to ichthyosis, congenital, autosomal recessive 4b and autosomal recessive congenital ichthyosis, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis is TGM1 (Transglutaminase 1), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Ustekinumab and Emollients have been mentioned in the context of this disorder. Affiliated tissues include skin, neutrophil and lymph node, and related phenotypes are homeostasis/metabolism and growth/size/body region

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