Harlequin Ichthyosis

About the Disease
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

Common Targets
G3480 | TGM1 | CYP4F22 | TRPV3 | CERS3 | HDAC6 | ABCA12

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Spondylolisthesis | Neurofibromatosis-Noonan Syndrome | Epiphyseal Chondrodysplasia, Miura Type | Pilomatrix Carcinoma | Ichthyosis, X-linked | Optic Nerve Diseases | Cerebrovascular Disorders | Autoimmune Polyendocrinopathy Syndrome Type I | Pulmonary Alveolar Proteinosis | Malignant Fibrous Histiocytoma | Cri-du-chat Syndrome | B-cell Prolymphocytic Leukemia | Asthma | Omenn Syndrome | Corneal Dystrophy | Fabry's Disease | Spinocerebellar Ataxia Type 10 | Transthyretin-related Amyloidosis | Hydrops Fetalis | Noonan Syndrome-like Disorder With Loose Anagen Hair | Axenfeld-Rieger Syndrome | Retinal Diseases | Hypoalbuminemia | Nephrotic Syndrome | Benign Familial Neonatal Convulsions | Choriocarcinoma | Central Retinal Artery Occlusion | Osteochondroma | Essential Fructosuria | Nicotine Addiction | Multiple Sclerosis | Mucolipidosis Type IV | Endocarditis | Lamellar Ichthyosis | Pancreatitis, Chronic | Autoimmune Autonomic Ganglionopathy | Mountain Sickness | Emery-Dreifuss Muscular 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Imperfecta Type IV | Zimmermann-Laband Syndrome | Swine Influenza | Lymphoma | REM Sleep Behavior Disorder | Coronary Artery Disease | Lymphedema-distichiasis Syndrome | Non-Hodgkin Lymphoma | Leprosy | Spinal Muscular Atrophy | Congenital Dyserythropoietic Anemia | Stroke | Gerodermia Osteodysplastica | Bartsocas-Papas Syndrome | Atelosteogenesis Type 1 | Cockayne Syndrome | Pleural Tuberculosis | Sezary Syndrome | Acrodermatitis | Hypophosphatasia | Antenatal Bartter Syndrome Type 1 | Subacute Sclerosing Panencephalitis | Mabry Syndrome | Plasmacytoma | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Craniofacial Dysostosis | Presbyopia | Hypothalamic Obesity | Ganglioglioma | Apert Syndrome | Multicentric Carpotarsal Osteolysis Syndrome | Hyperparathyroidism, Secondary | Hyperkeratosis | Dermatitis | Retinal Dystrophy | Dermatofibrosarcoma | Ureteropelvic Junction Obstruction | Fanconi Anemia | Rheumatoid Arthritis | Dysfibrinogenemia | Gingivitis | Diamond-Blackfan 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