rtel1 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (119)

Interactants (30)

XB-GENEPAGE-6035929

Gene Symbol: rtel1 Gene Name: regulator of telomere elongation helicase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (83 sources): Abnormal blistering of the skin, Abnormal eyebrow morphology, Abnormal eyelash morphology, Abnormal fingernail morphology, Abnormality of coagulation, Abnormality of neutrophils, Abnormality of the dentition, Abnormality of the pharynx, Abnormal leukocyte morphology, Abnormal morphology of female internal genitalia, Abnormal testis morphology, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Ataxia, Avascular necrosis, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Cirrhosis, Coarse metaphyseal trabecularization, Colitis, Decreased circulating antibody concentration, Dermal atrophy, Diabetes mellitus, Displacement of the urethral meatus, Eczematoid dermatitis, Esophageal stricture, Excessive wrinkled skin, Failure to thrive, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Hypoplasia of the maxilla, Hyporeflexia, Immunodeficiency, Intellectual disability, Intrauterine growth retardation, Leukopenia, Lymphoma, Macule, Malabsorption, Microcephaly, Nail dystrophy, Neoplasm, Neoplasm of the pancreas, obsolete Hypotrichosis, Oral leukoplakia, Osteoporosis, Palmoplantar keratoderma, Periodontitis, Premature graying of hair, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Scoliosis, Short stature, Skin ulcer, Skin vesicle, Sparse hair, Sparse scalp hair, Spasticity, Splenomegaly, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly, White hair [+]
Mouse (25 sources): abnormal cell differentiation, abnormal cephalic neural fold morphology, abnormal dermomyotome development, abnormal DNA replication, abnormal head paraxial mesoderm morphology, abnormal mitosis, abnormal myotome development, abnormal neural crest cell morphology, abnormal placenta morphology, abnormal placenta vasculature, abnormal telomere morphology, cellular phenotype, decreased embryo size, decreased trophoblast giant cell number, early cellular replicative senescence, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enlarged allantois, enlarged floor plate, failure of chorioallantoic fusion, hematoma, incomplete rostral neuropore closure, no abnormal phenotype detected, small allantois, small ectoplacental cone [+]
View all ortholog results at Monarch