ichthyosis

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ichthyosis

Associated Diseases	Laboratory Findings	Clinical Symptoms
ALPORT SYNDROME MIM:301050 CHONDRODYSPLASIA PUNCTATA, CONRADI HUNERMANN MIM:118650 CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT MIM:302960 CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE MIM:302950 CHONDRODYSTROPHIA CALCIFICANS CONGENITA MIM:215100 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im MIM:610768 MULTIPLE SULFATASE DEFICIENCY (MSD) MIM:272200 REFSUM DISEASE MIM:266500	8(9)-cholestenol 8-Dehydrocholesterol Alkyl-dihydroxyacetone phosphate synthase Alkyl-dihydroxyacetone-phosphate synthase Arylsulfatase A Arylsulfatase B Arylsulfatase C Dihydroxyacetone-phosphate acyltransferase (DHAPAT) DNA ECG abnormalities [-] Erythrocytes Heparan-N-sulfamidase Iduronide-2-sulfate sulfatase N-Acetylgalactosamin-6-sulfate sulfatase N-Acetylglucosamine-6-sulfate sulfatase no specific laboratory findings Phytanic acid oxidation Phytanic acid Plasmalogens biosynthesis Pristanic acid Protein total spinal fluid Protein urine Steroid sulfatase Thrombocytes Platelets	alopecia anosmia ataxia blindness, visual loss, visual impairment broad thumbs cardiomyopathy cataract cherry-red spot on retinal macula congenital heart defect contractures, joints corneal clouding defect of walking, running, rising or climbing dysmorphism early death eye defect beginning in infancy or childhood failure to thrive feeding difficulties, poor feeding femora, shortened flat depressed nasal bridge (saddle nose) glaucoma great toes growth retardation hair loss hearing defect, deafness hematuria high arched palate humeri, shortened hyperkeratosis hypertelorism hypertension hypoglycemia hypotonia ichthyosis infections (severe or recurrent) joint stiffness kyphoskoliosis large liver leiomyomatosis limb abnormalities, limb deformities lymyphedema mental retardation microcephaly microphthalmus motor retardation muscle weakness nasal hypoplasia nephritis neurological deterioration night blindness nystagmus onset, adolescent onset, adult onset, child onset, newborn optic atrophy peripheral neuropathy progressive neurologic defect punctate calcifications renal failure, acute/chronic respiratory distress retinal or macular degeneration retinitis pigmentosa saddle nose seizures short stature skeletal changes spastic diplegia/quadriplegia swallowing difficulties thrombopenia, thrombocytopenia X-ray, abnormalities