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54 Possible Causes for Hyperbiliverdinemia, Visual Impairment

  • Neuronal Ceroid Lipofuscinosis

    Rapidly progressing visual loss resulting in severe visual impairment within one to two years is often the first clinical sign.[ncbi.nlm.nih.gov] […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] Visual impairment typically appears at age four to six years and rapidly progresses to light /dark awareness only.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Primary Microcephaly Type 10

    […] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] impairment-urinary anomalies Intellectual deficit - sparse hair - brachydactyly Isolated anophthalmia - microphthalmia Juvenile Huntington disease LIG4 syndrome Li-Fraumeni[csbg.cnb.csic.es] Hyperbiliverdinemia, 614156 (3) BLVRB G:600941 . . BLZF1 G:608692 . . BMF G:606266 . . BMI1 G:164831 . . BMIQ1 P:606641 . . BMIQ2 P:606643 . . BMIQ3 P:607446 . .[usegalaxy.org]

  • Hereditary North American Indian Childhood Cirrhosis

    […] biliary excretion Normal Childhood, adolescence Asymptomatic jaundice in young adults GB not visualized Charac. pigment Not needed Rare AR 2-7; 20 Direct 60% Impaired biliary[slideshare.net] Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoportal sclerosis Hereditary North American Indian childhood cirrhosis Hereditary fructose intolerance Hyperbiliverdinemia[se-atlas.de] […] total (mg/dL) Defect Urine total coproporphyrin Age at onset of jaundice Usual clinical features Oral cholecystogram Liver biopsy Treatment Uncommon AR 2-7; 25 Direct 60% Impaired[slideshare.net]

  • Familial Recurrent Peripheral Facial Palsy

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] impairment-urinary anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase[se-atlas.de] […] skin Granulosa cell cancer Granulosa cell malignant tumor Gravidic intrahepatic cholestasis Gray platelet syndrome Grayson-Wilbrandt corneal dystrophy Greenberg dysplasia Green[orpha.net]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] impairment Cleft palate Motor delay Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language[mendelian.co] Other: Alacrima, visual impairment, hearing loss, macroglossia. Gingival hyperplasia occurs in long-term survivors. Gluteal area of same patient supine.[atlasgeneticsoncology.org]

  • Waters-West Syndrome

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Visual impairment and Low-set, posteriorly rotated ears[mendelian.co] 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] impairment Autosomal dominant inheritance Hypoplasia of the corpus callosum Cleft palate Autosomal recessive inheritance Pica Hearing impairment Feeding difficulties Low-set[mendelian.co]

  • Hereditary Hyperekplexia

    Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung cancer Acroerythrokeratoderma Renal hypodysplasia/aplasia 2 Hyperbiliverdinemia[amp.pharm.mssm.edu] The genetic basis is a mutation usually of the arginine residue 271 leading to neuronal hyperexcitability by impairing glycinergic inhibition.[pmj.bmj.com] impairment.[amp.pharm.mssm.edu]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Related symptoms: Intellectual disability Nystagmus Sensorineural hearing impairment Cataract Visual impairment SOURCES: SCTID ORPHANET More info about RETINITIS PIGMENTOSA[mendelian.co] Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia[informatics.jax.org] Visual impairment may be severe.[disorders.eyes.arizona.edu]

  • Hereditary Hyperphosphatasia

    impairment Skin abnormalities (ichthyosis, etc.)[igd.biken.osaka-u.ac.jp] Hyperandrogenism Due to Cortisone Reductase Deficiency HYP625 Hyperbilirubinemia, Rotor Type HYP236 HBLRR Hyperbilirubinemia, Transient Familial Neonatal HYP766 HBLRTFN Hyperbiliverdinemia[malacards.org] impairment, hepatosplenomegaly, renal tubular acidosis, extramedullary hemopoiesis, pancytopenia and sensorineural hearing loss [103-106].[slideheaven.com]

  • Hypospadias - Intellectual Disability Syndrome Type Goldblatt

    Cases 401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 4 Cases 168588 Hyperandrogenism due to cortisone reductase deficiency 11 Cases 276405 Hyperbiliverdinemia[azkurs.org] impairment Autosomal dominant inheritance Hypoplasia of the corpus callosum Cleft palate Autosomal recessive inheritance Pica Hearing impairment Feeding difficulties Low-set[mendelian.co] XLID Syndromes with Ocular Anomalies and/or Visual Impairment ; V. XLID Syndrome with Hearing Loss ; VI. XLID Syndromes with Facial Clefting ; VII.[amazon.de]

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