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528 Possible Causes for APLASIA DYSPLASIA, Hydranencephaly, Renal, WITH

  • Senior Loken Syndrome

    […] and Retinal Aplasia Loken-Senior Syndrome Senior-Loken Syndrome Juvenile Nephronophthisis With Leber Amaurosis edit English Senior-Loken syndrome autosomal recessive genetic[wikidata.org] Deterioration of renal function was slow, leading to ESRF between the ages of 42 and 56 years.[ncbi.nlm.nih.gov] Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 A RSE Xp22.33 Chondrodysplasia punctata, X-linked recessive 302950 A RX Xp21.3 Epileptic encephalopathy, early infantile, 1 308350 Hydranencephaly[institutobernabeu.com] Renal dysplasia and retinal aplasia Juvenile nephronophthisis with retinal dystrophy Senior-Løken syndrome is genetic condition along the spectrum of Joubert syndrome and[diseaseinfosearch.org]

    Missing: WITH
  • Renal Dysplasia, Bilateral

    […] is known as MURCS association (Mullerian aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia ). de Die Kombination des MRKH Syndroms mit renalen und zervikothorakalen[de.glosbe.com] Bilateral renal dysplasia can be accompanied by urinary tract malformations (1, 3, 4, 6, 7).[link.springer.com] […] malformation Disorders of formation of the structures derived from the mediobasal prosencephalon Migration disorders Destructive lesions of fetal brain (disruptions) Porencephaly Hydranencephaly[atlases.muni.cz] Defects of the limbs are possible in TAR syndrome; however, the fibula aplasia and renal dysplasia have never before been described.[jcnonweb.com]

    Missing: WITH
  • Nephronophthisis 7

    […] and retinal aplasia, Nephronophthisis 110,165,126(-) C/T coding_sequence_variant, synonymous_variant rs121907898 pathogenic, Nephronophthisis 1, Nephronophthisis 110,201,484[genecards.org] المحتويات Management of pregnancy in renal disease in patients 347 Therapy of diabetic renal disease 377 Management of renal cystic disorders 383 Therapy of renal disorders[books.google.com] […] mitochondrial pyruvate carrier deficiency mulibrey nanism Multicystic Dysplastic Kidney multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly[rgd.mcw.edu] ,5 dysgenesis of the retinal neuroepithelium,6 retinal abiotrophy,' and hereditary retinal aplasia.7 Many other ocular and systemic problems have been reported in association[healio.com]

    Missing: WITH
  • Acrorenal Mandibular Syndrome

    […] the bladder Elbow flexion contracture Epicanthus Foot polydactyly Hand polydactyly Kyphoscoliosis Low-set ears Missing ribs Narrow chest Narrow palate Polycystic kidney dysplasia[dovemed.com] This volume has more on blood pressure and renal function and looks at the hormonal regulators.[books.google.com] […] malformation Disorders of formation of the structures derived from the mediobasal prosencephalon Migration disorders Destructive lesions of fetal brain (disruptions) Porencephaly Hydranencephaly[atlases.muni.cz] Prevención - Síndrome mandibular acro-renal No incluido. Diagnóstico - Síndrome mandibular acro-renal Mostrar - No incluido.[medicapage.com]

    Missing: WITH
  • Familial Porencephaly

    Fibrous dysplasia of bone[?] Fibrous dysplasia[?] Fibrousdysplasia ossificans progressiva[?] Fibula aplasia complex brachydactyly[?] Fibular aplasia ectrodactyly[?][encyclopedia.kids.net.au] Identify and treat a broader range of disorders , including renal and epidural abscess and cardio-renal syndrome, with 23 new topics in the Diseases & Disorders section.[books.google.com] Evolution of hydranencephaly following intracerebral hemorrhage. Obstet Gynecol 1992;79:870-871.[fetalultrasound.com] Objective : Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features.[pubfacts.com]

    Missing: WITH
  • Autosomal Recessive Frontotemporal Pachygyria

    […] chronic neuronopathic type Gaucher accompanied by progressive disease Gaucher disease juvenile and adult da2b spasticity and dementia bilateral Multicystic renal dysplasia[yumpu.com] […] syndrome 17q11 microdeletion syndrome ARX-related epileptic encephalopathy ATP13A2-related juvenile neuronal ceroid lipofuscinosis Acquired porencephaly Action myoclonus-renal[se-atlas.de] Hydranencephaly.[revistamedicina.net] The "lying down" adrenal sign: a sonographic indicator of renal agenesis or ectopia in fetuses and neonates. ‎[books.google.es]

    Missing: WITH
  • Renal-Hepatic-Pancreatic Dysplasia 1

    HYPOPLASIA Gene map locus Chr.X 19: %210710 Links MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 20: 236500 Links HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA[fetal.com] Ivemark's syndrome Renal-Hepatic-Pancreatic Dysplasia type 2 RHPD2 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2[wikidata.org] Background Renal -Hepatic-Pancreatic dysplasia syndrome is a rare sporadic or autosomal recessive disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic[yumpu.com] Renal defects include kidney cysts, dysplasia, deficient nephron differentiation and eventually renal failure.[cags.org.ae]

    Missing: WITH
  • Schimke Immunoosseous Dysplasia

    […] hypermobility Prematurely aged appearance Ovarian neoplasm Polymicrogyria Smooth philtrum Toe syndactyly Skeletal muscle atrophy Lipoatrophy Hand polydactyly Megalencephaly Cortical dysplasia[mendelian.co] Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.[journals.plos.org] […] pseudo-polydystrophie de •Hurst hallam hockey syndrome de •Hutchinson-Gilford, syndrome de •Hyalinose systemique létale petite taille •Hydatidose •Hydradénome verruqueux fistulo-végétant •Hydranencephalie[reconexion.es.tl] CONCLUSIONS: We conclude that increased Wnt and Notch activity result from SMARCAL1 deficiency and, as established causes of FSGS, contribute to the renal disease of most[luriechildrens.org]

    Missing: WITH
  • Amelogenesis Imperfecta Type 1G with Nephrocalcinosis

    […] dominant vitreoretinochoroidopathy [ ] Autosomal recessive acrofacial dysostosis [ ] Autosomal recessive Alport syndrome [ ] Autosomal recessive amelia [ ] Autosomal recessive aplasia[wikicure.wikia.com] COMMENTS Specific renal tubular disorders have recently been receiving more attention20 Among the AMERICAN JOURNAL OF MEDICINE Renal Hyperchloremic group may be included renal[docslide.com.br] Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 A RSE Xp22.33 Chondrodysplasia punctata, X-linked recessive 302950 A RX Xp21.3 Epileptic encephalopathy, early infantile, 1 308350 Hydranencephaly[institutobernabeu.com] ) Hoyeraal-Hreidarsson syndrome ( DKC1) HPRT-related gout ( HPRT1) Huchinson-Gilford Progeria ( LMNA) Hyalinosis, infantile systemic ( ANTXR2) Hydatidiform mole ( NALP7) Hydranencephaly[en.praenatal-medizin.de]

    Missing: WITH
  • Juvenile Cataract - Microcornea - Renal Glucosuria Syndrome

    , cystic, susceptibility to, 601331 SLC5A2 Renal glucosuria, 233100 ITGA8 Renal hypodysplasia/aplasia 1, 191830 PAX2 Renal hypoplasia, isolated, 191830 ATP6V1B1 Renal tubular[gsdseq.ir] Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies.[ncbi.nlm.nih.gov] ) Hoyeraal-Hreidarsson syndrome ( DKC1) HPRT-related gout ( HPRT1) Huchinson-Gilford Progeria ( LMNA) Hyalinosis, infantile systemic ( ANTXR2) Hydatidiform mole ( NALP7) Hydranencephaly[en.praenatal-medizin.de] Chondrodysplasia punctata, X-linked recessive, 302950 (3) ART4 110600 [Blood group, Dombrock] (3) ARX 300382 Epileptic encephalopathy, early infantile, 1, 308350 (3) ARX 300382 Hydranencephaly[usegalaxy.org]

    Missing: WITH