... it is known as oculocerebrorenal syndrome. List of congenital disorders "Oculocerebrorenal Syndrome: Background, ... Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital ... "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December 2016. "Fanconi syndrome: MedlinePlus ... is associated with oculocerebrorenal syndrome Fibroblasts X-link recessive inheritance Diagnosis of oculocerebrorenal syndrome ...
"Entrez Gene: oculocerebrorenal syndrome of Lowe". "OCRL - an overview , ScienceDirect Topics". www.sciencedirect.com. Retrieved ... Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (June 1998). "Oculocerebrorenal syndrome of Lowe: three mutations in the ... Deficiencies in OCRL-1 may cause with oculocerebrorenal syndrome and also have been linked to Dent's disease. GRCh38: Ensembl ... Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the ...
"The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase". Nature ... Nelson's contributions have led to the description of Lowe syndrome, and the identification of FMR2 for FRAXE syndrome. ... Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent ... Diagnosis of the fragile X syndrome. Fellow, American Association for the Advancement of Science (2014) Barbara Bowman ...
Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense mutations in OCRL. ... It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, excess calcium in the urine, formation of ... Wrong OM; Norden AGW; Feest TG (1994). "Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight ...
... syndrome type Preus Oculocerebral syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome ... syndrome Ota-Kawamura-Ito syndrome Oto-palato-digital syndrome type I and II Otodental syndrome Otofaciocervical syndrome ... dysplasia OFD syndrome type 8 OFD syndrome type Figuera Ogilvie's syndrome Ohaha syndrome Ohdo-Madokoro-Sonoda syndrome ... digital syndrome Oral-pharyngeal disorders Organic brain syndrome Organic mood syndrome Organic personality syndrome ...
... menkes kinky hair syndrome MeSH C10.228.140.163.100.545 - merrf syndrome MeSH C10.228.140.163.100.640 - oculocerebrorenal ... cri-du-chat syndrome MeSH C10.597.606.643.210 - de lange syndrome MeSH C10.597.606.643.220 - down syndrome MeSH C10.597.606.643 ... guillain-barre syndrome MeSH C10.668.829.350.500 - miller fisher syndrome MeSH C10.668.829.425 - isaacs syndrome MeSH C10.668. ... mobius syndrome MeSH C10.292.562.250 - duane retraction syndrome MeSH C10.292.562.350 - miller fisher syndrome MeSH C10.292. ...
... for whom Oculocerebrorenal syndrome or Lowe syndrome was named Charles Upton, High Sheriff of Derbyshire in 1809 This ...
Menkes kinky hair syndrome MeSH C16.320.565.150.545 - MERRF syndrome MeSH C16.320.565.150.640 - oculocerebrorenal syndrome MeSH ... Möbius syndrome MeSH C16.131.077.606 - nail-patella syndrome MeSH C16.131.077.661 - oculocerebrorenal syndrome MeSH C16.131. ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... oculocerebrorenal syndrome MeSH C16.320.322.906 - Pelizaeus-Merzbacher disease MeSH C16.320.322.937 - Wiskott-Aldrich syndrome ...
... discoverer of oculocerebrorenal syndrome Charles Lowe (judge), judge of the Supreme Court of Victoria Charles Lowell ( ...
Menkes kinky hair syndrome MeSH C18.452.100.100.545 - MERRF syndrome MeSH C18.452.100.100.640 - oculocerebrorenal syndrome MeSH ... MERRF syndrome MeSH C18.452.648.151.580 - mucolipidoses MeSH C18.452.648.151.640 - oculocerebrorenal syndrome MeSH C18.452. ... Li-Fraumeni syndrome MeSH C18.452.284.600 - Nijmegen breakage syndrome MeSH C18.452.284.760 - Rothmund-Thomson syndrome MeSH ... oculocerebrorenal syndrome MeSH C18.452.648.100 - amyloidosis, familial MeSH C18.452.648.100.050 - amyloid neuropathies, ...
... oculocerebrorenal syndrome MeSH C12.777.419.815.770 - pseudohypoaldosteronism MeSH C12.777.419.912 - tuberculosis, renal MeSH ... denys-drash syndrome MeSH C12.740.700.842.425 - kallmann syndrome MeSH C12.740.700.842.454 - klinefelter syndrome MeSH C12.740. ... denys-drash syndrome MeSH C12.740.800.820.750.585.950 - wagr syndrome MeSH C12.740.800.820.750.790 - nephroma, mesoblastic MeSH ... denys-drash syndrome MeSH C12.777.419.473.585.950 - wagr syndrome MeSH C12.777.419.473.790 - nephroma, mesoblastic MeSH C12.777 ...
... ischemic syndrome Oculo-respiratory syndrome Oculoauricular syndrome Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome.[ ... cri-du-chat syndrome, Down syndrome, Patau's syndrome, trisomy 18 (Edward's syndrome), and Turner's syndrome, and in the case ... The presence of cataracts in childhood or early life can occasionally be due to a particular syndrome. Examples of chromosome ... Examples of single-gene disorder include Alport's syndrome, ... Vitreous touch syndrome is a possible complication of ...
As VWM is a member of the large group of leukodystrophy syndromes, it is often misdiagnosed as another type such as ... oculocerebrorenal) disease, or some of the mucopolysaccharidoses. Often with VWM, the lack of knowledge of the disease causes a ...
... lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Oligodactyly Pallister-Killian syndrome ... syndrome Jacobsen syndrome Katz syndrome Klinefelter syndrome Kabuki syndrome Kyphosis Larsen syndrome Laurence-Moon syndrome ... syndrome Bardet-Biedl syndrome Barth syndrome Basal-cell nevus syndrome Beckwith-Wiedemann syndrome Benjamin syndrome Bladder ... syndrome Proteus syndrome Prune belly syndrome Radial aplasia Rett syndrome Robinow syndrome Rubinstein-Taybi syndrome Saethre- ...
... syndrome Low birth weight dwarfism dysgammaglobulinemia Lowe-Kohn-Cohen syndrome Lowe oculocerebrorenal syndrome Lowe syndrome ... syndrome Long QT Syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Loose anagen hair syndrome ... syndrome Lowry syndrome Lowry-Wood syndrome Lowry-Yong syndrome LSA L-transposition and ccTGA Lubani Al Saleh Teebi syndrome ... muscular dystrophy Lindsay-Burn syndrome Lindstrom syndrome Linear hamartoma syndrome Linear nevus syndrome Lip lit syndrome ...