Lowe Oculocerebrorenal Syndrome (OCRL)

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Disease Ontology 12 DOID:1056 OMIM 56 309000 KEGG 36 H00692 MeSH 43 D009800 NCIt 49 C84940 SNOMED-CT 67 79385002 ICD10 32 E72.03

MESH via Orphanet 44 D009800 ICD10 via Orphanet 33 E72.0 UMLS via Orphanet 72 C0028860 Orphanet 58 ORPHA534 MedGen 41 C0028860 C2713392 SNOMED-CT via HPO 68 109504005 111266001 12351004 123526007 12479006 126488004 127578009 128306009 128602000 128613002 13164000 134291007 13644009 14760008 157265008 15771004 16331000 165397008 166690008 166830008 18718003 191736004 193570009 197679002 202281000 20301004 204108000 204113001 204878001 205294008 21061000119107 21186006 22066006 22450000 225595004 22640007 22810007 228156007 235595009 236423003 236468006 237836003 23986001 246545002 246635007 246799009 246920008 246923005 247053007 247546006 247578003 24790002 248004009 248062006 253883006 2556008 262016004 263029007 26597004 268029009 271737000 271771009 274093008 274521009 275478007 29738008 298181000 299330008 302215000 313307000 32958008 34095006 34436003 34713006 349006 35489007 35580009 35912001 36440009 36649002 372130007 3723001 37280007 3833004 387742006 396232000 396347007 397540003 400003000 406506008 409623005 41345002 413728006 413921009 414564002 415116008 41565005 419281007 42399005 425558002 432788009 43339004 44673006 4598005 46621007 46742003 48188009 48638002 48694002 4996001 51744007 53298000 5468008 5507002 563001 5639000 609587005 61142002 61372001 64217002 64634000 66383009 66999008 698065002 699222000 699382004 699421005 71938000 7461003 7847004 78667006 79410001 7973008 80093006 80967001 84328007 84445001 84757009 86414002 88213004 89627008 90145001 91138005 91175000 92048008 95325000 95735008 more UMLS 71 C0028860 C0812435

Genetics Home Reference : ²⁵ Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes. Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking. Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).

MalaCards based summary : Lowe Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent disease 2 and nephrocalcinosis, and has symptoms including constipation An important gene associated with Lowe Oculocerebrorenal Syndrome is OCRL (OCRL Inositol Polyphosphate-5-Phosphatase), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. The drugs Calcium and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and eye, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : ¹² A X-linked recessive disease that has material basis in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.

NIH Rare Diseases : ⁵² Lowe oculocerebrorenal syndrome is a rare condition that primarily affects the eyes, central nervous system and kidneys. Some of the signs and symptoms associated with the condition are often present from birth, including congenital cataracts and other eye abnormalities; hypotonia (reduced muscle tone); and feeding difficulties. Affected people may also experience kidney problems (such as Fanconi syndrome ), infantile glaucoma , impaired vision, developmental delay , intellectual disability , behavioral problems, seizures and short stature . Lowe oculocerebrorenal syndrome occurs almost exclusively in males. The condition is caused by changes (mutations ) in the OCRL and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.

KEGG : ³⁶ Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by mutations in the OCRL1 gene which encodes the phosphatidylinositol enzyme (4, 5) biphosphate 5-phosphatase present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities.

UniProtKB/Swiss-Prot : ⁷³ Lowe oculocerebrorenal syndrome: X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.

Wikipedia : ⁷⁴ Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

More information from OMIM: 309000

GeneReviews: NBK1480

Clinical features from OMIM:

309000

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-2	10.22	GALK1
2	Decreased viability	GR00240-S-1	10.22	GALK1
3	Decreased viability	GR00381-A-1	10.22	ARHGAP1
4	Decreased viability	GR00402-S-2	10.22	ARHGAP1 CFAP47 CLCN5 CRYAA GALK1 HYDIN
5	no effect	GR00402-S-1	9.62	ARHGAP1 CFAP47 CLCN5 CRYAA GALK1 HYDIN
6	Increased Erk phosphorylation after EGF stimulation	GR00204-A-1	8.96	INPP5A INPP5E

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