Oculocerebrorenal syndrome

Oculocerebrorenal syndrome

Oculocerebrorenal syndrome is X-linked recessive
Classification and external resources
ICD-10	E72.0
ICD-9-CM	270.8
OMIM	309000
DiseasesDB	29146
eMedicine	oph/516
MeSH	D009800
GeneReviews	Lowe Syndrome
Orphanet	534

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria, and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium, and sodium^[1]).^[2]^[3]

Signs/symptoms

Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people.^[4] Boys with Lowe syndrome are born with cataracts in both eyes, glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, many affected boys develop kidney problems at about one year of age.^[5] Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine, this problem, is known as Fanconi-type renal tubular dysfunction.

Genetics

Fibroblasts

This syndrome is caused by mutations in the OCRL1 gene which encodes a inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab binding domain.^[6]^[7]

This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells.^[7] About 120 mutations are associated with this condition and OCRL gene which is associated with oculocerebrorenal syndrome^[8]

Diagnosis

Diagnosis of oculocerebrorenal syndrome can be done via genetic testing^[9] Among the different investigations that can de done are:^[10]

Treatment

Potassium citrate

In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:^[11]

History

It was first described in 1952 by Charles Lowe and colleagues at the Massachusetts General Hospital in Boston.^[12] Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as oculocerebrorenal syndrome.^[5]

Eponym

The condition is named after Charles Upton Lowe (August 24, 1921 – February 9, 2012 ).^[13]^[14]

References

↑ "Fanconi syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2016-12-21.
↑ Lewis, Richard Alan; Nussbaum, Robert L.; Brewer, Eileen D. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C., eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID 20301653. update 2012
↑ "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL". omim.org. Retrieved 21 December 2016.
↑ Loi M (2006). "Lowe Syndrome". Orphanet Journal of Rare Diseases. 1: 16. doi:10.1186/1750-1172-1-16.
1 2 "Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology". 2016-06-01.
↑ Hagemann, Nina; Hou, Xiaomin; Goody, Roger S.; Itzen, Aymelt; Erdmann, Kai S. (2017-06-01). "Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome". Small GTPases. 3 (2): 107–110. ISSN 2154-1256. PMID 22790198. doi:10.4161/sgtp.19380.
1 2 Reference, Genetics Home. "Lowe syndrome". Genetics Home Reference. Retrieved 21 December 2016.
↑ Reference, Genetics Home. "OCRL gene". Genetics Home Reference. Retrieved 21 December 2016.
↑ "Lowe syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016.
↑ "Lowe's (Oculo-Cerebro-Renal) Syndrome | Doctor | Patient". Patient. Retrieved 21 December 2016.
↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December 2016.
↑ Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". AMA American Journal of Diseases of Children. 83 (2): 164–84. PMID 14884753. doi:10.1001/archpedi.1952.02040060030004.
↑ Kelly, Evelyn B. (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. ISBN 9780313387142. Retrieved 21 December 2016.
↑ Loring, David W.; Bowden, Stephen (2015). INS Dictionary of Neuropsychology and Clinical Neurosciences. Oxford University Press, Incorporated. ISBN 9780195366457. Retrieved 21 December 2016.

Lysine/straight chain	Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria
Leucine	3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease
Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine	D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine→Creatine: GAMT deficiency Glycine encephalopathy

G→glutamate→
α-ketoglutarate

Histidine	Carnosinemia Histidinemia Urocanic aciduria
Proline	Hyperprolinemia Prolidase deficiency
Glutamate/glutamine	SSADHD

G→propionyl-CoA→
succinyl-CoA

Valine	Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease
Isoleucine	2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease
Methionine	Cystathioninuria Homocystinuria Hypermethioninemia
General BC/OA	Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia

G→fumarate

Phenylalanine/tyrosine

Phenylketonuria	6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency
Tyrosinemia	Alkaptonuria/Ochronosis Type I tyrosinemia Type II tyrosinemia Type III tyrosinemia/Hawkinsinuria
Tyrosine→Melanin	Albinism: Ocular albinism (1) Oculocutaneous albinism (Hermansky–Pudlak syndrome) Waardenburg syndrome
Tyrosine→Norepinephrine	Dopamine beta hydroxylase deficiency reverse: Brunner syndrome

G→oxaloacetate

Urea cycle/Hyperammonemia (arginine aspartate)	Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency/translocase deficiency

Transport/
IE of RTT

Other

Sex linkage: X-linked disorders

X-linked recessive
Immune	Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency
Hematologic	Haemophilia A Haemophilia B X-linked sideroblastic anemia
Endocrine	Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita
Metabolic	Amino acid: Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia: Adrenoleukodystrophy Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder: Fabry's disease Mucopolysaccharidosis: Hunter syndrome Purine–pyrimidine metabolism: Lesch–Nyhan syndrome Mineral: Menkes disease/Occipital horn syndrome
Nervous system	X-linked mental retardation: Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism (1) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2
Skin and related tissue	Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy
Neuromuscular	Becker's muscular dystrophy/Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1
Urologic	Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus
Bone/tooth	AMELX Amelogenesis imperfecta
No primary system	Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome

X-linked dominant
X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia

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