Oculocerebrorenal syndrome

Oculocerebrorenal syndrome
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Oculocerebrorenal_syndrome".

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Oculocerebrorenal syndrome Classification and external resources
ICD-10	E 72.0
ICD-9	270.8
OMIM	309000
DiseasesDB	29146
eMedicine	oph/516
MeSH	D009800

Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

It is associated with the gene OCRL.

Lowe syndrome can be considered a cause of Fanconi syndrome.¹

Eponym

It is named for Charles Upton Lowe.²³

References

^ Vilasi A, Cutillas PR, Maher AD, et al (August 2007). "Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome". Am. J. Physiol. Renal Physiol. 293 (2): F456–67. doi:10.1152/ajprenal.00095.2007. PMID 17494094, http://ajprenal.physiology.org/cgi/pmidlookup?view=long&pmid=17494094.
^ synd/3512 at Who Named It
^ Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children 83 (2): 164–84. PMID 14884753.

External links

v • d • e

Inborn errors of amino acid metabolism (E70-72, 270)

Lysine/straight chain	Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria

Leucine	Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

G→pyruvate

Glycine

Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency

G→alpha-ketoglutarate

Glutamate/glutamine	SSADHD

Proline	Hyperprolinemia - Prolidase deficiency

Histidine	Carnosinemia - Histidinemia - Urocanic aciduria

G→succinyl-CoA


Methionine	Hypermethioninemia - Homocystinuria - Cystathioninuria

Valine	Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency

Isoleucine	Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency

General BC/OA	Propionic acidemia - Methylmalonic acidemia

G→fumarate


Phenylalanine/tyrosine	Phenylketonuria: Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia: Type II tyrosinemia - Type III tyrosinemia/Hawkinsinuria - Alkaptonuria/Ochronosis - Type I tyrosinemia

G→oxaloacetate


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

Transport

Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome)

Tyrosine→Melanin

Albinism: Ocular albinism (1) - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome

Glycine→Creatine

GAMT deficiency

Other

Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency

see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates

v • d • e Sex linkage: X-linked recessive disorders

Immune	Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked Severe Combined Immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX

Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia · X-linked lymphoproliferative disease

Endocrine	Androgen insensitivity syndrome/Kennedy disease · Diabetes insipidus

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

Nervous system	X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X syndrome · MASA syndrome · Rett 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

Skin	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis

Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy · Myotubular myopathy · Conradi-Hünermann syndrome

Urologic	Alport syndrome · Dent's disease

No primary system	Barth syndrome · McLeod syndrome · Simpson-Golabi-Behmel syndrome

Note: there are very few X-linked dominant disorders. These include X-linked hypophosphatemia, Focal dermal hypoplasia, Aicardi syndrome, Incontinentia pigmenti, and CHILD.

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