MCID: OCL005
MIFTS: 45

Oculocerebrorenal Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Oculocerebrorenal Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 51Orphanet, 12DISEASES, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Oculocerebrorenal Syndrome:

Name: Oculocerebrorenal Syndrome 10 45 12 51 65 36
Lowe Syndrome 10 45 51
Lowe Oculocerebrorenal Syndrome 10 45
Ocrl 45 51
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 45
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 51
Oculocerebrorenal Syndrome of Lowe 10
Lowe Oculo-Cerebro-Renal Syndrome 51
 
Chromosome 11p Deletion Syndrome 65
Oculo-Cerebro-Renal Dystrophy 51
Oculo-Cerebro-Renal Syndrome 51
Oculocerebrorenal Dystrophy 51
Lowe Disease 51
Ocrl1 45
Ocr 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
oculocerebrorenal syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adult


External Ids:

Disease Ontology10 DOID:1056
MeSH36 D009800
NCIt42 C84940
Orphanet51 534
SNOMED-CT59 79385002
ICD10 via Orphanet28 E72.0
MESH via Orphanet37 D009800
UMLS via Orphanet66 C0028860

Summaries for Oculocerebrorenal Syndrome

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MalaCards based summary: Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to lowe syndrome and cystinuria, and has symptoms including pupillary anomalies/mydriasis/myosis/tonic pupil, cataract/lens opacification and visual loss/blindness/amblyopia. An important gene associated with Oculocerebrorenal Syndrome is OCRL (Oculocerebrorenal Syndrome Of Lowe), and among its related pathways are PI Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include skin, kidney and testes, and related mouse phenotypes are growth/size/body and mortality/aging.

Related Diseases for Oculocerebrorenal Syndrome

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Diseases related to Oculocerebrorenal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1lowe syndrome10.6
2cystinuria10.4
3cataract10.3
4arthritis10.2
5rheumatoid arthritis10.1
6osteoarthritis10.1
7renal tubular dysgenesis10.1
8anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.1
9adult syndrome10.1
10miller syndrome10.1
11child syndrome10.1
12muscle disorders10.1
13foster-kennedy syndrome10.1
14pericoronitis10.1
15primary hyperoxaluria10.1
16nephrocalcinosis10.1
17metabolic syndrome x10.1
18amino acid metabolic disorder10.1
19arthropathy10.1
20congenital nervous system abnormality10.1
21globe disease10.1
22kidney disease10.1
23lens disease10.1
24muscle tissue disease10.1
25myopathy10.1
26optic nerve disease10.1
27prion disease10.1
28renal tubular transport disease10.1
29specific developmental disorder10.1
30urinary system disease10.1
31x-linked disease10.1
32developmental disabilities10.1
33genetic brain disorders10.1
34familial partial paralysis10.1
35inborn amino acid metabolism disorder10.1
36kid syndrome10.1
37muscle eye brain disease10.1
38encephalopathy10.1
39cataract - nephropathy - encephalopathy10.1
40joint disorders10.1
41dent disease10.0
42nephrolithiasis, type i10.0INPP5E, OCRL
43autoimmune disease 210.0
44autoimmune disease 310.0
45autoimmune disease of musculoskeletal system10.0
46gamma chain deficiency10.0
47connective tissue disease10.0
48enthesopathy10.0
49hypersensitivity reaction type ii disease10.0
50multiple sclerosis, disease progression, modifier of10.0

Graphical network of the top 20 diseases related to Oculocerebrorenal Syndrome:



Diseases related to oculocerebrorenal syndrome

Symptoms for Oculocerebrorenal Syndrome

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Symptoms:

 51 (show all 122)
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • nystagmus
  • abnormal cry/voice/phonation disorder/nasal speech
  • renal glomerular defect/glomerulopathy
  • renal tubular defect/tubulopathy
  • renal failure
  • proteinuria
  • tics/stereotypias
  • hypotonia
  • areflexia/hyporeflexia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • hyponatremia
  • hypercalciuria
  • aminoacid metabolism anomalies/aminoaciduria
  • x-linked recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death in adulthood
  • dehydration/hydroelectrolytic loss
  • frontal bossing/prominent forehead
  • broad cheeks/cherub-like/cherubin face
  • long face
  • deepset eyes/enophthalmos
  • glaucoma
  • buphthalmos
  • low set ears/posteriorly rotated ears
  • prominent/bat ears
  • scoliosis
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • skin tumors/lumps/epidermal cysts
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • constipation
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hyperparathyroidy
  • dilated cerebral ventricles without hydrocephaly
  • eeg anomalies
  • myoclonus/fasciculations
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperactivity/attention deficit
  • obsessive-compulsive disorder
  • auto-aggressivity/auto-mutilation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • hydrarthrosis/articular/joint effusion
  • arthritis/synovitis/synovial proliferation
  • hyperextensible joints/articular hyperlaxity
  • thrombocytopenia/thrombopenia
  • metabolic decompensation
  • hypokalemia
  • phosphocalcic metabolism anomalies
  • vitamin d deficiency
  • benign tumor of the brain/nervous system
  • brachycephaly/flat occiput
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • prognathism/prognathia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • dental malocclusion
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • corneal clouding/opacity/vascularisation
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • retinal/chorioretinal dysplasia/dystrophy
  • strabismus/squint
  • defect/anomaly of lacrimal system
  • thin/retracted lips
  • protruding lips
  • mouth held open
  • long philtrum
  • philtrum deeply grooved
  • oral mucosa disease/cheilitis
  • gingivitis
  • high vaulted/narrow palate
  • anomalies of teeth and dentition
  • taurodontia
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • enamel anomaly
  • dentine anomaly
  • multiple caries
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • dental cysts/tumors
  • alveolysis/paraodontitis
  • chronic/relapsing otitis
  • rib structure anomalies
  • kyphosis
  • platyspondyly
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • genu valgum
  • abnormal scarring/cheloids/hypertrophic scars
  • chronic skin infection/ulcerations/ulcers/cancrum
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • malabsorption/chronic diarrhea/steatorrhea
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • atelectasia/pulmonary collapse
  • repeat respiratory infections
  • polycystic kidneys
  • renal/kidney calcifications/nephrocalcinosis
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • hematuria/microhematuria
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • azoospermia/oligospermia/asthenospermia
  • diabetes insipidus
  • hyperaldosteronism
  • late puberty/hypogonadism/hypogenitalism
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • metaphyseal anomaly
  • epiphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • patella dislocation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • anaemia
  • hypoammonemia
  • hypophosphatemia
  • oligosacchariduria
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia

Drugs & Therapeutics for Oculocerebrorenal Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Analysis of Oculocerebrorenal Syndrome of LoweCompletedNCT00359515
2Study of the Pathophysiological Mechanisms Involved in Bleeding EventsCompletedNCT01314560
3Dent Disease Mutation GenotypingCompletedNCT01783795
4Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

Search NIH Clinical Center for Oculocerebrorenal Syndrome


Cochrane evidence based reviews: Oculocerebrorenal Syndrome

Genetic Tests for Oculocerebrorenal Syndrome

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Anatomical Context for Oculocerebrorenal Syndrome

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MalaCards organs/tissues related to Oculocerebrorenal Syndrome:

33
Skin, Kidney, Testes, Eye, Bone, Lung, Brain

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.5HYDIN, INPP5B, INPP5E, INPPL1, OCRL, SYNJ1
2MP:00107687.2HYDIN, INPP5B, INPP5E, INPPL1, OCRL, SYNJ1

Publications for Oculocerebrorenal Syndrome

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Articles related to Oculocerebrorenal Syndrome:

(show all 50)
idTitleAuthorsYear
1
Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe. (25426219)
2014
2
Whata89s your diagnosis? Infantile glaucoma. . .and discoid cataracts. Oculocerebrorenal syndrome of Lowe. (25062135)
2014
3
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. (24217083)
2013
4
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. (23805271)
2013
5
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe. (23549725)
2013
6
Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. (22351770)
2012
7
Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies. (19217010)
2009
8
Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life. (19547830)
2009
9
Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. (17621522)
2007
10
Glaucoma with the oculocerebrorenal syndrome of Lowe. (15870597)
2005
11
What's your diagnosis? Oculocerebrorenal syndrome of Lowe. (16250214)
2005
12
Cataracts and glaucoma in patients with oculocerebrorenal syndrome. (12963605)
2003
13
Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. (10767176)
2000
14
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (9632163)
1998
15
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (9199559)
1997
16
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. (9116424)
1997
17
MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. (8703232)
1996
18
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. (7869519)
1995
19
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. (8599350)
1995
20
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. (7573041)
1995
21
Lesions in oculocerebrorenal syndrome. (7847233)
1994
22
Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. (7516514)
1994
23
MR findings in oculocerebrorenal syndrome. (8456727)
1993
24
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (8504307)
1993
25
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. (8488875)
1993
26
The oculocerebrorenal syndrome of Lowe. (8325732)
1993
27
Radiological cases of the month. Lowe (oculocerebrorenal) syndrome. (1384308)
1992
28
Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. (1594319)
1992
29
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. (1321346)
1992
30
The oculocerebrorenal syndrome of Lowe. (1927708)
1991
31
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. (2017228)
1991
32
Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state. (2028753)
1991
33
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. (1897526)
1991
34
Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. (2912070)
1989
35
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. (2895982)
1988
36
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. (2878939)
1987
37
Oculocerebrorenal syndrome: case report with CT and MR correlates. (3111218)
1987
38
Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome. (3958170)
1986
39
Mitochondrial defects in Lowe's oculocerebrorenal syndrome. (6691827)
1984
40
Arthropathy of Lowe's (oculocerebrorenal) syndrome. (6860374)
1983
41
A new variant of Lowe oculocerebrorenal syndrome. (7256724)
1980
42
Renal transport of amino acids in children with oculocerebrorenal syndrome. (669970)
1978
43
Haematological studies in a case of oculocerebrorenal syndrome. (856773)
1977
44
Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. (953206)
1976
45
Nutritional investigations in the oculocerebrorenal syndrome of Lowe. (4480430)
1974
46
Oculocerebrorenal syndrome. (Lowe syndrome). (4639225)
1972
47
Renal function and morphology in a girl with oculocerebrorenal syndrome. (5450274)
1970
48
Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. (5763831)
1969
49
Oculocerebrorenal syndrome of Lowe. A case report. (6022734)
1967
50
Oculocerebrorenal syndrome in a female child. (4951545)
1967

Variations for Oculocerebrorenal Syndrome

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Clinvar genetic disease variations for Oculocerebrorenal Syndrome:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1OCRLOCRL, 112-BP DELdeletionPathogenic
2OCRLNM_000276.3(OCRL): c.2530C> T (p.Arg844Ter)single nucleotide variantPathogenicrs387906484GRCh37Chr X, 128723882: 128723882
3OCRLNM_000276.3(OCRL): c.1499G> A (p.Arg500Gln)single nucleotide variantPathogenicrs137853260GRCh37Chr X, 128703273: 128703273
4OCRLNM_000276.3(OCRL): c.1572C> G (p.His524Gln)single nucleotide variantPathogenicrs137853261GRCh37Chr X, 128703346: 128703346
5OCRLNM_000276.3(OCRL): c.952C> T (p.Arg318Cys)single nucleotide variantLikely pathogenic, Pathogenicrs137853263GRCh37Chr X, 128696373: 128696373
6OCRLNM_000276.3(OCRL): c.1505T> C (p.Leu502Pro)single nucleotide variantLikely pathogenicrs794727137GRCh37Chr X, 128703279: 128703279
7OCRLNM_000276.3(OCRL): c.1714-1G> Asingle nucleotide variantPathogenicrs794727182GRCh37Chr X, 128709873: 128709873
8OCRLNM_000276.3(OCRL): c.2299C> T (p.Gln767Ter)single nucleotide variantPathogenicrs794727333GRCh37Chr X, 128722198: 128722198
9OCRLundetermined variantPathogenic
10OCRLNG_008638.1: g.(16327)_24584deldeletionPathogenic
11OCRLNG_008638.1: g.23614_27859del4246deletionPathogenic
12OCRLNM_000276.3(OCRL): c.-165-?_*2286+?deldeletionPathogenic
13OCRLundetermined variantPathogenic
14OCRLNM_000276.3(OCRL): c.-165-?_199+?deldeletionPathogenic
15OCRLNM_000276.3(OCRL): c.-165-?_238+?deldeletionPathogenic
16NC_000023.11: g.(?_126549383)_(129592556_?)deldeletionPathogenicGRCh38Chr X, 126549383: 129592556
17OCRLNM_000276.3(OCRL): c.2563delG (p.Val855Serfs)deletionPathogenicrs398123288GRCh37Chr X, 128723915: 128723915
18OCRLNM_000276.3(OCRL): c.2582-1G> Asingle nucleotide variantPathogenicrs398123289GRCh37Chr X, 128724122: 128724122
19OCRLNM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs)deletionPathogenicrs398123290GRCh37Chr X, 128695240: 128695241

Expression for genes affiliated with Oculocerebrorenal Syndrome

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Search GEO for disease gene expression data for Oculocerebrorenal Syndrome.

Pathways for genes affiliated with Oculocerebrorenal Syndrome

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Pathways related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.4INPP5E, INPPL1, OCRL, SYNJ1
2
Show member pathways
8.4INPP5E, INPPL1, OCRL, SYNJ1
3
Inositol phosphate metabolism (REACTOME)
Show member pathways
8.3INPP5E, INPPL1, OCRL, SYNJ1
4
Inositol phosphate metabolism (KEGG)
Show member pathways
8.0INPP5E, INPPL1, OCRL, SYNJ1
58.0INPP5B, INPP5E, INPPL1, OCRL, SYNJ1

GO Terms for genes affiliated with Oculocerebrorenal Syndrome

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Cellular components related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1early endosome membraneGO:00319019.9INPP5B, OCRL
2phagocytic vesicle membraneGO:00306709.8INPP5B, OCRL
3Golgi membraneGO:00001399.0COG4, GOLGA5, INPP5E

Biological processes related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1inositol phosphate dephosphorylationGO:004685510.2INPP5E, SYNJ1
2phosphatidylinositol metabolic processGO:004648810.0INPP5E, SYNJ1
3Golgi organizationGO:00070309.8COG4, GOLGA5
4Golgi vesicle transportGO:00481939.7COG4, GOLGA5
5retrograde transport, vesicle recycling within GolgiGO:00003019.6COG4, GOLGA5
6phosphatidylinositol biosynthetic processGO:00066618.9INPP5E, INPPL1, OCRL, SYNJ1
7inositol phosphate metabolic processGO:00436478.9INPP5B, INPPL1, OCRL, SYNJ1
8protein dephosphorylationGO:00064708.8INPP5B, INPP5E, OCRL, SYNJ1
9phospholipid metabolic processGO:00066448.8INPP5E, INPPL1, OCRL, SYNJ1
10phosphatidylinositol dephosphorylationGO:00468568.5INPP5B, INPP5E, INPPL1, OCRL, SYNJ1
11small molecule metabolic processGO:00442817.7INPP5B, INPP5E, INPPL1, OCRL, SYNJ1

Molecular functions related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inositol-polyphosphate 5-phosphatase activityGO:00044459.9INPP5E, SYNJ1
2SH3 domain bindingGO:00171249.1INPPL1, SYNJ1
3phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00044399.1INPP5B, INPP5E, OCRL, SYNJ1

Sources for Oculocerebrorenal Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet