OCR
MCID: OCL005
MIFTS: 61

Oculocerebrorenal Syndrome (OCR) malady

Neuronal, Eye, Nephrological, Metabolic, Fetal categories

Summaries for Oculocerebrorenal Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.

MalaCards: Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to aminoaciduria and fanconi syndrome, and has symptoms including frontal bossing/prominent forehead, low set ears/posteriorly rotated ears and genu valgum. An important gene associated with Oculocerebrorenal Syndrome is OCRL (oculocerebrorenal syndrome of Lowe), and among its related pathways are Synthesis of PIPs at the early endosome membrane and Rho GTPase cycle. The compounds inositol 1,3,4,5-tetrakisphosphate and inositol 1,4,5 trisphosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

Wikipedia:64 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

Description from OMIM:47 309000

GeneReviews summary for lowe

Aliases & Classifications for Oculocerebrorenal Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
lowe syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

oculocerebrorenal syndrome 8 19 43 21 10 49 61
lowe syndrome 8 9 19 43 20 22 21 47 45 49
oculocerebrorenal syndrome of lowe 8 19 21
lowe oculocerebrorenal syndrome 8 43 21
ocrl 43 49
phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency 43
phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency 21
phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency 49
lowe oculo-cerebro-renal syndrome 49
chromosome 11p deletion syndrome 61
oculo-cerebro-renal dystrophy 49
oculo-cerebro-renal syndrome 49
oculocerebrorenal dystrophy 49
cerebrooculorenal syndrome 21
lowe disease 49
ocrl1 43
ocr 49


External Ids:

Disease Ontology8 DOID:1056
OMIM47 309000
NCIt40 C84940
SNOMED-CT57 79385002
MeSH35 D009800
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet58 79385002

Related Diseases for Oculocerebrorenal Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Oculocerebrorenal Syndrome:



Diseases related to oculocerebrorenal syndrome

Clinical Features for Oculocerebrorenal Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

309000

Clinical synopsis from OMIM:

309000

Symptoms:

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

Drugs & Therapeutics for Oculocerebrorenal Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Oculocerebrorenal Syndrome

Drug clinical trials:

Search ClinicalTrials for Oculocerebrorenal Syndrome

Search NIH Clinical Center for Oculocerebrorenal Syndrome

Search CenterWatch for Oculocerebrorenal Syndrome

Genetic Tests for Oculocerebrorenal Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Oculocerebrorenal Syndrome:

id Genetic test Affiliating Genes
1 Lowe Syndrome20 22 OCRL

Anatomical Context for Oculocerebrorenal Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Oculocerebrorenal Syndrome:

33
Skin, Brain, Kidney

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3ARHGAP1, PI4K2A, OCRL, GRB2, CLCN5, INPP5B
2MP:00053767.7PI4K2A, OCRL, GRB2, CLCN5, INPP5K, INPPL1
3MP:00053787.1ASPM, ARHGAP1, PI4K2A, SYNJ1, OCRL, GRB2
4MP:00107686.2ARHGAP1, PI4K2A, SYNJ1, OCRL, GRB2, INPP5A

Publications for Oculocerebrorenal Syndrome

Sources:
51PubMed
See all sources

Articles related to Oculocerebrorenal Syndrome:

(show all 49)
idTitleAuthorsYear
1
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. (24217083)
2013
2
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. (23805271)
2013
3
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe. (23549725)
2013
4
Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. (22351770)
2012
5
Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies. (19217010)
2009
6
Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life. (19547830)
2009
7
Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. (17621522)
2007
8
Glaucoma with the oculocerebrorenal syndrome of Lowe. (15870597)
2005
9
What's your diagnosis? Oculocerebrorenal syndrome of Lowe. (16250214)
2005
10
Cataracts and glaucoma in patients with oculocerebrorenal syndrome. (12963605)
2003
11
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
12
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (9632163)
1998
13
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (9199559)
1997
14
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. (9116424)
1997
15
MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. (8703232)
1996
16
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. (7869519)
1995
17
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. (8599350)
1995
18
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. (7573041)
1995
19
Lesions in oculocerebrorenal syndrome. (7847233)
1994
20
Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. (7516514)
1994
21
MR findings in oculocerebrorenal syndrome. (8456727)
1993
22
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (8504307)
1993
23
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. (8488875)
1993
24
The oculocerebrorenal syndrome of Lowe. (8325732)
1993
25
Radiological cases of the month. Lowe (oculocerebrorenal) syndrome. (1384308)
1992
26
Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. (1594319)
1992
27
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. (1321346)
1992
28
The oculocerebrorenal syndrome of Lowe. (1927708)
1991
29
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. (2017228)
1991
30
Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state. (2028753)
1991
31
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. (1897526)
1991
32
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. (2081601)
1990
33
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
34
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. (2895982)
1988
35
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. (2878939)
1987
36
Oculocerebrorenal syndrome: case report with CT and MR correlates. (3111218)
1987
37
Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome. (3958170)
1986
38
Mitochondrial defects in Lowe's oculocerebrorenal syndrome. (6691827)
1984
39
Arthropathy of Lowe's (oculocerebrorenal) syndrome. (6860374)
1983
40
A new variant of Lowe oculocerebrorenal syndrome. (7256724)
1980
41
Renal transport of amino acids in children with oculocerebrorenal syndrome. (669970)
1978
42
Haematological studies in a case of oculocerebrorenal syndrome. (856773)
1977
43
Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. (953206)
1976
44
Nutritional investigations in the oculocerebrorenal syndrome of Lowe. (4480430)
1974
45
Oculocerebrorenal syndrome. (Lowe syndrome). (4639225)
1972
46
Renal function and morphology in a girl with oculocerebrorenal syndrome. (5450274)
1970
47
Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. (5763831)
1969
48
Oculocerebrorenal syndrome of Lowe. A case report. (6022734)
1967
49
Oculocerebrorenal syndrome in a female child. (4951545)
1967

Genetic Variations for Oculocerebrorenal Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Expression for genes affiliated with Oculocerebrorenal Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Oculocerebrorenal Syndrome

Search GEO for disease gene expression data for Oculocerebrorenal Syndrome.

Pathways for genes affiliated with Oculocerebrorenal Syndrome

Sources:
54Reactome, 4Cell Signaling Technology, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0OCRL, PI4K2A
2
Hide members
9.7INPP5B, OCRL, ARHGAP1
39.7OCRL, INPPL1, INPP5D
49.7INPPL1, GRB2
59.3INPP5D, INPPL1, GRB2
6
Hide members
9.3GRB2, INPPL1, INPP5D
7
Hide members
9.2INPP5K, INPPL1, INPP5D, INPP5J, INPP5E
8
Hide members
9.1OCRL, SYNJ1, SYNJ2, PI4K2A
9
Hide members
8.1INPP5A, INPP5K, INPPL1, INPP5B, INPP5D, INPP5J
10
Hide members
8.0SYNJ1, OCRL, INPP5A, INPPL1, INPP5B, INPP5D
11
Hide members
7.8PI4K2A, SYNJ2, SYNJ1, OCRL, INPP5K, INPPL1
12
Hide members
7.0INPP5J, INPP5D, INPP5B, INPPL1, INPP5K, INPP5A
13
Hide members
6.7INPP5E, PI4K2A, INPP5J, INPP5D, INPP5B, INPPL1

Compounds for genes affiliated with Oculocerebrorenal Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1inositol 1,3,4,5-tetrakisphosphate45 1110.4OCRL, INPP5K, INPPL1, INPP5D, INPP5J
2inositol 1,4,5 trisphosphate459.2INPP5J, INPP5A, OCRL
3phosphatidylinositol-3,4,5-trisphosphate45 249.7GRB2, INPP5K, INPPL1, INPP5D, INPP5J, INPP5E
4phosphotyrosine458.7GRB2, INPPL1, INPP5D, RAB6A
5gtp45 299.4RAB6A, GRB2, ARHGAP1, COPB1
6phosphoinositide458.2SYNJ1, GRB2, INPPL1, INPP5D, INPP5J, RAB6A
7inositol458.2INPP5E, SYNJ1, OCRL, GRB2, INPP5K, INPPL1
8lipid457.7SYNJ1, OCRL, GRB2, INPP5K, INPPL1, INPP5D
9tyrosine457.6ARHGAP1, SYNJ1, GRB2, INPPL1, INPP5D, INPP5J
10phosphatidylinositol457.5PI4K2A, SYNJ1, OCRL, GRB2, INPP5K, INPPL1

GO Terms for genes affiliated with Oculocerebrorenal Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi-associated vesicleGO:0057989.9OCRL, COPB1
2ruffleGO:0017269.7ARHGAP1, INPP5K, INPP5J
3trans-Golgi networkGO:0058029.2OCRL, INPP5K, RAB6A
4Golgi membraneGO:0001398.8COG4, COPB1, CLCN5, RAB6A, RAB2B, GOLGA5
5Golgi apparatusGO:0057948.7GOLGA5, RAB6A, INPP5B, INPPL1, GRB2
6membraneGO:0160207.7SYNJ2, CLCN5, INPP5A, INPP5K, INPP5B, INPP5D
7plasma membraneGO:0058867.0COPB1, ARHGAP1, OCRL, GRB2, INPP5A, INPP5K
8cytosolGO:0058295.9RAB6A, COPB1, ARHGAP1, PI4K2A, SYNJ2, SYNJ1

Biological processes related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1ruffle assemblyGO:09717810.1INPPL1, INPP5K
2inositol phosphate dephosphorylationGO:04685510.1INPP5E, INPP5K
3negative regulation of neuron projection developmentGO:01097710.0INPP5J, INPPL1
4negative regulation of peptidyl-serine phosphorylationGO:03313710.0INPP5J, INPP5K
5phosphate-containing compound metabolic processGO:0067969.7SYNJ1, INPP5D
6negative regulation of insulin receptor signaling pathwayGO:0466279.7INPPL1, INPP5K
7regulation of small GTPase mediated signal transductionGO:0510569.6INPP5B, OCRL, ARHGAP1
8retrograde vesicle-mediated transport, Golgi to ERGO:0068909.6COG4, COPB1, RAB6A
9small GTPase mediated signal transductionGO:0072649.1ARHGAP1, OCRL, INPP5B, RAB6A, RAB2B
10inositol phosphate metabolic processGO:0436478.2SYNJ1, OCRL, INPP5A, INPPL1, INPP5B, INPP5D
11phosphatidylinositol biosynthetic processGO:0066618.1INPP5J, INPP5D, INPPL1, INPP5K, OCRL, SYNJ1
12phospholipid metabolic processGO:0066448.1PI4K2A, SYNJ2, SYNJ1, OCRL, INPP5K, INPPL1
13phosphatidylinositol dephosphorylationGO:0468567.3INPP5E, SYNJ2, INPP5J, INPP5D, INPP5B, INPPL1
14small molecule metabolic processGO:0442816.9PI4K2A, SYNJ2, SYNJ1, OCRL, INPP5A, INPP5K

Molecular functions related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1Rac GTPase activator activityGO:03067510.0OCRL, ARHGAP1
2phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activityGO:0344859.9INPP5J, INPP5K
3phosphatidylinositol trisphosphate phosphatase activityGO:0345949.7INPP5D, INPP5K
4inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activityGO:0526599.2INPP5J, INPP5K, INPP5A
5phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:0044399.2SYNJ2, SYNJ1, OCRL, INPP5B, INPP5E
6inositol-1,4,5-trisphosphate 5-phosphatase activityGO:0526589.0INPP5A, INPP5K, INPP5B, INPP5J
7SH3 domain bindingGO:0171248.8ARHGAP1, GRB2, INPPL1, INPP5D, INPP5J
8inositol-polyphosphate 5-phosphatase activityGO:0044458.1INPP5E, INPP5J, INPP5D, INPPL1, INPP5K, INPP5A
9protein bindingGO:0055155.3SYNJ2, PI4K2A, ARHGAP1, COPB1, COG4, OCRL

Products for genes affiliated with Oculocerebrorenal Syndrome

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Sources for Oculocerebrorenal Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet