MCID: OCL005
MIFTS: 51

Oculocerebrorenal Syndrome malady

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

Summaries for Oculocerebrorenal Syndrome

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Wikipedia:63 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

MalaCards based summary: Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to lowe syndrome and nephrocalcinosis, and has symptoms including renal insufficiency, abnormality of the renal tubule and proteinuria. An important gene associated with Oculocerebrorenal Syndrome is OCRL (oculocerebrorenal syndrome of Lowe), and among its related pathways are Phosphatases and Inositol phosphate metabolism. The compounds Inositol 1,3,4-trisphosphate and 1D-Myo-inositol 1,4-bisphosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and eye, and related mouse phenotypes are craniofacial and growth/size/body.

Aliases & Classifications for Oculocerebrorenal Syndrome

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Sources:
9Disease Ontology, 11DISEASES, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Oculocerebrorenal Syndrome, Aliases & Descriptions:

Name: Oculocerebrorenal Syndrome 9 11 47 60
Lowe Syndrome 9 47
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 47
Oculocerebrorenal Syndrome of Lowe 9
Lowe Oculo-Cerebro-Renal Syndrome 47
Chromosome 11p Deletion Syndrome 60
Lowe Oculocerebrorenal Syndrome 9
 
Oculo-Cerebro-Renal Dystrophy 47
Oculo-Cerebro-Renal Syndrome 47
Oculocerebrorenal Dystrophy 47
Lowe Disease 47
Ocrl 47
Ocr 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
oculocerebrorenal syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adult


External Ids:

Disease Ontology9 DOID:1056
MeSH33 D009800
NCIt38 C84940
Orphanet47 534
SNOMED-CT55 79385002
MESH via Orphanet34 D009800
ICD10 via Orphanet26 E72.0
UMLS via Orphanet61 C0028860

Related Diseases for Oculocerebrorenal Syndrome

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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:

 47 (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

HPO human phenotypes related to Oculocerebrorenal Syndrome:

(show all 107)
id Description Frequency HPO Source Accession
1 renal insufficiency hallmark (90%) HP:0000083
2 abnormality of the renal tubule hallmark (90%) HP:0000091
3 proteinuria hallmark (90%) HP:0000093
4 visual impairment hallmark (90%) HP:0000505
5 cataract hallmark (90%) HP:0000518
6 abnormality of the pupil hallmark (90%) HP:0000615
7 nystagmus hallmark (90%) HP:0000639
8 stereotypic behavior hallmark (90%) HP:0000733
9 muscular hypotonia hallmark (90%) HP:0001252
10 reduced tendon reflexes hallmark (90%) HP:0001315
11 abnormality of the voice hallmark (90%) HP:0001608
12 dehydration hallmark (90%) HP:0001944
13 hypercalciuria hallmark (90%) HP:0002150
14 neurological speech impairment hallmark (90%) HP:0002167
15 hyponatremia hallmark (90%) HP:0002902
16 aminoaciduria hallmark (90%) HP:0003355
17 short stature hallmark (90%) HP:0004322
18 cognitive impairment hallmark (90%) HP:0100543
19 glomerulopathy hallmark (90%) HP:0100820
20 cryptorchidism typical (50%) HP:0000028
21 long face typical (50%) HP:0000276
22 full cheeks typical (50%) HP:0000293
23 low-set, posteriorly rotated ears typical (50%) HP:0000368
24 abnormality of the pinna typical (50%) HP:0000377
25 deeply set eye typical (50%) HP:0000490
26 buphthalmos typical (50%) HP:0000557
27 obsessive-compulsive behavior typical (50%) HP:0000722
28 hyperparathyroidism typical (50%) HP:0000843
29 seizures typical (50%) HP:0001250
30 arthritis typical (50%) HP:0001369
31 joint hypermobility typical (50%) HP:0001382
32 joint swelling typical (50%) HP:0001386
33 thrombocytopenia typical (50%) HP:0001873
34 frontal bossing typical (50%) HP:0002007
35 constipation typical (50%) HP:0002019
36 ventriculomegaly typical (50%) HP:0002119
37 fine hair typical (50%) HP:0002213
38 eeg abnormality typical (50%) HP:0002353
39 scoliosis typical (50%) HP:0002650
40 recurrent fractures typical (50%) HP:0002757
41 hypokalemia typical (50%) HP:0002900
42 involuntary movements typical (50%) HP:0004305
43 reduced bone mineral density typical (50%) HP:0004349
44 attention deficit hyperactivity disorder typical (50%) HP:0007018
45 generalized hypopigmentation typical (50%) HP:0007513
46 neoplasm of the skin typical (50%) HP:0008069
47 feeding difficulties in infancy typical (50%) HP:0008872
48 abnormal hair quantity typical (50%) HP:0011362
49 vitamin d deficiency typical (50%) HP:0100512
50 abnormality of calcium-phosphate metabolism typical (50%) HP:0100530
51 self-injurious behavior typical (50%) HP:0100716
52 benign neoplasm of the central nervous system typical (50%) HP:0100835
53 functional abnormality of male internal genitalia occasional (7.5%) HP:0000025
54 polycystic kidney dysplasia occasional (7.5%) HP:0000113
55 nephrocalcinosis occasional (7.5%) HP:0000121
56 abnormality of the palate occasional (7.5%) HP:0000174
57 open mouth occasional (7.5%) HP:0000194
58 gingivitis occasional (7.5%) HP:0000230
59 everted lower lip vermilion occasional (7.5%) HP:0000232
60 thin vermilion border occasional (7.5%) HP:0000233
61 mandibular prognathia occasional (7.5%) HP:0000303
62 long philtrum occasional (7.5%) HP:0000343
63 micrognathia occasional (7.5%) HP:0000347
64 otitis media occasional (7.5%) HP:0000388
65 strabismus occasional (7.5%) HP:0000486
66 chorioretinal abnormality occasional (7.5%) HP:0000532
67 upslanted palpebral fissure occasional (7.5%) HP:0000582
68 lacrimation abnormality occasional (7.5%) HP:0000632
69 carious teeth occasional (7.5%) HP:0000670
70 taurodontia occasional (7.5%) HP:0000679
71 abnormality of dental enamel occasional (7.5%) HP:0000682
72 delayed eruption of teeth occasional (7.5%) HP:0000684
73 dental malocclusion occasional (7.5%) HP:0000689
74 periodontitis occasional (7.5%) HP:0000704
75 abnormality of the ribs occasional (7.5%) HP:0000772
76 nephrolithiasis occasional (7.5%) HP:0000787
77 hematuria occasional (7.5%) HP:0000790
78 hyperaldosteronism occasional (7.5%) HP:0000859
79 diabetes insipidus occasional (7.5%) HP:0000873
80 platyspondyly occasional (7.5%) HP:0000926
81 abnormality of the metaphyses occasional (7.5%) HP:0000944
82 atypical scarring of skin occasional (7.5%) HP:0000987
83 limitation of joint mobility occasional (7.5%) HP:0001376
84 umbilical hernia occasional (7.5%) HP:0001537
85 anemia occasional (7.5%) HP:0001903
86 deep philtrum occasional (7.5%) HP:0002002
87 malabsorption occasional (7.5%) HP:0002024
88 respiratory insufficiency occasional (7.5%) HP:0002093
89 hypophosphatemia occasional (7.5%) HP:0002148
90 recurrent respiratory infections occasional (7.5%) HP:0002205
91 kyphosis occasional (7.5%) HP:0002808
92 genu valgum occasional (7.5%) HP:0002857
93 patellar dislocation occasional (7.5%) HP:0002999
94 abnormality of lipid metabolism occasional (7.5%) HP:0003119
95 abnormality of the hip bone occasional (7.5%) HP:0003272
96 abnormality of the epiphyses occasional (7.5%) HP:0005930
97 opacification of the corneal stroma occasional (7.5%) HP:0007759
98 aplasia/hypoplasia of the lens occasional (7.5%) HP:0008063
99 reduced number of teeth occasional (7.5%) HP:0009804
100 abnormality of dentin occasional (7.5%) HP:0010299
101 oligosacchariduria occasional (7.5%) HP:0010471
102 hypoammonemia occasional (7.5%) HP:0100493
103 urogenital fistula occasional (7.5%) HP:0100589
104 odontogenic neoplasm occasional (7.5%) HP:0100612
105 atelectasis occasional (7.5%) HP:0100750
106 cheilitis occasional (7.5%) HP:0100825
107 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Oculocerebrorenal Syndrome

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Drug clinical trials:

Search ClinicalTrials for Oculocerebrorenal Syndrome

Search NIH Clinical Center for 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:

31
Skin, Kidney, Eye, Bone, Testes, Brain, Lung

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2HYDIN, ASPM, CLCN5, INPPL1, INPP5E
2MP:00053787.4ASPM, SYNJ1, OCRL, INPP5K, INPPL1, INPP5D
3MP:00107686.9HYDIN, PI4K2A, SYNJ1, OCRL, INPP5K, INPPL1

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
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. (7573041)
1995
20
Lesions in oculocerebrorenal syndrome. (7847233)
1994
21
Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. (7516514)
1994
22
MR findings in oculocerebrorenal syndrome. (8456727)
1993
23
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (8504307)
1993
24
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. (8488875)
1993
25
The oculocerebrorenal syndrome of Lowe. (8325732)
1993
26
Radiological cases of the month. Lowe (oculocerebrorenal) syndrome. (1384308)
1992
27
Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. (1594319)
1992
28
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. (1321346)
1992
29
The oculocerebrorenal syndrome of Lowe. (1927708)
1991
30
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. (2017228)
1991
31
Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state. (2028753)
1991
32
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. (1897526)
1991
33
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. (2081601)
1990
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:

6
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 variantPathogenicrs137853263GRCh37Chr X, 128696373: 128696373

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
19.5OCRL, INPPL1, INPP5D
2
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis36
inositol pyrophosphates biosynthesis36
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis36
8.0INPP5B, INPP5A, INPP5J, INPP5D, INPPL1, OCRL
37.3INPP5B, SYNJ1, SYNJ2, OCRL, INPP5K, INPPL1
4
Show member pathways
7.3PI4K2A, INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
5
Show member pathways
7.3SYNJ1, SYNJ2, OCRL, INPP5K, INPPL1, INPP5D
6
Show member pathways
D-myo-inositol-5-phosphate metabolism36
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism36
D-myo-inositol (1,4,5)-trisphosphate degradation36
superpathway of inositol phosphate compounds36
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)36
D-myo-inositol (1,4,5)-trisphosphate biosynthesis36
myo-inositol biosynthesis36
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)36
D-myo-inositol (1,3,4)-trisphosphate biosynthesis36
6.4INPP5A, INPP5J, INPP5D, INPPL1, INPP5K, OCRL
7
Show member pathways
6.4PI4K2A, INPP5B, INPP5E, INPP5A, INPP5J, INPP5D

Compounds for genes affiliated with Oculocerebrorenal Syndrome

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Sources:
24HMDB, 43Novoseek, 12DrugBank
See all sources

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1Inositol 1,3,4-trisphosphate249.4INPP5A, INPP5J, INPPL1, INPP5K
21D-Myo-inositol 1,4-bisphosphate249.4INPP5A, INPP5J, INPPL1, INPP5K
3Inositol 1,3,4,5-tetraphosphate249.4INPP5A, INPP5J, INPPL1, INPP5K
4Inositol 1,4,5-trisphosphate249.4INPP5A, INPP5J, INPPL1, INPP5K
5inositol 1,3,4,5-tetrakisphosphate43 1210.3INPP5J, INPP5D, INPPL1, INPP5K, OCRL
6inositol 1,4,5 trisphosphate439.1INPP5A, INPP5J, OCRL
7phosphatidylinositol-3,4,5-trisphosphate43 2410.1INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
81-Phosphatidyl-D-myo-inositol248.9INPP5B, INPP5E, OCRL, SYNJ2, SYNJ1
9inositol438.8INPP5E, INPP5J, INPP5D, INPPL1, INPP5K, OCRL
10phosphoinositide438.5INPP5J, INPP5D, INPPL1, SYNJ1, RAB6A
11tyrosine438.3RAB6A, SYNJ1, INPPL1, INPP5D, INPP5J, GOLGA5
12lipid438.0INPP5J, INPP5D, INPPL1, INPP5K, OCRL, SYNJ1
13phosphatidylinositol437.8PI4K2A, INPP5J, INPP5D, INPPL1, INPP5K, OCRL
14Water247.5INPP5B, INPP5E, INPP5A, INPP5J, INPPL1, INPP5K
15Phosphate247.1SYNJ1, INPP5B, INPP5E, INPP5A, INPP5J, INPP5D

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
1Golgi-associated vesicleGO:00057989.7COPB1, OCRL
2trans-Golgi networkGO:00058029.1RAB6A, OCRL, INPP5K
3Golgi membraneGO:00001398.4CLCN5, GOLGA5, COPB1, COG4, RAB2B, RAB6A
4Golgi apparatusGO:00057948.2RAB6A, COPB1, INPPL1, INPP5B, PI4K2A, GOLGA5
5plasma membraneGO:00058867.8INPP5B, INPP5A, INPP5J, INPP5K, OCRL, COPB1
6membraneGO:00160207.2INPP5D, INPP5K, CLCN5, RAB6A, SYNJ2, INPP5B
7cytosolGO:00058296.0COPB1, RAB6A, SYNJ1, SYNJ2, OCRL, INPPL1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ruffle assemblyGO:009717810.1INPP5K, INPPL1
2inositol phosphate dephosphorylationGO:004685510.1INPP5E, INPP5K
3phosphate-containing compound metabolic processGO:00067969.7SYNJ1, INPP5D
4negative regulation of peptidyl-serine phosphorylationGO:00331379.6INPP5K, INPP5J
5retrograde vesicle-mediated transport, Golgi to ERGO:00068909.3COPB1, COG4, RAB6A
6small GTPase mediated signal transductionGO:00072648.8RAB6A, RAB2B, OCRL, INPP5B
7inositol phosphate metabolic processGO:00436478.3INPP5B, SYNJ1, OCRL, INPPL1, INPP5D, INPP5J
8phosphatidylinositol biosynthetic processGO:00066617.5SYNJ1, SYNJ2, OCRL, INPP5K, INPPL1, INPP5D
9phospholipid metabolic processGO:00066447.5PI4K2A, INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
10phosphatidylinositol dephosphorylationGO:00468567.0SYNJ1, SYNJ2, OCRL, INPP5K, INPPL1, INPP5D
11small molecule metabolic processGO:00442816.5PI4K2A, INPP5B, INPP5E, INPP5A, INPP5J, INPP5D

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activityGO:00344859.9INPP5J, INPP5K
2phosphatidylinositol trisphosphate phosphatase activityGO:00345949.6INPP5K, INPP5D
3inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activityGO:00526599.5INPP5K, INPP5J, INPP5A
4SH3 domain bindingGO:00171249.4INPPL1, INPP5D, INPP5J
5inositol-1,4,5-trisphosphate 5-phosphatase activityGO:00526589.2INPP5B, INPP5A, INPP5J, INPP5K
6phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00044398.7INPP5B, INPP5E, OCRL, SYNJ2, SYNJ1
7inositol-polyphosphate 5-phosphatase activityGO:00044458.6SYNJ1, INPP5K, INPP5D, INPP5J, INPP5A, INPP5E
8protein bindingGO:00055155.6PI4K2A, INPP5B, INPP5A, INPP5D, INPPL1, INPP5K

Products for genes affiliated with Oculocerebrorenal Syndrome

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Sources for Oculocerebrorenal Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
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39NDF-RT
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43Novoseek
45OMIM
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51QIAGEN
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60UMLS
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