OCR
MCID: OCL005
MIFTS: 70

Oculocerebrorenal Syndrome (OCR) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Oculocerebrorenal Syndrome

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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 based summary: Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent's disease 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 Phosphatases and Inositol phosphate metabolism. The compounds 1D-Myo-inositol 1,4-bisphosphate and Inositol 1,3,4-trisphosphate have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related mouse phenotypes are craniofacial and growth/size/body.

Wikipedia:65 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

Description from OMIM:46 309000

GeneReviews summary for lowe

Aliases & Classifications for Oculocerebrorenal Syndrome

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 62UMLS, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 39NCIt, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Oculocerebrorenal Syndrome, Aliases & Descriptions:

Name: Oculocerebrorenal Syndrome 8 19 42 21 10 48 62
Lowe Syndrome 8 9 19 42 20 22 21 46 44 48
Oculocerebrorenal Syndrome of Lowe 8 19 21 62
Lowe Oculocerebrorenal Syndrome 8 42 21 62
Oculocerebrorenal Dystrophy 48 62
Ocrl 42 48
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 42
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency 21
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 48
 
Lowe Oculo-Cerebro-Renal Syndrome 48
Chromosome 11p Deletion Syndrome 62
Oculo-Cerebro-Renal Dystrophy 48
Oculo-Cerebro-Renal Syndrome 48
Cerebrooculorenal Syndrome 21
Lowe Disease 48
Ocrl1 42
Ocr 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
lowe syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


External Ids:

Disease Ontology8 DOID:1056
NCIt39 C84940
OMIM46 309000
MeSH34 D009800
SNOMED-CT57 79385002
MESH via Orphanet35 D009800
ICD10 via Orphanet26 E72.0
UMLS via Orphanet63 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 by clinical synopsis from OMIM:

309000

Clinical features from OMIM:

309000

Symptoms:

48 (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 150)
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
108 cryptorchidism HP:0000028
109 renal insufficiency HP:0000083
110 proteinuria HP:0000093
111 glaucoma HP:0000501
112 visual impairment HP:0000505
113 congenital cataract HP:0000519
114 microphthalmos HP:0000568
115 aggressive behavior HP:0000718
116 stereotypic behavior HP:0000733
117 platyspondyly HP:0000926
118 wrist swelling HP:0001225
119 intellectual disability HP:0001249
120 seizures HP:0001250
121 areflexia HP:0001284
122 neonatal hypotonia HP:0001319
123 joint hypermobility HP:0001382
124 x-linked recessive inheritance HP:0001419
125 subcutaneous nodule HP:0001482
126 failure to thrive HP:0001508
127 renal fanconi syndrome HP:0001994
128 constipation HP:0002019
129 proximal renal tubular acidosis HP:0002049
130 ventriculomegaly HP:0002119
131 scoliosis HP:0002650
132 rickets HP:0002748
133 osteomalacia HP:0002749
134 pathologic fracture HP:0002756
135 kyphosis HP:0002808
136 hip dislocation HP:0002827
137 genu valgum HP:0002857
138 hyperphosphaturia HP:0003109
139 hypercholesterolemia HP:0003124
140 elevated serum acid phosphatase HP:0003148
141 aminoaciduria HP:0003355
142 bicarbonaturia HP:0003646
143 short stature HP:0004322
144 elevated amniotic fluid alpha-fetoprotein HP:0004639
145 elevated maternal serum alpha-fetoprotein HP:0005984
146 hypoplasia of dental enamel HP:0006297
147 periventricular cysts HP:0007109
148 dense posterior cortical cataract HP:0007948
149 camptodactyly of finger HP:0100490
150 camptodactyly of finger HP:0100490

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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Genetic tests related to Oculocerebrorenal Syndrome:

id Genetic test Affiliating Genes
1 Lowe Syndrome20 22 OCRL

Anatomical Context for Oculocerebrorenal Syndrome

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MalaCards organs/tissues related to Oculocerebrorenal Syndrome:

32
Kidney, Eye, Brain, Skin, Testes, Bone, Lung

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

36
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 49)
idTitleAuthorsYear
1
Whata89s your diagnosis? Infantile glaucoma. . .and discoid cataracts. Oculocerebrorenal syndrome of Lowe. (25062135)
2014
2
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. (24217083)
2013
3
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. (23805271)
2013
4
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe. (23549725)
2013
5
Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. (22351770)
2012
6
Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies. (19217010)
2009
7
Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life. (19547830)
2009
8
Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. (17621522)
2007
9
Glaucoma with the oculocerebrorenal syndrome of Lowe. (15870597)
2005
10
What's your diagnosis? Oculocerebrorenal syndrome of Lowe. (16250214)
2005
11
Cataracts and glaucoma in patients with oculocerebrorenal syndrome. (12963605)
2003
12
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
13
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (9632163)
1998
14
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (9199559)
1997
15
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. (9116424)
1997
16
MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. (8703232)
1996
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

Variations for Oculocerebrorenal Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Oculocerebrorenal Syndrome:

64 (show all 36)
id Symbol AA change Variation ID SNP ID
1OCRLp.Arg337ProVAR_010169
2OCRLp.Val372GlyVAR_010172rs137853834
3OCRLp.His375TyrVAR_010173rs137853848
4OCRLp.Gly421GluVAR_010174rs137853855
5OCRLp.Asn424AspVAR_010175rs137853856
6OCRLp.Asp451GlyVAR_010176rs137853850
7OCRLp.Phe463SerVAR_010177rs137853851
8OCRLp.Cys498TyrVAR_010178rs137853857
9OCRLp.Arg500GlyVAR_010179
10OCRLp.Arg500GlnVAR_010180rs137853260
11OCRLp.Val508AspVAR_010181rs137853849
12OCRLp.Tyr513CysVAR_010182rs137853847
13OCRLp.Ser522ArgVAR_010183rs137853853
14OCRLp.His524GlnVAR_010184rs137853261
15OCRLp.His524ArgVAR_010185rs137853852
16OCRLp.Ile533SerVAR_010187
17OCRLp.Arg318CysVAR_022698rs137853263
18OCRLp.Pro526LeuVAR_023958rs137853858
19OCRLp.Phe242SerVAR_064773rs137853828
20OCRLp.Ile274ThrVAR_064774rs137853829
21OCRLp.Gln277ArgVAR_064775rs137853830
22OCRLp.Arg337CysVAR_064776rs137853831
23OCRLp.Arg361IleVAR_064778rs137853832
24OCRLp.Asn373TyrVAR_064779rs137853835
25OCRLp.Ser374PheVAR_064780rs137853836
26OCRLp.His414ArgVAR_064781rs137853837
27OCRLp.Asp451AsnVAR_064782rs137853838
28OCRLp.Arg457GlyVAR_064783rs137853839
29OCRLp.Glu468GlyVAR_064784rs137853841
30OCRLp.Glu468LysVAR_064785rs137853840
31OCRLp.Pro495LeuVAR_064787
32OCRLp.Asp499HisVAR_064788rs137853842
33OCRLp.Trp503ArgVAR_064789rs137853843
34OCRLp.Asn591LysVAR_064790rs137853844
35OCRLp.Pro801LeuVAR_064793
36OCRLp.Leu891ArgVAR_064794rs137853845

Clinvar genetic disease variations for Oculocerebrorenal Syndrome:

6
id Gene Name 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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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

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Pathways related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5INPPL1, INPP5D, OCRL
2
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis37
inositol pyrophosphates biosynthesis37
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis37
8.0SYNJ1, OCRL, INPP5D, INPP5J, INPP5A, INPP5B
37.3INPP5B, INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
4
Show member pathways
7.3PI4K2A, INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
5
Show member pathways
7.3INPP5D, INPPL1, INPP5K, OCRL, SYNJ2, SYNJ1
6
Show member pathways
6.4INPPL1, INPP5D, INPP5J, PI4K2A, INPP5K, OCRL
7
Show member pathways
D-myo-inositol-5-phosphate metabolism37
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism37
D-myo-inositol (1,4,5)-trisphosphate degradation37
superpathway of inositol phosphate compounds37
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)37
D-myo-inositol (1,4,5)-trisphosphate biosynthesis37
myo-inositol biosynthesis37
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)37
D-myo-inositol (1,3,4)-trisphosphate biosynthesis37
6.4PI4K2A, INPP5B, INPP5E, INPP5A, OCRL, SYNJ1

Compounds for genes affiliated with Oculocerebrorenal Syndrome

About this section
Sources:
24HMDB, 44Novoseek, 11DrugBank
See all sources

Compounds related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
11D-Myo-inositol 1,4-bisphosphate249.4INPP5J, INPP5K, INPPL1, INPP5A
2Inositol 1,3,4-trisphosphate249.4INPP5A, INPPL1, INPP5J, INPP5K
3Inositol 1,3,4,5-tetraphosphate249.4INPPL1, INPP5A, INPP5K, INPP5J
4Inositol 1,4,5-trisphosphate249.4INPP5A, INPPL1, INPP5K, INPP5J
5inositol 1,3,4,5-tetrakisphosphate44 1110.3INPPL1, OCRL, INPP5K, INPP5D, INPP5J
6inositol 1,4,5 trisphosphate449.1INPP5A, INPP5J, OCRL
7phosphatidylinositol-3,4,5-trisphosphate44 2410.1INPP5E, INPP5J, INPP5K, INPP5D, INPPL1
81-Phosphatidyl-D-myo-inositol248.9INPP5B, INPP5E, OCRL, SYNJ2, SYNJ1
9inositol448.8INPP5E, SYNJ1, OCRL, INPP5J, INPPL1, INPP5D
10phosphoinositide448.5RAB6A, INPP5J, INPP5D, INPPL1, SYNJ1
11tyrosine448.3GOLGA5, INPP5D, INPPL1, SYNJ1, RAB6A, INPP5J
12lipid448.0INPP5D, RAB6A, SYNJ1, OCRL, INPPL1, INPP5K
13phosphatidylinositol447.8PI4K2A, RAB6A, SYNJ1, OCRL, INPP5K, INPPL1
14Water247.5INPP5A, INPP5J, INPPL1, OCRL, INPP5K, SYNJ2
15Phosphate247.1INPPL1, OCRL, INPP5D, INPP5J, SYNJ2, INPP5A

GO Terms for genes affiliated with Oculocerebrorenal Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1Golgi-associated vesicleGO:0057989.7COPB1, OCRL
2trans-Golgi networkGO:0058029.1INPP5K, OCRL, RAB6A
3Golgi membraneGO:0001398.4GOLGA5, CLCN5, COPB1, COG4, RAB2B, RAB6A
4Golgi apparatusGO:0057948.2GOLGA5, PI4K2A, INPP5B, INPPL1, COPB1, RAB6A
5plasma membraneGO:0058867.8RAB2B, COPB1, OCRL, INPP5K, INPPL1, INPP5J
6membraneGO:0160207.2INPP5B, INPP5A, INPP5D, INPP5K, CLCN5, SYNJ2
7cytosolGO:0058296.0RAB6A, PI4K2A, INPP5B, INPP5E, INPP5J, INPP5D

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ruffle assemblyGO:09717810.1INPP5K, INPPL1
2inositol phosphate dephosphorylationGO:04685510.1INPP5K, INPP5E
3phosphate-containing compound metabolic processGO:0067969.7INPP5D, SYNJ1
4negative regulation of peptidyl-serine phosphorylationGO:0331379.6INPP5J, INPP5K
5retrograde vesicle-mediated transport, Golgi to ERGO:0068909.3RAB6A, COG4, COPB1
6small GTPase mediated signal transductionGO:0072648.8RAB6A, INPP5B, RAB2B, OCRL
7inositol phosphate metabolic processGO:0436478.3INPP5B, OCRL, SYNJ1, INPPL1, INPP5D, INPP5J
8phosphatidylinositol biosynthetic processGO:0066617.5PI4K2A, INPP5E, SYNJ1, INPP5J, INPP5D, INPPL1
9phospholipid metabolic processGO:0066447.5SYNJ1, SYNJ2, OCRL, INPP5K, INPPL1, INPP5D
10phosphatidylinositol dephosphorylationGO:0468567.0INPP5E, INPP5A, INPP5J, INPP5D, INPP5K, OCRL
11small molecule metabolic processGO:0442816.5PI4K2A, INPP5B, INPP5E, INPP5A, INPP5J, INPP5D

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activityGO:0344859.9INPP5J, INPP5K
2phosphatidylinositol trisphosphate phosphatase activityGO:0345949.6INPP5K, INPP5D
3inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activityGO:0526599.5INPP5K, INPP5J, INPP5A
4SH3 domain bindingGO:0171249.4INPP5J, INPP5D, INPPL1
5inositol-1,4,5-trisphosphate 5-phosphatase activityGO:0526589.2INPP5K, INPP5J, INPP5B, INPP5A
6phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:0044398.7SYNJ1, INPP5B, INPP5E, OCRL, SYNJ2
7inositol-polyphosphate 5-phosphatase activityGO:0044458.6INPP5A, INPP5E, INPP5J, INPP5D, SYNJ1, INPP5K
8protein bindingGO:0055155.6SYNJ2, COPB1, INPP5K, COG4, RAB6A, OCRL

Products for genes affiliated with Oculocerebrorenal Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Oculocerebrorenal Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet