eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	lowe syndrome

Disease ID	281
Disease	lowe syndrome
Definition	A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
Synonym	cerebro oculo renal syndrome cerebro-oculo-renal syndrome cerebro-oculorenal dystrophy cerebrooculorenal syndrome disease lowes dystrophy, oculocerebrorenal lowe bickel syndrome lowe dis lowe disease lowe oculocerebrorenal syndrome lowe syndrome (disorder) lowe terrey maclachlan syndrome lowe's syndrome lowe-bickel syndrome lowe-terrey-maclachlan syndrome lowes syndrome ocrl ocrl1 oculocerebrorenal dystrophy oculocerebrorenal syndrome oculocerebrorenal syndrome [disease/finding] oculocerebrorenal syndrome of lowe renal oculocerebrodystrophy renal-oculocerebrodystrophy
Orphanet	ORPHANET:534
OMIM	OMIM:309000
DOID	DOID:1056
ICD10	ICD10CM:E72.03
UMLS	C0028860
MeSH	D009800
SNOMED-CT	SNOMEDCT_US_2016_09_01:79385002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0028860 \| oculocerebrorenal syndrome \| 6 C0028860 \| oculocerebrorenal syndrome of lowe \| 6 C0028860 \| lowe syndrome \| 6 C0878681 \| dent's disease \| 2 C0015624 \| fanconi syndrome \| 2 C0086543 \| cataracts \| 2 C0019284 \| diaphragmatic hernia \| 1 C0025362 \| mental retardation \| 1 C0022658 \| renal disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4952 \| OCRL \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 10257 \| ABCC4 \| 1.279 \| DISEASES 3267 \| AGFG1 \| 2.633 \| DISEASES 204 \| AK2 \| 2.423 \| DISEASES 205 \| AK4 \| 2.553 \| DISEASES 229 \| ALDOB \| 2.333 \| DISEASES 259266 \| ASPM \| 2.591 \| DISEASES 488 \| ATP2A2 \| 1.006 \| DISEASES 54880 \| BCOR \| 1.575 \| DISEASES 617 \| BCS1L \| 1.141 \| DISEASES 1183 \| CLCN4 \| 3.434 \| DISEASES 1184 \| CLCN5 \| 5.027 \| DISEASES 1497 \| CTNS \| 1.481 \| DISEASES 8029 \| CUBN \| 2.464 \| DISEASES 57706 \| DENND1A \| 2.931 \| DISEASES 144717 \| FAM109A \| 5.011 \| DISEASES 2804 \| GOLGB1 \| 2.529 \| DISEASES 2885 \| GRB2 \| 1.782 \| DISEASES 3482 \| IGF2R \| 2.681 \| DISEASES 3633 \| INPP5B \| 6.341 \| DISEASES 3635 \| INPP5D \| 1.919 \| DISEASES 56623 \| INPP5E \| 5.689 \| DISEASES 27124 \| INPP5J \| 2.731 \| DISEASES 51763 \| INPP5K \| 3.007 \| DISEASES 3908 \| LAMA2 \| 1.211 \| DISEASES 3920 \| LAMP2 \| 1.092 \| DISEASES 4514 \| MT-CO3 \| 1.28 \| DISEASES 4534 \| MTM1 \| 1.37 \| DISEASES 4952 \| OCRL \| 8.629 \| DISEASES 4983 \| OPHN1 \| 2.271 \| DISEASES 5048 \| PAFAH1B1 \| 1.543 \| DISEASES 128344 \| PIFO \| 3.992 \| DISEASES 5728 \| PTEN \| 1.368 \| DISEASES 114971 \| PTPMT1 \| 3.085 \| DISEASES 84932 \| RAB2B \| 3.856 \| DISEASES 387 \| RHOA \| 1.604 \| DISEASES 391 \| RHOG \| 2.264 \| DISEASES 22908 \| SACM1L \| 3.559 \| DISEASES 6400 \| SEL1L \| 2.202 \| DISEASES 9356 \| SLC22A6 \| 2.039 \| DISEASES 9376 \| SLC22A8 \| 1.804 \| DISEASES 10479 \| SLC9A6 \| 2.105 \| DISEASES 84679 \| SLC9A7 \| 2.358 \| DISEASES 51429 \| SNX9 \| 2.337 \| DISEASES 8867 \| SYNJ1 \| 3.409 \| DISEASES 8871 \| SYNJ2 \| 3.2 \| DISEASES 26000 \| TBC1D10B \| 4.536 \| DISEASES 7018 \| TF \| 1.371 \| DISEASES 57393 \| TMEM27 \| 2.413 \| DISEASES 55503 \| TRPV6 \| 1.622 \| DISEASES 7499 \| XG \| 2.558 \| DISEASES
Locus	(Waiting for update.)

Disease ID	281
Disease	lowe syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000518 \| Cataract \| 2 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0100790 \| Hernia \| 1 HP:0001249 \| Mental retardation \| 1 HP:0000124 \| Renal tubular defect \| 1

Disease ID	281
Disease	lowe syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C1642403 \| corneal keloid C0546264 \| congenital fiber type disproportion myopathy C0345998 \| eruptive vellus hair cysts C0268237 \| cytochrome oxidase deficiency C0039520 \| tenosynovitis C0035579 \| rickets C0022661 \| end-stage renal failure C0011351 \| enamel hypoplasia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:41)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853260	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129569296	G	A
rs137853260	10767176	4952	OCRL	umls:C0028860	UNIPROT	Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.	0.506359656	2000	OCRL	X	129569296	G	A
rs137853261	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129569369	C	G
rs137853261	9632163	4952	OCRL	umls:C0028860	UNIPROT	Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.	0.506359656	1998	OCRL	X	129569369	C	G
rs137853263	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129562396	C	T
rs137853263	15627218	4952	OCRL	umls:C0028860	UNIPROT	It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised.	0.506359656	2005	OCRL	X	129562396	C	T
rs137853828	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129560552	T	C
rs137853829	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129560648	T	C
rs137853830	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129561184	A	G
rs137853831	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129562453	C	A,T
rs137853832	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129562624	G	T
rs137853834	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129562657	T	G
rs137853835	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129562659	A	T
rs137853836	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129562663	C	T
rs137853837	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129562783	A	G
rs137853838	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129565878	G	A
rs137853839	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129567266	C	G
rs137853840	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129567299	G	A
rs137853841	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129567300	A	G
rs137853842	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129569292	G	C
rs137853843	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129569304	T	C
rs137853844	19168822	4952	OCRL	umls:C0028860	UNIPROT	Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.	0.506359656	2009	OCRL	X	129575956	C	A
rs137853845	21031565	4952	OCRL	umls:C0028860	UNIPROT	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.	0.506359656	2011	OCRL	X	129590236	T	G
rs137853847	9682219	4952	OCRL	umls:C0028860	UNIPROT	Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.	0.506359656	1998	OCRL	X	129569335	A	G
rs137853848	9682219	4952	OCRL	umls:C0028860	UNIPROT	Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.	0.506359656	1998	OCRL	X	129562665	C	T
rs137853849	9682219	4952	OCRL	umls:C0028860	UNIPROT	Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.	0.506359656	1998	OCRL	X	129569320	T	A
rs137853850	9199559	4952	OCRL	umls:C0028860	UNIPROT	Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.	0.506359656	1997	OCRL	X	129565879	A	G
rs137853851	9199559	4952	OCRL	umls:C0028860	UNIPROT	Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.	0.506359656	1997	OCRL	X	129567285	T	C
rs137853852	9199559	4952	OCRL	umls:C0028860	UNIPROT	Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.	0.506359656	1997	OCRL	X	129569368	A	G
rs137853853	9788721	4952	OCRL	umls:C0028860	UNIPROT	Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.	0.506359656	1998	OCRL	X	129569363	C	G,T
rs137853855	10923037	4952	OCRL	umls:C0028860	UNIPROT	OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.	0.506359656	2000	OCRL	X	129565789	G	A
rs137853856	10923037	4952	OCRL	umls:C0028860	UNIPROT	OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.	0.506359656	2000	OCRL	X	129565797	A	G
rs137853857	10923037	4952	OCRL	umls:C0028860	UNIPROT	OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.	0.506359656	2000	OCRL	X	129569290	G	A
rs137853858	10767176	4952	OCRL	umls:C0028860	UNIPROT	Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.	0.506359656	2000	OCRL	X	129569374	C	T
rs387906484	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129589905	C	T
rs398123288	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129589938	G	-
rs398123289	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129590145	G	A
rs398123290	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129561263	AG	-
rs794727137	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129569302	T	C
rs794727182	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129575896	G	A
rs794727333	NA	4952	OCRL	umls:C0028860	CLINVAR	NA	0.506359656	NA	OCRL	X	129588221	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	281
Disease	lowe syndrome
Case	(Waiting for update.)