PedAM

Pediatric Disease Annotations & Medicines


	norrie disease

Disease ID	80
Disease	norrie disease
Definition	A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays.
Synonym	anderson-warburg syndrome atrophia bulborum hereditaria atrophia bulborum hereditaria (disorder) congenital progressive oculo-acoustico-cerebral degeneration episkopi blindness fetal iritis syndrome norrie syndrome norrie's disease norrie-warburg syndrome oligophrenia microphthalmus pseudoglioma congenita whitnall-norman syndrome
Orphanet	ORPHANET:649
OMIM	OMIM:310600
UMLS	C0266526
SNOMED-CT	SNOMEDCT_US_2016_09_01:15228007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0014544 \| epilepsy \| 1 C0042974 \| von willebrand disease \| 1 C0152171 \| idiopathic pulmonary hypertension \| 1 C0456909 \| blindness \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) NDP \| 4693 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4693 \| NDP \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:97) 10083 \| USH1C \| DISEASES 8839 \| WISP2 \| DISEASES 8646 \| CHRD \| DISEASES 1947 \| EFNB1 \| DISEASES 23554 \| TSPAN12 \| DISEASES 7466 \| WFS1 \| DISEASES 6678 \| SPARC \| DISEASES 10804 \| GJB6 \| DISEASES 1948 \| EFNB2 \| DISEASES 8192 \| CLPP \| DISEASES 8840 \| WISP1 \| DISEASES 83483 \| PLVAP \| DISEASES 314 \| AOC2 \| DISEASES 187 \| APLNR \| DISEASES 4005 \| LMO2 \| DISEASES 10518 \| CIB2 \| DISEASES 7450 \| VWF \| DISEASES 7474 \| WNT5A \| DISEASES 1462 \| VCAN \| DISEASES 6722 \| SRF \| DISEASES 23395 \| LARS2 \| DISEASES 51608 \| GET4 \| DISEASES 7078 \| TIMP3 \| DISEASES 8549 \| LGR5 \| DISEASES 2065 \| ERBB3 \| DISEASES 1583 \| CYP11A1 \| DISEASES 2052 \| EPHX1 \| DISEASES 6094 \| ROM1 \| DISEASES 170692 \| ADAMTS18 \| DISEASES 89780 \| WNT3A \| DISEASES 7476 \| WNT7A \| DISEASES 29028 \| ATAD2 \| DISEASES 8321 \| FZD1 \| DISEASES 4681 \| NBL1 \| DISEASES 54361 \| WNT4 \| DISEASES 4041 \| LRP5 \| DISEASES 3973 \| LHCGR \| DISEASES 6259 \| RYK \| DISEASES 51705 \| EMCN \| DISEASES 26585 \| GREM1 \| DISEASES 7480 \| WNT10B \| DISEASES 51082 \| POLR1D \| DISEASES 9723 \| SEMA3E \| DISEASES 7399 \| USH2A \| DISEASES 8639 \| AOC3 \| DISEASES 92745 \| SLC38A5 \| DISEASES 80169 \| CTC1 \| DISEASES 3170 \| FOXA2 \| DISEASES 64388 \| GREM2 \| DISEASES 199699 \| DAND5 \| DISEASES 7481 \| WNT11 \| DISEASES 9241 \| NOG \| DISEASES 7401 \| CLRN1 \| DISEASES 80258 \| EFHC2 \| DISEASES 1908 \| EDN3 \| DISEASES 9138 \| ARHGEF1 \| DISEASES 57496 \| MKL2 \| DISEASES 60506 \| NYX \| DISEASES 6609 \| SMPD1 \| DISEASES 4128 \| MAOA \| DISEASES 1499 \| CTNNB1 \| DISEASES 347 \| APOD \| DISEASES 57591 \| MKL1 \| DISEASES 284654 \| RSPO1 \| DISEASES 1297 \| COL9A1 \| DISEASES 1121 \| CHM \| DISEASES 2005 \| ELK4 \| DISEASES 2050 \| EPHB4 \| DISEASES 8323 \| FZD6 \| DISEASES 1523 \| CUX1 \| DISEASES 2736 \| GLI2 \| DISEASES 8838 \| WISP3 \| DISEASES 65217 \| PCDH15 \| DISEASES 5451 \| POU2F1 \| DISEASES 4942 \| OAT \| DISEASES 6944 \| VPS72 \| DISEASES 3738 \| KCNA3 \| DISEASES 7075 \| TIE1 \| DISEASES 5456 \| POU3F4 \| DISEASES 4943 \| TBC1D25 \| DISEASES 4693 \| NDP \| DISEASES 4129 \| MAOB \| DISEASES 1855 \| DVL1 \| DISEASES 5080 \| PAX6 \| DISEASES 55366 \| LGR4 \| DISEASES 1280 \| COL2A1 \| DISEASES 9350 \| CER1 \| DISEASES 9946 \| CRYZL1 \| DISEASES 1285 \| COL4A3 \| DISEASES 64072 \| CDH23 \| DISEASES 283463 \| MUC19 \| DISEASES 4588 \| MUC6 \| DISEASES 6424 \| SFRP4 \| DISEASES 64283 \| ARHGEF28 \| DISEASES 1028 \| CDKN1C \| DISEASES 3295 \| HSD17B4 \| DISEASES 8322 \| FZD4 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) NDP \| Xp11.3

Disease ID	80
Disease	norrie disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:64) HP:0000407 \| Sensorineural hearing impairment HP:0000411 \| Protruding ear HP:0001083 \| Ectopia lentis HP:0004326 \| Cachexia HP:0100639 \| Erectile abnormalities HP:0000738 \| Hallucinations HP:0000739 \| Anxiety HP:0000823 \| Delayed puberty HP:0001324 \| Muscle weakness HP:0000532 \| Chorioretinal abnormality HP:0000708 \| Behavioral abnormality HP:0000375 \| Abnormality of cochlea HP:0000717 \| Autism HP:0100716 \| Self-injurious behavior HP:0000601 \| Hypotelorism HP:0002353 \| EEG abnormality HP:0000490 \| Deeply set eye HP:0004327 \| Abnormality of the vitreous humor HP:0000733 \| Stereotypy HP:0007676 \| Hypoplasia of the iris HP:0100718 \| Uterine rupture HP:0000501 \| Glaucoma HP:0000819 \| Diabetes mellitus HP:0010662 \| Abnormality of the diencephalon HP:0000541 \| Retinal detachment HP:0001250 \| Seizures HP:0001276 \| Hypertonia HP:0000272 \| Malar flattening HP:0010978 \| Abnormality of immune system physiology HP:0007957 \| Corneal opacity HP:0000618 \| Blindness HP:0100012 \| Neoplasm of the eye HP:0001252 \| Muscular hypotonia HP:0002376 \| Developmental regression HP:0007360 \| Aplasia/Hypoplasia of the cerebellum HP:0000737 \| Irritability HP:0006887 \| Intellectual disability, progressive HP:0000709 \| Psychosis HP:0007833 \| Anterior chamber synechiae HP:0000028 \| Cryptorchidism HP:0002169 \| Clonus HP:0005293 \| Venous insufficiency HP:0000518 \| Cataract HP:0000400 \| Macrotia HP:0000446 \| Narrow nasal bridge HP:0000647 \| Sclerocornea HP:0001347 \| Hyperreflexia HP:0000639 \| Nystagmus HP:0007968 \| Persistent hyperplastic primary vitreous HP:0007018 \| Attention deficit hyperactivity disorder HP:0002650 \| Scoliosis HP:0002360 \| Sleep disturbance HP:0000615 \| Abnormality of the pupil HP:0008063 \| Aplasia/Hypoplasia of the lens HP:0100742 \| Vascular neoplasm HP:0000252 \| Microcephaly HP:0000648 \| Optic atrophy HP:0002120 \| Cerebral cortical atrophy HP:0008046 \| Abnormality of the retinal vasculature HP:0011039 \| Abnormality of the helix HP:0001508 \| Failure to thrive HP:0002076 \| Migraine HP:0000568 \| Microphthalmia HP:0000233 \| Thin vermilion border
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0030490 \| Exudative vitreoretinopathy \| 1 HP:0000618 \| Blindness \| 1 HP:0001730 \| Progressive hearing impairment \| 1 HP:0007875 \| Congenital blindness \| 1 HP:0001622 \| Premature delivery \| 1

Disease ID	80
Disease	norrie disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C2029884 \| hearing loss C1963229 \| retinal detachment
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C1384666 \| hearing loss \| 1

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

All Snps(Total Genotypes:18)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894867	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949932	C	T,G,A
rs104894868	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949977	G	C
rs104894869	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43950022	A	T
rs104894870	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43958515	T	C
rs104894871	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949914	C	T
rs104894872	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949995	C	G
rs104894873	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949817	G	T,A
rs104894875	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949888	C	T
rs104894877	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949913	G	C
rs104894879	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43958608	A	C
rs104894880	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43950020	G	A
rs104894882	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949983	G	T
rs104894883	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949899	G	A
rs137852221	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43958512	A	T
rs28933684	8252044	4128	MAOA	umls:C0266526	BeFree	Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls.	0.002442977	1993	NDP	X	43949831	G	A
rs28933684	8252044	4693	NDP	umls:C0266526	BeFree	Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls.	0.570977227	1993	NDP	X	43949831	G	A
rs28933685	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43958645	T	C
rs727504031	NA	4693	NDP	umls:C0266526	CLINVAR	NA	0.570977227	NA	NDP	X	43949981	G	A

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000541	Retinal detachment	MP:0003099	retinal detachment;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000541	Retinal detachment	MP:0000010	abnormal abdominal fat pad morphology;

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics