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	hunter syndrome

Disease ID	395
Disease	hunter syndrome
Definition	Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Synonym	deficiency of iduronate-2-sulfatase deficiency of iduronate-2-sulfatase (disorder) deficiency of iduronate-2-sulphatase disease hunters diseases hunters gargoylism, hunter syndrome hunter disease hunter syndrome gargoylism hunter's syndrome hunters syndrome ids deficiency iduronate 2-sulfatase deficiency iduronate 2-sulphatase deficiency iduronate sulfatase deficiency iduronate sulphatase deficiency mps 2 mps 2 - mucopolysaccharidosis 2 mps ii mps2 mpsii - mucopolysaccharidosis type ii mucopolysaccharidosis 2 mucopolysaccharidosis ii mucopolysaccharidosis ii [disease/finding] mucopolysaccharidosis type 2 mucopolysaccharidosis type ii mucopolysaccharidosis type ii (disorder) mucopolysaccharidosis, mps-ii mucopolysaccharidosis, mps-ii (disorder) mucopolysaccharidosis, type ii sids deficiency sulfo-iduronate sulfatase deficiency sulfoiduronate sulfatase deficiency sulfoiduronidate sulfatase deficiency sulpho-iduronate sulphatase deficiency sulphoiduronidate sulphatase deficiency syndrome, hunter syndrome, hunter's
Orphanet	ORPHANET:580
OMIM	OMIM:309900
DOID	DOID:12799
ICD10	ICD10CM:E76.1
UMLS	C0026705
MeSH	D016532
SNOMED-CT	SNOMEDCT_US_2016_09_01:70737009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0007682 \| cns disease \| 2 C0027765 \| neurological disorders \| 1 C0042568 \| vertebrobasilar insufficiency \| 1 C0019294 \| inguinal hernia \| 1 C0007286 \| carpal tunnel syndrome \| 1 C0852283 \| neonatal respiratory distress \| 1 C0020598 \| hypoglycemia \| 1 C0034012 \| delayed puberty \| 1 C0027765 \| neurological disease \| 1 C0042075 \| urological disorders \| 1 C0017919 \| glycogenosis \| 1 C0878544 \| cardiomyopathy \| 1 C0007682 \| cns diseases \| 1 C0018418 \| gynecomastia \| 1 C0027765 \| neurological disorder \| 1 C0035305 \| retinal detachment \| 1 C0006111 \| brain disease \| 1 C0026706 \| mps iii \| 1 C0011570 \| depression \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3423 \| IDS \| CLINVAR;CTD_human;GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 2334 \| AFF2 \| 4.461 \| DISEASES 367 \| AR \| 1.013 \| DISEASES 347527 \| ARSH \| 3.283 \| DISEASES 682 \| BSG \| 2.627 \| DISEASES 4267 \| CD99 \| 1.749 \| DISEASES 55636 \| CHD7 \| 1.688 \| DISEASES 8891 \| EIF2B3 \| 3.598 \| DISEASES 2098 \| ESD \| 2.57 \| DISEASES 2157 \| F8 \| 2.309 \| DISEASES 2332 \| FMR1 \| 3.989 \| DISEASES 2290 \| FOXG1 \| 1.963 \| DISEASES 2556 \| GABRA3 \| 4.039 \| DISEASES 3109 \| HLA-DMB \| 3.369 \| DISEASES 3423 \| IDS \| 7.316 \| DISEASES 23210 \| JMJD6 \| 2.029 \| DISEASES 3897 \| L1CAM \| 2.182 \| DISEASES 4534 \| MTM1 \| 1.916 \| DISEASES 53635 \| PTOV1 \| 2.788 \| DISEASES 146713 \| RBFOX3 \| 1.072 \| DISEASES 6622 \| SNCA \| 2.959 \| DISEASES 6663 \| SOX10 \| 1.5 \| DISEASES 6427 \| SRSF2 \| 1.824 \| DISEASES 51366 \| UBR5 \| 2.027 \| DISEASES
Locus	(Waiting for update.)

Disease ID	395
Disease	hunter syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:26) HP:0100543 \| Cognitive deficits \| 4 HP:0001943 \| Hypoglycemia \| 1 HP:0006887 \| Progressive mental retardation \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0100556 \| Hemiatrophy of the body \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0002643 \| Respiratory distress, neonatal \| 1 HP:0000729 \| Pervasive developmental disorder \| 1 HP:0002344 \| Progressive neurologic deterioration \| 1 HP:0000750 \| Late-onset speech development \| 1 HP:0002119 \| Ventricular dilatation \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0001249 \| Mental retardation \| 1 HP:0000023 \| Inguinal hernia \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0006827 \| Degeneration of the spinal cord \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0000823 \| Pubertal delay \| 1 HP:0000541 \| Detached retina \| 1 HP:0000716 \| Depression \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0003162 \| Low blood sugar when fasting \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0002680 \| Hour glass shaped sella turcica \| 1

Disease ID	395
Disease	hunter syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C1963137 \| hydrocephalus C0740852 \| upper airway obstruction C0520679 \| obstructive sleep apnea C0265985 \| mongolian spots C0162538 \| selective iga deficiency C0038454 \| cerebral infarction C0037315 \| sleep apnoea C0005779 \| coagulation defect C0001883 \| airway obstruction
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:32)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894853	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149490322	G	A
rs104894856	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149500977	G	C
rs104894860	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149498301	G	T,A
rs104894861	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149503326	T	C
rs104894862	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149482935	C	A
rs104894863	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149482933	C	G
rs113993946	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149482996	C	T,G,A
rs113993946	9375851	3423	IDS	umls:C0026705	BeFree	Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.	0.47558868	1997	IDS	X	149482996	C	T,G,A
rs113993948	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149486983	G	A
rs113993949	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149503477	C	T
rs145807417	9762601	3423	IDS	umls:C0026705	UNIPROT	Hunter disease in the Spanish population: molecular analysis in 31 families.	0.47558868	1998	IDS	X	149490395	T	C
rs146458524	8940265	3423	IDS	umls:C0026705	UNIPROT	Mucopolysaccharidosis type II (Hunter syndrome): mutation hot spots in the iduronate-2-sulfatase gene.	0.47558868	1996	IDS	X	149496471	C	A,T
rs199422227	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149483072	G	T,A
rs199422228	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149482894	C	G
rs199422229	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149483135	A	C
rs199422230	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149482974	C	T
rs199422231	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149482997	G	A
rs28937310	8281149	3423	IDS	umls:C0026705	UNIPROT	Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).	0.47558868	1993	NA	NA	NA	NA	NA
rs28937311	1303211	3423	IDS	umls:C0026705	UNIPROT	Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).	0.47558868	1992	NA	NA	NA	NA	NA
rs398123247	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149505034	C	G
rs398123248	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149482891	A	T
rs398123249	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149503468	G	A
rs398123250	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149498228	A	G
rs398123251	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149498218	T	-
rs483352904	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149498305	TG	-
rs483352905	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149503379	GGA	-
rs797044502	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149486957	G	-
rs797044671	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149504188	-	G
rs797044703	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149503412	-	TTGA
rs797044750	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149498124	-	A
rs797044770	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149496392	-	CTTCCCTTAAACAT
rs797044782	NA	3423	IDS	umls:C0026705	CLINVAR	NA	0.47558868	NA	IDS	X	149487106	A	C

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	395
Disease	hunter syndrome
Case	(Waiting for update.)