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	ichthyosis, x linked

Disease ID	1151
Disease	ichthyosis, x linked
Definition	Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
Synonym	ichthyoses, sex-linked ichthyoses, x-linked ichthyosis, sex linked ichthyosis, sex-linked ichthyosis, x-linked ichthyosis, x-linked [disease/finding] sex-linked ichthyosis ssdd x linked ichthyosis x-linked ichthyosis x-linked ichthyosis (sts, ssdd) x-linked ichthyosis with steryl-sulfatase deficiency x-linked ichthyosis with steryl-sulfatase deficiency (disorder) x-linked ichthyosis with steryl-sulphatase deficiency x-linked recessive ichthyosis x-linked recessive ichthyosis (disorder) x-linked recessive ichthyosis [ambiguous] xli
Orphanet	ORPHANET:461
OMIM	OMIM:308100
DOID	DOID:1700
ICD10	ICD10CM:Q80.1
UMLS	C0079588
MeSH	D016114
SNOMED-CT	SNOMEDCT_US_2016_09_01:72523005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0014527 \| epidermolysis bullosa \| 2 C0027726 \| nephrotic syndrome \| 1 C0079294 \| dystrophic epidermolysis bullosa \| 1 C0079474 \| recessive dystrophic epidermolysis bullosa \| 1 C2717836 \| steroid sulfatase deficiency \| 1 C0025362 \| mental retardation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 412 \| STS \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 412 \| STS \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 224 \| ALDH3A2 \| 2.162 \| DISEASES 226 \| ALDOA \| 2.358 \| DISEASES 265 \| AMELX \| 1.784 \| DISEASES 1174 \| AP1S1 \| 3.273 \| DISEASES 415 \| ARSE \| 1.873 \| DISEASES 347527 \| ARSH \| 4.58 \| DISEASES 438 \| ASMT \| 2.779 \| DISEASES 488 \| ATP2A2 \| 1.461 \| DISEASES 633 \| BGN \| 1.509 \| DISEASES 820 \| CAMP \| 1.032 \| DISEASES 4267 \| CD99 \| 3.528 \| DISEASES 80254 \| CEP63 \| 2.763 \| DISEASES 55636 \| CHD7 \| 1.597 \| DISEASES 4166 \| CHST6 \| 2.629 \| DISEASES 1294 \| COL7A1 \| 1.626 \| DISEASES 10682 \| EBP \| 2.666 \| DISEASES 2312 \| FLG \| 4.279 \| DISEASES 2707 \| GJB3 \| 2.154 \| DISEASES 127534 \| GJB4 \| 2.815 \| DISEASES 3713 \| IVL \| 2.166 \| DISEASES 5650 \| KLK7 \| 3.009 \| DISEASES 3850 \| KRT3 \| 2.45 \| DISEASES 3853 \| KRT6A \| 2.455 \| DISEASES 51360 \| MBTPS2 \| 2.381 \| DISEASES 4536 \| MT-ND2 \| 1.997 \| DISEASES 4763 \| NF1 \| 1.765 \| DISEASES 8481 \| OFD1 \| 2.48 \| DISEASES 6303 \| SAT1 \| 1.835 \| DISEASES 6473 \| SHOX \| 1.77 \| DISEASES 83959 \| SLC4A11 \| 2.455 \| DISEASES 11005 \| SPINK5 \| 1.832 \| DISEASES 4070 \| TACSTD2 \| 1.885 \| DISEASES 9095 \| TBX19 \| 2.684 \| DISEASES 7045 \| TGFBI \| 1.508 \| DISEASES 29914 \| UBIAD1 \| 2.655 \| DISEASES 26609 \| VCX \| 5.717 \| DISEASES 51480 \| VCX2 \| 5.115 \| DISEASES 51481 \| VCX3A \| 6.062 \| DISEASES 425054 \| VCX3B \| 5.071 \| DISEASES 7499 \| XG \| 4.64 \| DISEASES 9278 \| ZBTB22 \| 2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1151
Disease	ichthyosis, x linked
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0000028 \| Cryptorchidism HP:0001939 \| Laboratory abnormality HP:0007759 \| Cloudy cornea HP:0007431 \| Congenital ichthyosis HP:0008064 \| Ichthyosis HP:0002664 \| Neoplasia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0012588 \| Steroid-resistant nephrotic syndrome \| 1 HP:0000100 \| Nephrosis \| 1 HP:0001249 \| Mental retardation \| 1 HP:0008629 \| Pulsatile tinnitus \| 1 HP:0012215 \| Testicular microlithiasis \| 1

Disease ID	1151
Disease	ichthyosis, x linked
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0025362 \| mental retardation \| 1

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

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

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	19065769	7157	TP53	umls:C0079588	BeFree	We investigated p53 codon 72 polymorphism (Arg72Pro) frequencies with respect to the susceptibility and the clinical outcome of patients with STS.	0.00434307	2008	TP53	17	7676154	G	T,C
rs11540654	19065769	7157	TP53	umls:C0079588	BeFree	We investigated p53 codon 72 polymorphism (Arg72Pro) frequencies with respect to the susceptibility and the clinical outcome of patients with STS.	0.00434307	2008	TP53	17	7676040	C	T,G,A
rs137853165	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7325356	T	A
rs137853166	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7334066	G	A
rs137853167	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7305109	C	T
rs137853168	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7325357	G	C
rs137853169	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7334060	A	G

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

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

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0007759	Opacification of the corneal stroma	MP:0012129	failure of blastocyst formation	inability to form a blastocyst from a solid ball of cells known as a morula

Mapped by homologous gene(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007431	Congenital ichthyosiform erythroderma	MP:0011527	disorganized placental labyrinth	derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
HP:0008064	Ichthyosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002664	Neoplasm	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000028	Cryptorchidism	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0007759	Opacification of the corneal stroma	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue

Disease ID	1151
Disease	ichthyosis, x linked
Case	(Waiting for update.)

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