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encyclopedia of Rare Disease Annotation for Precision Medicine

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	acral peeling skin syndrome

Disease ID	1629
Disease	acral peeling skin syndrome
Synonym	acral peeling skin syndrome (disorder) apss peeling skin syndrome 2 peeling skin syndrome, acral type
Orphanet	ORPHANET:263534
OMIM	OMIM:609796
UMLS	C1853354
SNOMED-CT	SNOMEDCT_US_2016_09_01:709416009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0019204 \| hepatocellular carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 9333 \| TGM5 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) TGM5 \| 15q15.2

Disease ID	1629
Disease	acral peeling skin syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:14) HP:0008066 \| Skin bullae HP:0010783 \| Erythema HP:0040189 \| Desquamation HP:0012733 \| Macule HP:0040189 \| Scaling skin HP:0008499 \| High-grade hypermetropia HP:0012393 \| Allergy HP:0200034 \| Papule HP:0007605 \| Excessive wrinkling of palmar skin HP:0200041 \| Skin erosion HP:0000964 \| Eczema HP:0000953 \| Hyperpigmentation of the skin HP:0008066 \| Abnormal blistering of the skin HP:0008064 \| Ichthyosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0030731 \| Carcinoma \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0008066 \| Skin bullae \| 1

Disease ID	1629
Disease	acral peeling skin syndrome
Manually Symptom	(Waiting for update.)
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:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs112292549	16380904	9333	TGM5	umls:C1853354	UNIPROT	A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.	0.480814326	2005	TGM5	15	43260151	C	A
rs112292549	NA	9333	TGM5	umls:C1853354	CLINVAR	NA	0.480814326	NA	TGM5	15	43260151	C	A
rs115677373	NA	9333	TGM5	umls:C1853354	CLINVAR	NA	0.480814326	NA	TGM5	15	43252858	A	G
rs143601447	NA	9333	TGM5	umls:C1853354	CLINVAR	NA	0.480814326	NA	TGM5	15	43260468	A	G
rs606231276	NA	9333	TGM5	umls:C1853354	CLINVAR	NA	0.480814326	NA	TGM5	15	43238827	C	G
rs606231277	NA	9333	TGM5	umls:C1853354	CLINVAR	NA	0.480814326	NA	TGM5	15	43253550	G	-
rs606231278	NA	9333	TGM5	umls:C1853354	CLINVAR	NA	0.480814326	NA	TGM5	15	43234829	ACTGC	TGAAGGA

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

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

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000953	Hyperpigmentation of the skin	MP:0012069	abnormal horizontal basal cell of olfactory epithelium morphology	any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0040189	Scaling skin	MP:0009931	abnormal skin appearance	anomaly in the visual aspect of the skin
HP:0008066	Abnormal blistering of the skin	MP:0009536	abnormal interstitial cell of Cajal morphology	any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which

Mapped by homologous gene(Total Items:9)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0200034	Papule	MP:0013745	abnormal eyelid margin morphology	any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0008064	Ichthyosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000964	Eczema	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0010783	Erythema	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0000953	Hyperpigmentation of the skin	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0200041	Skin erosion	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0008066	Abnormal blistering of the skin	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0008499	High-grade hypermetropia	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:0040189	Scaling skin	MP:0011091	prenatal lethality, complete penetrance	death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)

Disease ID	1629
Disease	acral peeling skin syndrome
Case	(Waiting for update.)

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