PedAM

Pediatric Disease Annotations & Medicines


	congenital lymphedema

Disease ID	239
Disease	congenital lymphedema
Definition	A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.
Synonym	congenital familial lymphedema congenital hereditary lymphedema congenital hereditary lymphedemas congenital lymphedema, primary congenital lymphedemas, primary congenital lymphoedema congenital lymphoedema (disorder) early onset lymphedema early onset lymphedemas early-onset lymphedema early-onset lymphedemas hereditary lymphedema hereditary lymphedema (disorder) hereditary lymphedema 1 hereditary lymphedema 1s hereditary lymphedema type i hereditary lymphedema type i (disorder) hereditary lymphedema, congenital hereditary lymphedemas hereditary lymphedemas, congenital hereditary lymphoedema hereditary lymphoedema type i infantile lymphedema (praecox) infantile lymphoedema (praecox) lmph1a lymphedema, congenital hereditary lymphedema, early onset lymphedema, early-onset lymphedema, hereditary lymphedema, hereditary, ia lymphedema, nonne-milroy lymphedema, primary congenital lymphedemas, congenital hereditary lymphedemas, early onset lymphedemas, early-onset lymphedemas, hereditary lymphedemas, primary congenital milroy dis milroy disease milroy lymphedema milroy lymphoedema milroy's disease milroy's disease (disorder) milroys dis milroys disease nonne milroy disease nonne milroy lymphedema nonne milroy meige disease nonne-milroy disease nonne-milroy lymphedema nonne-milroy lymphoedema nonne-milroy-meige disease nonne-milroy-meige syndrome primary (congenital) lymphedema primary (congenital) lymphoedema primary congenital lymphedema primary congenital lymphedemas primary congenital lymphoedema
Orphanet	ORPHANET:79452
OMIM	OMIM:153100
DOID	DOID:0050580
ICD10	ICD10CM:Q82.0
UMLS	C1704423
SNOMED-CT	SNOMEDCT_US_2016_09_01:399889006;SNOMEDCT_US_2016_09_01:254199006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0041341 \| tuberous sclerosis \| 2 C0025958 \| microcephaly \| 2 C0020305 \| hydrops fetalis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) GJC2 \| 57165 \| ORPHANET FLT4 \| 2324 \| CLINVAR;UNIPROT;ORPHANET;GHR VEGFC \| 7424 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:26) 64411 \| ARAP3 \| DISEASES 1948 \| EFNB2 \| DISEASES 821 \| CANX \| DISEASES 10894 \| LYVE1 \| DISEASES 5629 \| PROX1 \| DISEASES 2324 \| FLT4 \| DISEASES 9620 \| CELSR1 \| DISEASES 3791 \| KDR \| DISEASES 3680 \| ITGA9 \| DISEASES 7424 \| VEGFC \| DISEASES 326 \| AIRE \| DISEASES 2264 \| FGFR4 \| DISEASES 10630 \| PDPN \| DISEASES 178 \| AGL \| DISEASES 285 \| ANGPT2 \| DISEASES 2303 \| FOXC2 \| DISEASES 2309 \| FOXO3 \| DISEASES 5781 \| PTPN11 \| DISEASES 54345 \| SOX18 \| DISEASES 3187 \| HNRNPH1 \| DISEASES 57165 \| GJC2 \| DISEASES 5784 \| PTPN14 \| DISEASES 7422 \| VEGFA \| DISEASES 2296 \| FOXC1 \| DISEASES 147372 \| CCBE1 \| DISEASES 284 \| ANGPT1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	239
Disease	congenital lymphedema
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:8) HP:0001560 \| Abnormality of the amniotic fluid HP:0003759 \| Underdeveloped lymphatic vessels HP:0003550 \| Predominantly lower limb lymphedema HP:0007448 \| Hyperkeratosis over edematous areas HP:0001597 \| Abnormality of the nail HP:0000034 \| Testicular hydrocele HP:0001790 \| Nonimmune hydrops fetalis HP:0001028 \| Strawberry mark
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000252 \| Small head circumference \| 2 HP:0200058 \| Angiosarcoma \| 1 HP:0009743 \| Distichiasis of eyelid eyelashes \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	239
Disease	congenital lymphedema
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2025995 \| cellulitis C1719672 \| severe sepsis C0238124 \| necrotizing fasciitis C0041341 \| tuberous sclerosis C0033680 \| exudative enteropathy C0032227 \| pleural effusions
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0041341 \| tuberous sclerosis \| 2

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909650	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180616464	C	G
rs121909651	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180616455	A	G
rs121909652	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180613101	G	A
rs121909654	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180619680	C	T
rs121909655	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180614142	A	G
rs121909656	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180614083	C	T
rs121909657	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180619749	C	T
rs267606818	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180619743	C	T
rs587776833	NA	2324	FLT4	umls:C1704423	CLINVAR	NA	0.447328931	NA	FLT4	5	180614074	AGA	-

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.)

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.)

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