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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: alpha-Thalassemia (D017085)
Parent Node: Edema (D004487)
Parent Node: Erythroblastosis, Fetal (D004899)
..Starting node ..Hydrops Fetalis (D015160)
Child Nodes:
........Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
........GREENBERG DYSPLASIA (OMIM:215140)
........Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)
........Nuchal bleb, familial (C537852)
........Xerocytosis, hereditary (C536764)
Sister Nodes:
..Hydrops Fetalis (D015160) 5
..Kernicterus (D007647)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5320

Name:

Hydrops Fetalis

Definition:

Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.

Alternative IDs:

OMIM:236750

ParentIDs:

MESH:D004487|MESH:D004899|MESH:D017085

TreeNumbers:

C13.703.277.060.480 |C15.378.295.480 |C15.378.420.826.100.350 |C16.300.060.480 |C16.320.365.826.100.350 |C20.306.480 |C23.888.277.395

Synonyms:

Slim Mappings:

Reference:

MedGen: D015160
MeSH: D015160
OMIM: 236750;

Genes:

Phenotypes

1	HP:0003577	Congenital onset
2	HP:0001903	Anemia
3	HP:0001635	Congestive heart failure
4	HP:0001790	Nonimmune hydrops fetalis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002642.3(PIGC):c.659T>C (p.Leu220Pro)	-1	-	Likely pathogenic	786205667	RCV000170570;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	1	172411104	172411104	NM_002642.3:c.659T>C	NP_002633.1:p.Leu220Pro	NC_000001.10:g.172411104A>G	-	C0455988 236750 Non-immune hydrops fetalis
NM_001039523.2(CHRNA1):c.762C>T (p.Arg254=)	1134	CHRNA1	Likely pathogenic	545520806	RCV000170571;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	2	175618322	175618322	NM_001039523.2:c.762C>T	NP_001034612.1:p.Arg254=	NC_000002.11:g.175618322G>A	-	C0455988 236750 Non-immune hydrops fetalis
NM_000308.3(CTSA):c.649delC (p.Leu217Phefs)	5476	CTSA	Likely pathogenic	786205670	RCV000170578;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	20	44521514	44521514	NM_000308.3:c.649delC	NP_000299.2:p.Leu217Phefs	NC_000020.10:g.44521514delC	-	C0455988 236750 Non-immune hydrops fetalis
NM_001373.1(DNAH14):c.3755T>A (p.Met1252Lys)	127602	DNAH14	Likely pathogenic	786205668	RCV000170575;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	1	225288474	225288474	NM_001373.1:c.3755T>A	NP_001364.1:p.Met1252Lys	NC_000001.10:g.225288474T>A	-	C0455988 236750 Non-immune hydrops fetalis
NM_001164616.1(FZD6):c.773A>G (p.Tyr258Cys)	8323	FZD6	Likely pathogenic	786205672	RCV000170581;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	8	104337203	104337203	NM_001164616.1:c.773A>G	NP_001158088.1:p.Tyr258Cys	NC_000008.10:g.104337203A>G	-	C0455988 236750 Non-immune hydrops fetalis
NM_024572.3(GALNT14):c.1273C>T (p.Arg425Ter)	79623	GALNT14	Likely pathogenic	201118996	RCV000170583;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	2	31147092	31147092	NM_024572.3:c.1273C>T	NP_078848.2:p.Arg425Ter	NC_000002.11:g.31147092G>A	-	C0455988 236750 Non-immune hydrops fetalis
NM_000181.3(GUSB):c.1586A>G (p.Tyr529Cys)	2990	GUSB	Likely pathogenic	786205674	RCV000170585;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	7	65432785	65432785	NM_000181.3:c.1586A>G	NP_000172.2:p.Tyr529Cys	NC_000007.13:g.65432785T>C	-	C0455988 236750 Non-immune hydrops fetalis
NM_000181.3(GUSB):c.1144C>T (p.Arg382Cys)	2990	GUSB	Likely pathogenic;Pathogenic	121918173	RCV000000942; RCV000170573;	N	MedGen:C0085132,OMIM:253220,ORPHA:584; MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	7	65439613	65439613	NM_000181.3:c.1144C>T	NP_000172.2:p.Arg382Cys	NC_000007.13:g.65439613G>A	OMIM Allelic Variant:611499.0002	C0085132 253220 Mucopolysaccharidosis type VII; C0455988 236750 Non-immune hydrops fetalis
NM_000181.3(GUSB):c.1069C>T (p.Arg357Ter)	2990	GUSB	Likely pathogenic;Pathogenic	121918185	RCV000000956; RCV000170582;	N	MedGen:C0085132,OMIM:253220,ORPHA:584; MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	7	65439688	65439688	NM_000181.3:c.1069C>T	NP_000172.2:p.Arg357Ter	NC_000007.13:g.65439688G>A	OMIM Allelic Variant:611499.0016	C0085132 253220 Mucopolysaccharidosis type VII; C0455988 236750 Non-immune hydrops fetalis
NM_000181.3(GUSB):c.398G>C (p.Trp133Ser)	2990	GUSB	Likely pathogenic	786205671	RCV000170580;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	7	65444897	65444897	NM_000181.3:c.398G>C	NP_000172.2:p.Trp133Ser	NC_000007.13:g.65444897C>G	-	C0455988 236750 Non-immune hydrops fetalis
NM_000181.3(GUSB):c.307C>T (p.Arg103Trp)	2990	GUSB	Likely pathogenic	786205673	RCV000170584;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	7	65445300	65445300	NM_000181.3:c.307C>T	NP_000172.2:p.Arg103Trp	NC_000007.13:g.65445300G>A	-	C0455988 236750 Non-immune hydrops fetalis
NM_003803.3(MYOM1):c.4987G>A (p.Val1663Met)	8736	MYOM1	Likely pathogenic	751200138	RCV000170579;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	18	3067331	3067331	NM_003803.3:c.4987G>A	NP_003794.3:p.Val1663Met	NC_000018.9:g.3067331C>T	-	C0455988 236750 Non-immune hydrops fetalis
NM_001164507.1(NEB):c.21076C>T (p.Arg7026Ter)	4703	NEB	Likely pathogenic	769345284	RCV000170577;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	2	152394412	152394412	NM_001164507.1:c.21076C>T	NP_001157979.1:p.Arg7026Ter	NC_000002.11:g.152394412G>A	-	C0455988 236750 Non-immune hydrops fetalis
NM_000434.3(NEU1):c.1170C>G (p.Tyr390Ter)	4758	NEU1	Pathogenic	746607723	RCV000202594;	N	MedGen:C0268226,OMIM:256550; MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	6	31827574	31827574	NM_000434.3:c.1170C>G	NP_000425.1:p.Tyr390Ter	NC_000006.11:g.31827574G>C	-	C0455988 236750 Non-immune hydrops fetalis; C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.353-2A>G	4758	NEU1	Pathogenic	864309513	RCV000202579;	N	MedGen:C0268226,OMIM:256550; MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	6	31829229	31829229	NM_000434.3:c.353-2A>G		NC_000006.11:g.31829229T>C	-	C0455988 236750 Non-immune hydrops fetalis; C0268226 256550 Sialidosis, type II
NM_018676.3(THSD1):c.670C>T (p.Arg224Ter)	55901	THSD1	Likely pathogenic	9536062	RCV000170586;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	13	52971718	52971718	NM_018676.3:c.670C>T	NP_061146.1:p.Arg224Ter	NC_000013.10:g.52971718G>A	-	C0455988 236750 Non-immune hydrops fetalis
NM_018676.3(THSD1):c.617G>A (p.Cys206Tyr)	55901	THSD1	Likely pathogenic	786205669	RCV000170576;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	13	52971771	52971771	NM_018676.3:c.617G>A	NP_061146.1:p.Cys206Tyr	NC_000013.10:g.52971771C>T	-	C0455988 236750 Non-immune hydrops fetalis
NM_001288656.1(UBN1):c.2356T>A (p.Leu786Met)	29855	UBN1	Likely pathogenic	765004815	RCV000170572;	N	MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	16	4924767	4924767	NM_001288656.1:c.2356T>A	NP_001275585.1:p.Leu786Met	NC_000016.9:g.4924767T>A	-	C0455988 236750 Non-immune hydrops fetalis