Human Phenotype Ontology 
Grandparent Node:
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Abnormality of fluid regulation (HP:0011032)help
Parent Node:
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Abnormality of prenatal development or birth (HP:0001197)help
Parent Node:
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Edema (HP:0000969)help
..Starting node
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Increased nuchal translucency (HP:0010880)help
Term ID: 10880
Name: Increased nuchal translucency
Synonym:
Definition: Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
Comments:
Reference: HP:0010880
Genes and Diseases:
 
       Child Nodes:
........expandFetal cystic hygroma (HP:0010878) help

 Sister Nodes: 
..expandAngioedema (HP:0100665) help
..expandCerebral edema (HP:0002181) help
..expandCorneal stromal edema (HP:0012040) help
..expandEdema of the dorsum of feet (HP:0012098) help
..expandEdema of the dorsum of hands (HP:0007514) help
..expandEdema of the upper limbs (HP:0010742) help
..expandFacial edema (HP:0000282) help
..expandGeneralized edema (HP:0007430) help
..expandGenital edema (HP:0031188) help
..expandHydrops fetalis (HP:0001789) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHypoproteinemic edema (HP:0007609) help
..expandIntestinal edema (HP:0005225) help
..expandJoint swelling (HP:0001386) help
..expandLaryngeal edema (HP:0012027) help
..expandLymphedema (HP:0001004) help
..expandMacular edema (HP:0040049) help
..expandMuscular edema (HP:0100748) help
..expandPeau d'orange (HP:0025533) help
..expandPedal edema (HP:0010741) help
..expandPeripheral edema (HP:0012398) help
..expandPharyngeal edema (HP:0011855) help
..expandPleural effusion (HP:0002202) help
..expandPulmonary edema (HP:0100598) help
..expandTongue edema (HP:0040315) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010880HP:0010880Increased nuchal translucency0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0010880HP:0010880Increased nuchal translucency0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0010880HP:0010880Increased nuchal translucency0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0010880HP:0010880Increased nuchal translucency0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent5
HP:0010880HP:0010880Increased nuchal translucency0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent76
HP:0010880HP:0010880Increased nuchal translucency0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent
HP:0010880HP:0010880Increased nuchal translucency0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent17
HP:0010880HP:0010880Increased nuchal translucency0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0010880HP:0010880Increased nuchal translucency0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0010880HP:0010880Increased nuchal translucency0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0010880HP:0010880Increased nuchal translucency0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0DOHH CL E G H8347528662OMIM:620066
HP:0010880HP:0010880Increased nuchal translucency0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0010880HP:0010880Increased nuchal translucency0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040282 - Frequent145
HP:0010880HP:0010880Increased nuchal translucency0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040282 - Frequent145
HP:0010880HP:0010880Increased nuchal translucency0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0010880HP:0010880Increased nuchal translucency0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040283 - Occasional99
HP:0010880HP:0010880Increased nuchal translucency0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0010880HP:0010880Increased nuchal translucency0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0010880HP:0010880Increased nuchal translucency0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0010880HP:0010880Increased nuchal translucency0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0010880HP:0010880Increased nuchal translucency0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0010880HP:0010880Increased nuchal translucency0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0010880HP:0010880Increased nuchal translucency0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0010880HP:0010880Increased nuchal translucency0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0010880HP:0010880Increased nuchal translucency0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0010880HP:0010880Increased nuchal translucency0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0010880HP:0010880Increased nuchal translucency0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0010880HP:0010880Increased nuchal translucency0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0010880HP:0010880Increased nuchal translucency0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0010880HP:0010880Increased nuchal translucency0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0010880HP:0010880Increased nuchal translucency0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0010880HP:0010880Increased nuchal translucency0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0010880HP:0010880Increased nuchal translucency0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0010880HP:0010880Increased nuchal translucency0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0010880HP:0010880Increased nuchal translucency0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0010880HP:0010880Increased nuchal translucency0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 479
HP:0010880HP:0010880Increased nuchal translucency0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0010880HP:0010880Increased nuchal translucency0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0010880HP:0010880Increased nuchal translucency0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent2
HP:0010880HP:0010880Increased nuchal translucency0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0010880HP:0010880Increased nuchal translucency0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0010880HP:0010880Increased nuchal translucency0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional


Genes (51) :ADARB1 ATN1 BAZ1B BCL7B BMPER BRD4 BUB1 BUB1B BUB3 BUD23 CEP57 CLIP2 CSGALNACT1 DHCR7 DHPS DNAJC30 DOHH EIF4H ELN FGFR3 FIG4 FKBP6 GPC6 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HNRNPK LBR LIMK1 LZTR1 METTL27 MLXIPL MYL11 NCF1 NIPBL ODC1 PIGN RAD21 RFC2 SMC1A SMC3 STAG1 STX1A TBL2 TMEM270 TRIP11 TRIP13 TXNDC15 VAC14 VPS37D

Diseases (25) :OMIM:618862 OMIM:618494 ORPHA:904 OMIM:608022 ORPHA:199 ORPHA:1052 OMIM:618870 ORPHA:818 OMIM:618480 OMIM:620066 ORPHA:1860 ORPHA:93274 ORPHA:3472 ORPHA:93329 ORPHA:352665 ORPHA:453504 OMIM:215140 OMIM:616564 OMIM:605275 OMIM:619110 ORPHA:544488 ORPHA:280633 OMIM:617635 OMIM:200600 OMIM:619879
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.