Human Phenotype Ontology 
Grandparent Node:
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Abnormal breast morphology (HP:0031093)help
Parent Node:
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Abnormal nipple morphology (HP:0004404)help
..Starting node
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Inverted nipples (HP:0003186)help
Term ID: 3186
Name: Inverted nipples
Synonym: Invaginated nipples; Inverted nipples
Definition: The presence of nipples that instead of pointing outward are retracted inwards.
Comments:
Reference: HP:0003186
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal intermamillary distance (HP:0040157) help
..expandAplasia/Hypoplasia of the nipples (HP:0006709) help
..expandDry nipple (HP:0031509) help
..expandLow-set nipples (HP:0002562) help
..expandProminent nipples (HP:0004405) help
..expandSupernumerary nipple (HP:0002558) 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:0003186HP:0003186Inverted nipples0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0003186HP:0003186Inverted nipples0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0003186HP:0003186Inverted nipples0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type IpHP:0040283 - Occasional41
HP:0003186HP:0003186Inverted nipples0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040284 - Very rare68
HP:0003186HP:0003186Inverted nipples0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0003186HP:0003186Inverted nipples0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0003186HP:0003186Inverted nipples0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040283 - Occasional37
HP:0003186HP:0003186Inverted nipples0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0003186HP:0003186Inverted nipples0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040282 - Frequent93
HP:0003186HP:0003186Inverted nipples0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0003186HP:0003186Inverted nipples0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0003186HP:0003186Inverted nipples0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0003186HP:0003186Inverted nipples0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0003186HP:0003186Inverted nipples0C18ORF32 CL E G H49766131690OMIM:619985
HP:0003186HP:0003186Inverted nipples0CACNA1C CL E G H7751390OMIM:620029572
HP:0003186HP:0003186Inverted nipples0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0003186HP:0003186Inverted nipples0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003186HP:0003186Inverted nipples0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003186HP:0003186Inverted nipples0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0003186HP:0003186Inverted nipples0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0003186HP:0003186Inverted nipples0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0003186HP:0003186Inverted nipples0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0003186HP:0003186Inverted nipples0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0003186HP:0003186Inverted nipples0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0003186HP:0003186Inverted nipples0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0003186HP:0003186Inverted nipples0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0003186HP:0003186Inverted nipples0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003186HP:0003186Inverted nipples0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0003186HP:0003186Inverted nipples0KMT2B CL E G H975715840OMIM:61993411
HP:0003186HP:0003186Inverted nipples0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003186HP:0003186Inverted nipples0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0003186HP:0003186Inverted nipples0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0003186HP:0003186Inverted nipples0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003186HP:0003186Inverted nipples0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0003186HP:0003186Inverted nipples0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0003186HP:0003186Inverted nipples0PEX3 CL E G H85048858OMIM:617370Peroxisome biogenesis disorder 10B.47
HP:0003186HP:0003186Inverted nipples0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0003186HP:0003186Inverted nipples0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0003186HP:0003186Inverted nipples0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0003186HP:0003186Inverted nipples0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0003186HP:0003186Inverted nipples0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0003186HP:0003186Inverted nipples0RFT1 CL E G H9186930220ORPHA:244310RFT1-CDGHP:0040282 - Frequent92
HP:0003186HP:0003186Inverted nipples0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0003186HP:0003186Inverted nipples0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0003186HP:0003186Inverted nipples0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0003186HP:0003186Inverted nipples0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0003186HP:0003186Inverted nipples0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0003186HP:0003186Inverted nipples0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0003186HP:0003186Inverted nipples0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0003186HP:0003186Inverted nipples0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0003186HP:0003186Inverted nipples0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0003186HP:0003186Inverted nipples0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0003186HP:0003186Inverted nipples0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0003186HP:0003186Inverted nipples0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0003186HP:0003186Inverted nipples0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS


Genes (45) :ACOX1 ALG11 ALG12 ALG2 ALG3 ALG8 ALG9 ATN1 B4GALT1 BICRA C18ORF32 CACNA1C COG7 DEF6 DLK1 DPAGT1 DPM1 EBF3 EZH2 HNRNPK INTU KAT6A KMT2B LBR MAN1B1 MEG3 MGAT2 NFIX PEX3 PIGT PMM2 RERE RFT1 RTL1 SET SLC25A46 SLC35A2 SOX6 SRD5A3 STT3A TBX3 TCF20 TWIST2 WAC WASF1

Diseases (53) :OMIM:264470 ORPHA:280071 OMIM:613661 ORPHA:79324 OMIM:607143 OMIM:607906 ORPHA:79321 ORPHA:79325 ORPHA:79328 OMIM:608776 OMIM:618494 ORPHA:79332 OMIM:619325 OMIM:619985 OMIM:620029 OMIM:608779 OMIM:619573 ORPHA:96334 OMIM:608093 ORPHA:86309 ORPHA:79322 OMIM:617330 OMIM:277590 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:617926 OMIM:616268 OMIM:619934 OMIM:618019 ORPHA:397941 OMIM:614202 ORPHA:79329 ORPHA:447980 OMIM:617370 ORPHA:369837 OMIM:615398 ORPHA:79318 OMIM:616975 OMIM:612015 ORPHA:244310 OMIM:618106 OMIM:616505 ORPHA:356961 OMIM:618971 OMIM:612379 OMIM:619714 OMIM:181450 OMIM:618430 OMIM:209885 OMIM:616708 ORPHA:466950 OMIM:618707
 

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