형질
Small nipples
임상 명칭: Hypoplastic nipples
Underdevelopment of the nipple.
요약
- 다른 명칭
- Nipple hypoplasia
이 페이지의 데이터
페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/traits/hypoplastic-nipples.json"
page <- fromJSON(url)
page$trait$name44 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Ectodermal DysplasiasReads 5 of these genesTP63LEF1EDAEDARADDIKBKGAbout this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
Show 40 more reports
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Congenital Disorders of GlycosylationReads 4 of these genesALG9MGAT2GNEPIGLAbout this report →
- Hypodontia and AnodontiaReads 1 of these genesEDAAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Intellectual DisabilityReads 5 of these genesKDM6BBRD4USP9XPIGLSETBP1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesNKX2-5About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX2About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBBAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-5About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGLAbout this report →
- Autoimmune DiseaseReads 1 of these genesCHRNGAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesMEGF8About this report →
- Inherited IchthyosesReads 1 of these genesKRT10About this report →
- VitreoretinopathyReads 1 of these genesIKBKGAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Thyroid CancerReads 1 of these genesNKX2-5About this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesFIG4PEX2About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNEAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesNSD1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPEX2About this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesFIG4PEX2About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSMC1AAbout this report →
- Other Inborn Errors of ImmunityReads 1 of these genesIKBKGAbout this report →
연관 유전자 43개: Small nipples
이 유전자들의 변화는 Small nipples 증상이 나타나는 희귀 질환을 일으킵니다. 이 형질을 가진 대부분의 사람에게는 이러한 질환이 없으며, 이 목록에 있는 유전자가 누구의 개인 유전체에 대해서도 말해 주는 것은 없습니다.
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| CCDC47coiled-coil domain containing 47 | 항상 | 질환 1개에서 나타남 |
| FAT4FAT atypical cadherin 4 | 항상 | 질환 1개에서 나타남 |
| FIG4FIG4 phosphoinositide 5-phosphatase | 항상 | 질환 1개에서 나타남 |
| KDM6Blysine demethylase 6B | 항상 | 질환 1개에서 나타남 |
| TBX3T-box transcription factor 3 | 항상 | 질환 2개에서 나타남 |
| TP63tumor protein p63 | 항상 | 질환 5개에서 나타남 |
| KRT10keratin 10 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| BRD4bromodomain containing 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| HDAC8histone deacetylase 8 | 자주 (30–79%) | 질환 1개에서 나타남 |
| KDM6Alysine demethylase 6A | 자주 (30–79%) | 질환 1개에서 나타남 |
| KMT2Dlysine methyltransferase 2D | 자주 (30–79%) | 질환 2개에서 나타남 |
| LEF1lymphoid enhancer binding factor 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MAU2MAU2 sister chromatid cohesion factor | 자주 (30–79%) | 질환 1개에서 나타남 |
| NIPBLNIPBL cohesin loading factor | 자주 (30–79%) | 질환 2개에서 나타남 |
| NKX2-5NK2 homeobox 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NSD1nuclear receptor binding SET domain protein 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PTPRFprotein tyrosine phosphatase receptor type F | 자주 (30–79%) | 질환 1개에서 나타남 |
| RAD21RAD21 cohesin complex component | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMC1Astructural maintenance of chromosomes 1A | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMC3structural maintenance of chromosomes 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TWIST2twist family bHLH transcription factor 2 | 자주 (30–79%) | 질환 3개에서 나타남 |
| ALG9ALG9 alpha-1,2-mannosyltransferase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DLK1delta like non-canonical Notch ligand 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KIF15kinesin family member 15 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MEG3maternally expressed 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MEGF8multiple EGF like domains 8 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PEX2peroxisomal biogenesis factor 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RTL1retrotransposon Gag like 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| USP9Xubiquitin specific peptidase 9 X-linked | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ANTXR1ANTXR cell adhesion molecule 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| CHRNGcholinergic receptor nicotinic gamma subunit | 기록되지 않음 | 질환 1개에서 나타남 |
| EDAectodysplasin A | 기록되지 않음 | 질환 1개에서 나타남 |
| EDARADDEDAR associated via death domain | 기록되지 않음 | 질환 1개에서 나타남 |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | 기록되지 않음 | 질환 1개에서 나타남 |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | 기록되지 않음 | 질환 1개에서 나타남 |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | 기록되지 않음 | 질환 1개에서 나타남 |
| PORCNporcupine O-acyltransferase | 기록되지 않음 | 질환 1개에서 나타남 |
| SETBP1SET binding protein 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| SLC25A24solute carrier family 25 member 24 | 기록되지 않음 | 질환 1개에서 나타남 |
유전자 3개 더 보기
Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.
상위 형질
출처
- Human Phenotype Ontology, 버전 2026-09-01: 특징, 명칭, 정의 및 이와 연결된 유전자입니다. 자세한 내용은 hpo.jax.org에서 확인하실 수 있습니다.
- 데이터 버전 2026.10.19-9814e911.
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