{
  "url": "https://dantelabs.com/traits/telangiectasia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "telangiectasia",
    "id": "HP:0001009",
    "name": "Spider veins",
    "label": "Telangiectasia",
    "definition": "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.",
    "synonyms": [
      "Telangiectases"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      },
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "vascular-skin-abnormality",
        "name": "Vascular skin abnormality",
        "url": "https://dantelabs.com/traits/vascular-skin-abnormality"
      }
    ],
    "narrower": [
      {
        "slug": "telangiectasia-of-the-skin",
        "name": "Telangiectasia of the skin",
        "genes": 61,
        "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin"
      },
      {
        "slug": "retinal-telangiectasia",
        "name": "Retinal telangiectasia",
        "genes": 21,
        "url": "https://dantelabs.com/traits/retinal-telangiectasia"
      },
      {
        "slug": "mucosal-telangiectasiae",
        "name": "Mucosal telangiectasiae",
        "genes": 14,
        "url": "https://dantelabs.com/traits/mucosal-telangiectasiae"
      },
      {
        "slug": "cutaneous-telangiectasia",
        "name": "Cutaneous telangiectasia",
        "genes": 3,
        "url": "https://dantelabs.com/traits/cutaneous-telangiectasia"
      },
      {
        "slug": "nail-bed-telangiectasia",
        "name": "Nail bed telangiectasia",
        "genes": 2,
        "url": "https://dantelabs.com/traits/nail-bed-telangiectasia"
      },
      {
        "slug": "diffuse-telangiectasia",
        "name": "Diffuse telangiectasia",
        "genes": 1,
        "url": "https://dantelabs.com/traits/diffuse-telangiectasia"
      },
      {
        "slug": "telangiectasia-macularis-eruptiva-perstans",
        "name": "Telangiectasia macularis eruptiva perstans",
        "genes": 1,
        "url": "https://dantelabs.com/traits/telangiectasia-macularis-eruptiva-perstans"
      }
    ],
    "genes": [
      {
        "slug": "atr",
        "symbol": "ATR",
        "hgnc": "HGNC:882",
        "name": "ATR checkpoint kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atr"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "eng",
        "symbol": "ENG",
        "hgnc": "HGNC:3349",
        "name": "endoglin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/eng"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "gdf2",
        "symbol": "GDF2",
        "hgnc": "HGNC:4217",
        "name": "growth differentiation factor 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gdf2"
      },
      {
        "slug": "sting1",
        "symbol": "STING1",
        "hgnc": "HGNC:27962",
        "name": "stimulator of interferon response cGAMP interactor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sting1"
      },
      {
        "slug": "xpc",
        "symbol": "XPC",
        "hgnc": "HGNC:12816",
        "name": "XPC complex subunit, DNA damage recognition and repair factor",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "hgnc": "HGNC:130",
        "name": "actin alpha 2, smooth muscle",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta2"
      },
      {
        "slug": "acvrl1",
        "symbol": "ACVRL1",
        "hgnc": "HGNC:175",
        "name": "activin A receptor like type 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acvrl1"
      },
      {
        "slug": "ano1",
        "symbol": "ANO1",
        "hgnc": "HGNC:21625",
        "name": "anoctamin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ano1"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ddb2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "hgnc": "HGNC:2876",
        "name": "diaphanous related formin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/diaph1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "rnf213",
        "symbol": "RNF213",
        "hgnc": "HGNC:14539",
        "name": "ring finger protein 213",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf213"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpa"
      },
      {
        "slug": "anapc1",
        "symbol": "ANAPC1",
        "hgnc": "HGNC:19988",
        "name": "anaphase promoting complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anapc1"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "hgnc": "HGNC:2214",
        "name": "collagen type VII alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col7a1"
      },
      {
        "slug": "naga",
        "symbol": "NAGA",
        "hgnc": "HGNC:7631",
        "name": "alpha-N-acetylgalactosaminidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naga"
      },
      {
        "slug": "polh",
        "symbol": "POLH",
        "hgnc": "HGNC:9181",
        "name": "DNA polymerase eta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polh"
      },
      {
        "slug": "taldo1",
        "symbol": "TALDO1",
        "hgnc": "HGNC:11559",
        "name": "transaldolase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/taldo1"
      },
      {
        "slug": "usb1",
        "symbol": "USB1",
        "hgnc": "HGNC:25792",
        "name": "U6 snRNA biogenesis phosphodiesterase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usb1"
      },
      {
        "slug": "blm",
        "symbol": "BLM",
        "hgnc": "HGNC:1058",
        "name": "BLM RecQ like helicase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/blm"
      },
      {
        "slug": "casz1",
        "symbol": "CASZ1",
        "hgnc": "HGNC:26002",
        "name": "castor zinc finger 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casz1"
      },
      {
        "slug": "gabrd",
        "symbol": "GABRD",
        "hgnc": "HGNC:4084",
        "name": "gamma-aminobutyric acid type A receptor subunit delta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrd"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "kcnab2",
        "symbol": "KCNAB2",
        "hgnc": "HGNC:6229",
        "name": "potassium voltage-gated channel subfamily A regulatory beta subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnab2"
      },
      {
        "slug": "lig4",
        "symbol": "LIG4",
        "hgnc": "HGNC:6601",
        "name": "DNA ligase 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lig4"
      },
      {
        "slug": "lmx1b",
        "symbol": "LMX1B",
        "hgnc": "HGNC:6654",
        "name": "LIM homeobox transcription factor 1 beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmx1b"
      },
      {
        "slug": "luzp1",
        "symbol": "LUZP1",
        "hgnc": "HGNC:14985",
        "name": "leucine zipper protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/luzp1"
      },
      {
        "slug": "mmp23b",
        "symbol": "MMP23B",
        "hgnc": "HGNC:7171",
        "name": "matrix metallopeptidase 23B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp23b"
      },
      {
        "slug": "neu1",
        "symbol": "NEU1",
        "hgnc": "HGNC:7758",
        "name": "neuraminidase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neu1"
      },
      {
        "slug": "pdpn",
        "symbol": "PDPN",
        "hgnc": "HGNC:29602",
        "name": "podoplanin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdpn"
      },
      {
        "slug": "pgap2",
        "symbol": "PGAP2",
        "hgnc": "HGNC:17893",
        "name": "post-GPI attachment to proteins 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgap2"
      },
      {
        "slug": "pgap3",
        "symbol": "PGAP3",
        "hgnc": "HGNC:23719",
        "name": "post-GPI attachment to proteins phospholipase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgap3"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "hgnc": "HGNC:8966",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigl"
      },
      {
        "slug": "pigo",
        "symbol": "PIGO",
        "hgnc": "HGNC:23215",
        "name": "phosphatidylinositol glycan anchor biosynthesis class O",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigo"
      },
      {
        "slug": "pigv",
        "symbol": "PIGV",
        "hgnc": "HGNC:26031",
        "name": "phosphatidylinositol glycan anchor biosynthesis class V",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigv"
      },
      {
        "slug": "pigw",
        "symbol": "PIGW",
        "hgnc": "HGNC:23213",
        "name": "phosphatidylinositol glycan anchor biosynthesis class W",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigw"
      },
      {
        "slug": "pigy",
        "symbol": "PIGY",
        "hgnc": "HGNC:28213",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Y",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigy"
      },
      {
        "slug": "prdm16",
        "symbol": "PRDM16",
        "hgnc": "HGNC:14000",
        "name": "PR/SET domain 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdm16"
      },
      {
        "slug": "prkcz",
        "symbol": "PRKCZ",
        "hgnc": "HGNC:9412",
        "name": "protein kinase C zeta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkcz"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "rnf168",
        "symbol": "RNF168",
        "hgnc": "HGNC:26661",
        "name": "ring finger protein 168",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf168"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "spen",
        "symbol": "SPEN",
        "hgnc": "HGNC:17575",
        "name": "spen family transcriptional repressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spen"
      },
      {
        "slug": "stxbp1",
        "symbol": "STXBP1",
        "hgnc": "HGNC:11444",
        "name": "syntaxin binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stxbp1"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "ube4b",
        "symbol": "UBE4B",
        "hgnc": "HGNC:12500",
        "name": "ubiquitination factor E4B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube4b"
      },
      {
        "slug": "bmp2",
        "symbol": "BMP2",
        "hgnc": "HGNC:1069",
        "name": "bone morphogenetic protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmp2"
      },
      {
        "slug": "bmpr2",
        "symbol": "BMPR2",
        "hgnc": "HGNC:1078",
        "name": "bone morphogenetic protein receptor type 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmpr2"
      },
      {
        "slug": "ccm2",
        "symbol": "CCM2",
        "hgnc": "HGNC:21708",
        "name": "CCM2 scaffold protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccm2"
      },
      {
        "slug": "dpm1",
        "symbol": "DPM1",
        "hgnc": "HGNC:3005",
        "name": "dolichyl-phosphate mannosyltransferase subunit 1, catalytic",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpm1"
      },
      {
        "slug": "ephb4",
        "symbol": "EPHB4",
        "hgnc": "HGNC:3395",
        "name": "EPH receptor B4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ephb4"
      },
      {
        "slug": "hfe",
        "symbol": "HFE",
        "hgnc": "HGNC:4886",
        "name": "homeostatic iron regulator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hfe"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "uvssa",
        "symbol": "UVSSA",
        "hgnc": "HGNC:29304",
        "name": "UV stimulated scaffold protein A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uvssa"
      }
    ]
  }
}