Trait

Hardening of skin and connective tissue

Clinical name: Sclerocornea

A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.

HPO HP:0000647

Body system: Abnormality of the eye

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/traits/sclerocornea.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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49 genes linked to Hardening of skin and connective tissue

Changes in these genes cause rare conditions in which Hardening of skin and connective tissue is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
B3GALT6beta-1,3-galactosyltransferase 6	Always	In 1 condition
KERAkeratocan	Always	In 1 condition
COX7Bcytochrome c oxidase subunit 7B	Very often (80–99%)	In 2 conditions
HCCSholocytochrome c synthase	Very often (80–99%)	In 2 conditions
NDPnorrin cystine knot growth factor NDP	Very often (80–99%)	In 1 condition
NDUFB11NADH:ubiquinone oxidoreductase subunit B11	Very often (80–99%)	In 2 conditions
B9D1B9 domain containing 1	Often (30–79%)	In 1 condition
B9D2B9 domain containing 2	Often (30–79%)	In 1 condition
CC2D2Acoiled-coil and C2 domain containing 2A	Often (30–79%)	In 1 condition
CEP290centrosomal protein 290	Often (30–79%)	In 1 condition
CSPP1centrosome and spindle pole associated protein 1	Often (30–79%)	In 1 condition
FIG4FIG4 phosphoinositide 5-phosphatase	Often (30–79%)	In 2 conditions
FOXE3forkhead box E3	Often (30–79%)	In 2 conditions
HMX1H6 family homeobox 1	Often (30–79%)	In 1 condition
MAPKAPK5MAPK activated protein kinase 5	Often (30–79%)	In 1 condition
MKS1MKS transition zone complex subunit 1	Often (30–79%)	In 1 condition
RPGRIP1RPGR interacting protein 1	Often (30–79%)	In 1 condition
RPGRIP1LRPGRIP1 like	Often (30–79%)	In 1 condition
SLC25A24solute carrier family 25 member 24	Often (30–79%)	In 1 condition
TCTN1tectonic family member 1	Often (30–79%)	In 1 condition
TCTN2tectonic family member 2	Often (30–79%)	In 1 condition
TCTN3tectonic family member 3	Often (30–79%)	In 1 condition
TMEM107transmembrane protein 107	Often (30–79%)	In 1 condition
TMEM216transmembrane protein 216	Often (30–79%)	In 1 condition
TMEM231transmembrane protein 231	Often (30–79%)	In 1 condition
TMEM237transmembrane protein 237	Often (30–79%)	In 1 condition
TMEM67transmembrane protein 67	Often (30–79%)	In 1 condition
TXNDC15thioredoxin domain containing 15	Often (30–79%)	In 1 condition
VAC14VAC14 component of PIKFYVE complex	Often (30–79%)	In 1 condition
BMP4bone morphogenetic protein 4	Sometimes (5–29%)	In 2 conditions
CPLX1complexin 1	Sometimes (5–29%)	In 1 condition
CTBP1C-terminal binding protein 1	Sometimes (5–29%)	In 1 condition
DHCR77-dehydrocholesterol reductase	Sometimes (5–29%)	In 1 condition
LETM1leucine zipper and EF-hand containing transmembrane protein 1	Sometimes (5–29%)	In 1 condition
MAB21L2mab-21 like 2	Sometimes (5–29%)	In 1 condition
NELFAnegative elongation factor complex member A	Sometimes (5–29%)	In 1 condition
NSD2nuclear receptor binding SET domain protein 2	Sometimes (5–29%)	In 1 condition
PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)	Sometimes (5–29%)	In 1 condition
PRDM5PR/SET domain 5	Sometimes (5–29%)	In 1 condition
SCARF2scavenger receptor class F member 2	Sometimes (5–29%)	In 2 conditions

Show 9 more genes

Gene	How often it is seen	Conditions
SIX6SIX homeobox 6	Sometimes (5–29%)	In 1 condition
SOX2SRY-box transcription factor 2	Sometimes (5–29%)	In 2 conditions
CENPFcentromere protein F	Not recorded	In 1 condition
FGFR1fibroblast growth factor receptor 1	Not recorded	In 1 condition
PAX6paired box 6	Not recorded	In 1 condition
PXDNperoxidasin	Not recorded	In 1 condition
RAXretina and anterior neural fold homeobox	Not recorded	In 1 condition
TBX1T-box transcription factor 1	Not recorded	In 1 condition
TENM3teneurin transmembrane protein 3	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Corneal opacity

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.17-8666dff2.

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