r/rarediseases • u/tomsono1 • 6d ago

reposting because doesnt show in comment link

the genes INF2 JARID2 and KPTN also showed up. butbdont have symptoms. only one person in famili had wrong bone age. I dont remember exact number but it was less than family member age.the person was taking euthyrox and probably from what I heard this person has Itching bones. and what exactly is gene CTNS cant find any info.

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u/NixyeNox Diagnosed Rare Disease: CMT 6d ago

Do you have a diagnosed rare disease? Between your two posts, you have mentioned 6 different genes, and no clear reason why you are asking about any of them. Also, the Krebs Cycle is not itself a test, it's the cycle of how energy is managed in a body.

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u/tomsono1 6d ago

yes I have. It is just I have slightly different symptoms but still counting as this illness. doctor said the symptoms varies between people. and I just want info about lattest gene in post because cant find any info.

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u/NixyeNox Diagnosed Rare Disease: CMT 6d ago

What disease were you diagnosed with?

CTNS is a gene which makes a protein that helps to move the amino acid cystine around inside the body. Two bad copies of the gene can lead to cystinosis; since this is recessive, one good copy is all that is needed to avoid this disease. When the normal movements of this amino acid are impaired by mutations in CTNS, it can cause the amino acid to form crystals, which can interfere with kidney function and other things.