CEP128 gene related symptoms and diseases

All the information presented here about the CEP128 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CEP128 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal eyelid morphology Very Common - Between 80% and 100% cases
Abnormality of the hair Very Common - Between 80% and 100% cases
Reduced tendon reflexes Very Common - Between 80% and 100% cases
Oligodontia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CEP128 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Anosmia
  • Goiter
  • Abnormality of vision
  • Growth abnormality
  • Intestinal obstruction
  • Tracheoesophageal fistula
  • Abnormality of the thyroid gland
  • Prolonged neonatal jaundice

And 50 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CEP128 gene

Here you will find a list of rare diseases related to the CEP128. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1


Alternate names

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance, hypothyroidism, congenital, due to tsh resistance, hypothyroidism, nonautoimmune, rtsh, thyrotropin resistance, hypothyroidism due to unresponsiveness to thyrotropin, thyroid-stimulating hormone, resistance to

Description

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

Most common symptoms of HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

SOURCES: OMIM ORPHANET




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