Abnormality of the skeletal system, and Hypothyroidism

Diseases related with Abnormality of the skeletal system and Hypothyroidism

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Hypothyroidism that can help you solving undiagnosed cases.


Top matches:

Low match THIOUREA TASTING; THIOT


The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; {604791}), which contains at least 25 functional genes (Kim et al., 2005).Humans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. Kim and Drayna (2004) provided an historical review of the subject.Propylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste (Bartoshuk et al., 1994; Drewnowski and Rock, 1995).

Related symptoms:

  • Neoplasm
  • Hypothyroidism
  • Abnormality of the endocrine system


SOURCES: OMIM MENDELIAN

More info about THIOUREA TASTING; THIOT

Low match SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK


Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Hypothyroidism
  • Proportionate short stature


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK

Low match ACETAZOLAMIDE-RESPONSIVE MYOTONIA


Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).

ACETAZOLAMIDE-RESPONSIVE MYOTONIA Is also known as painful myotonia|acetazolamide-responsive congenital myotonia|acz-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome|acz-responsive myotonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Hypertonia
  • Hypothyroidism
  • Myalgia


SOURCES: ORPHANET MENDELIAN

More info about ACETAZOLAMIDE-RESPONSIVE MYOTONIA

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Other less relevant matches:

Low match THYROID DYSHORMONOGENESIS 6; TDH6


THYROID DYSHORMONOGENESIS 6; TDH6 Is also known as thyroid hormonogenesis, genetic defect in, 6|hypothyroidism, congenital, due to dyshormonogenesis, 6

Related symptoms:

  • Hypothyroidism
  • Congenital hypothyroidism


SOURCES: MESH OMIM MENDELIAN

More info about THYROID DYSHORMONOGENESIS 6; TDH6

Low match THYROID DYSHORMONOGENESIS 2A; TDH2A


Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG ) to form iodotyrosine.

THYROID DYSHORMONOGENESIS 2A; TDH2A Is also known as thyroid hormonogenesis, genetic defect in, 2a|thyroid peroxidase deficiency|hypothyroidism, congenital, due to dyshormonogenesis, 2a|iodide peroxidase deficiency

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Goiter
  • Congenital hypothyroidism
  • Thyroid defect in oxidation and organification of iodide


SOURCES: OMIM MESH MENDELIAN

More info about THYROID DYSHORMONOGENESIS 2A; TDH2A

Low match HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH


Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. The condition may be confused with hyperthyroidism or thyroid hormone resistance syndromes, prompting repeated unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995).

HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH Is also known as fdh|euthyroid hyperthyroxinemia 1

Related symptoms:

  • Hypothyroidism
  • Hyperlipidemia
  • Hypercholesterolemia
  • Goiter
  • Hyperthyroidism


SOURCES: MESH OMIM MENDELIAN

More info about HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH

Low match THYROID DYSHORMONOGENESIS 5; TDH5


THYROID DYSHORMONOGENESIS 5; TDH5 Is also known as thyroid hormonogenesis, genetic defect in, 5|hypothyroidism, congenital, due to dyshormonogenesis, 5

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Goiter


SOURCES: MESH OMIM MENDELIAN

More info about THYROID DYSHORMONOGENESIS 5; TDH5

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5


Related symptoms:

  • Growth delay
  • Intellectual disability, severe
  • Abnormality of metabolism/homeostasis
  • Intellectual disability, progressive
  • Congenital hypothyroidism


SOURCES: OMIM MESH MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

Low match THYROID DYSHORMONOGENESIS 4; TDH4


Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase.

THYROID DYSHORMONOGENESIS 4; TDH4 Is also known as hypothyroidism, congenital, due to dyshormonogenesis, 4|thyroid hormonogenesis, genetic defect in, 4|iodotyrosine dehalogenase deficiency|deiodinase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypothyroidism
  • Goiter


SOURCES: OMIM MESH MENDELIAN

More info about THYROID DYSHORMONOGENESIS 4; TDH4

Low match GENETIC TRANSIENT CONGENITAL HYPOTHYROIDISM


Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.

Related symptoms:

  • Hypothyroidism
  • Goiter
  • Congenital hypothyroidism
  • Increased thyroid-stimulating hormone level
  • Decreased T3/T4 ratio


SOURCES: ORPHANET MENDELIAN

More info about GENETIC TRANSIENT CONGENITAL HYPOTHYROIDISM

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Hypothyroidism

Symptoms // Phenotype % cases
Congenital hypothyroidism Common - Between 50% and 80% cases
Goiter Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Intellectual disability Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Hypothyroidism. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Thyroid hypoplasia Intellectual disability, progressive Intellectual disability, severe Ectopic thyroid Global developmental delay Euthyroid hyperthyroxinemia Thyroid hormone receptor defect Graves disease Hyperthyroidism Hypercholesterolemia Hyperlipidemia Thyroid defect in oxidation and organification of iodide Increased thyroid-stimulating hormone level Neoplasm Skeletal muscle hypertrophy Ophthalmoparesis Myotonia EMG abnormality Chest pain Muscle cramps Ophthalmoplegia Myalgia Hypertonia Dysphagia Gait disturbance Proportionate short stature Delayed skeletal maturation Short stature Abnormality of the endocrine system Decreased T3/T4 ratio



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