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Items: 17

1.

Thyroid hypoplasia

Developmental hypoplasia of the thyroid gland. [from HPO]

MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
2.

Congenital hypothyroidism

Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.
[from GHR]

MedGen UID:
41344
Concept ID:
C0010308
Congenital Abnormality; Disease or Syndrome
3.

Hypothyroidism

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include. -Fatigue. -Weight gain. -A puffy face. -Cold intolerance. -Joint and muscle pain. -Constipation. -Dry skin. -Dry, thinning hair. -Decreased sweating. -Heavy or irregular menstrual periods and fertility problems. -Depression. -Slowed heart rate. To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
4.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
5.

Congenital hypothyroidism

A type of hypothyroidism with congenital onset. [from HPO]

MedGen UID:
504626
Concept ID:
CN000797
Finding
6.

Hypothyroidism, congenital, nongoitrous, 1

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 Hypothyroidism CHNG2 (218700) is caused by mutation in the PAX8 gene (167415) on chromosome 2q12-q14; CHNG3 (609893) maps to a locus on chromosome 15q25.3; CHNG4 (275100) is caused by mutation in the TSHB gene (188540) on chromosome 1p13; CHNG5 (225250) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q34; and CHNG6 (614450) is caused by mutation in the THRA gene (190120) on chromosome 17q21.1. [from OMIM]

MedGen UID:
487729
Concept ID:
C3493776
Disease or Syndrome
7.

Thyroid hypoplasia

Developmental hypoplasia of the thyroid gland. [from HPO]

MedGen UID:
425809
Concept ID:
CN005279
Finding
8.

Hypothyroidism

MedGen UID:
413085
Concept ID:
C2750951
Finding
9.

Thyroid agenesis

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism). [from OMIM]

MedGen UID:
289647
Concept ID:
C1563716
Congenital Abnormality; Disease or Syndrome
10.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
11.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
12.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
13.

Abnormality of the thyroid gland

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. Thyroid problems include. -Goiter - enlargement of the thyroid gland. -Hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs. -Hypothyroidism - when your thyroid gland does not make enough thyroid hormones. -Thyroid cancer. -Thyroid nodules - lumps in the thyroid gland. -Thyroiditis - swelling of the thyroid. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
52747
Concept ID:
C0040128
Disease or Syndrome
14.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
15.

Dwarfism

A dwarf is a person of short stature - under 4' 10 as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.  [from MedlinePlus]

MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality; Disease or Syndrome
16.

Endocrine (child onset)

MedGen UID:
851474
Concept ID:
CN232539
Finding
17.

Mild short stature

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [from HPO]

MedGen UID:
461427
Concept ID:
C3150077
Finding
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