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Items: 16

1.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
2.

Thyroid Hormone Resistance

MedGen UID:
468417
Concept ID:
CN118820
Disease or Syndrome
3.

Thyroid hormone receptor defect

Thyroid hormone resistance because of a defect in the thyroid hormone receptor. [from HPO]

MedGen UID:
424854
Concept ID:
C2940786
Congenital Abnormality; Disease or Syndrome
4.

Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. [from ORDO]

MedGen UID:
831067
Concept ID:
CN204472
Disease or Syndrome
5.

Emotional lability

MedGen UID:
504567
Concept ID:
CN000669
Finding
6.

Short stature, idiopathic, X-linked

Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). [from OMIM]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality; Disease or Syndrome
7.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
8.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
9.

Hyperactivity

Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders. [from MeSH]

MedGen UID:
98406
Concept ID:
C0424295
Finding; Mental or Behavioral Dysfunction
10.

Short stature

Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual. [from NCI]

MedGen UID:
87607
Concept ID:
C0349588
Finding
11.

Infantile neuroaxonal dystrophy

PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability. [from GeneReviews]

MedGen UID:
82852
Concept ID:
C0270724
Disease or Syndrome
12.

Mood swings

An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels. [from HPO]

MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
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.

Hyperthyroidism

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 is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism. Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Grave's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone. The symptoms can vary from person to person. They may include. -Being nervous or irritable. -Mood swings. -Fatigue or muscle weakness. -Heat intolerance. -Trouble sleeping. -Hand tremors. -Rapid and irregular heartbeat. -Frequent bowel movements or diarrhea. -Weight loss. -Goiter, which is an enlarged thyroid that may cause the neck to look swollen. To diagnose hyperthyroidism, your doctor will look at your symptoms, blood tests, and sometimes a thyroid scan. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
15.

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
16.

Dystransthyretinemic euthyroidal hyperthyroxinemia

Dystransthyretinemic hyperthyroxinemia is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by Moses et al., 1990). [from OMIM]

MedGen UID:
442573
Concept ID:
C2750824
Disease or Syndrome
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