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Results: 14

1.

Congenital absence of adrenal gland

MedGen UID:
472999
Concept ID:
C0266273
Disease or Syndrome
2.

Adrenal hypoplasia

MedGen UID:
411204
Concept ID:
C2746070
Disease or Syndrome
3.

Sudden infant death syndrome

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. [from OMIM]

MedGen UID:
52548
Concept ID:
C0038644
Disease or Syndrome
4.

Death

Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions. [from MeSH]

MedGen UID:
3696
Concept ID:
C0011065
5.

Infant death

MedGen UID:
639821
Concept ID:
C0549159
Finding
6.

Sudden infant death

MedGen UID:
603675
Concept ID:
C0425045
Finding
7.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
8.

Congenital adrenal hypoplasia

A type of `adrenal hypoplasia` (HP:0000835) with `congenital onset` (HP:0003577). [from HPO]

MedGen UID:
506195
Concept ID:
CN007245
Finding
9.

Adrenal hypoplasia

Developmental hypoplasia of the `adrenal glands` (FMA:9604). [from HPO]

MedGen UID:
504618
Concept ID:
CN000781
Finding
10.

Error occurred: cannot get document summary

ID:
430752

11.

Addison's disease

Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems. The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair. Other signs and symptoms of autoimmune Addison disease include low levels of sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. Affected individuals may also have a shortage of red blood cells (anemia) and an increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia). Autoimmune Addison disease can lead to a life-threatening adrenal crisis, characterized by vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock. The adrenal crisis is often triggered by a stressor, such as surgery, trauma, or infection. Individuals with autoimmune Addison disease or their family members often have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes.
[from GHR]

MedGen UID:
357032
Concept ID:
C1868690
Disease or Syndrome
12.

Congenital adrenal hypoplasia, X-linked

X-linked adrenal hypoplasia congenita (X-linked AHC) is characterized by infantile-onset acute primary adrenal insufficiency at an average age of three weeks in approximately 60% of affected individuals. Onset in approximately 40% is in childhood. A few individuals present in adulthood with delayed-onset adrenal failure or partial hypogonadism due to partial forms of X-linked AHC. Adrenal insufficiency typically presents acutely in male infants with vomiting, feeding difficulty, dehydration, and shock caused by a salt-wasting episode. Hypoglycemia (sometimes presenting with seizures) or isolated salt loss may be the first symptom of X-linked AHC. Cortisol may be low or within the normal range, which is inappropriately low for a sick child. In older children, adrenal failure may be precipitated by intercurrent illness or stress. If untreated, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. Affected males typically have delayed puberty (onset age >14 years) or arrested puberty caused by hypogonadotropic hypogonadism (HH). Early pubertal development with pubertal arrest has been reported in some cases. Males with classic X-linked AHC are infertile despite treatment with exogenous gonadotropin therapy or pulsatile gonadotropin-releasing hormone (GnRH), although testicular sperm extraction-intracytoplasmic sperm injection (TESE-ICSI) has been successful in one case. Carrier females may very occasionally have symptoms of adrenal insufficiency or hypogonadotropic hypogonadism as a result of skewed X-chromosome inactivation. [from GeneReviews]

MedGen UID:
87442
Concept ID:
C0342482
Congenital Abnormality
13.

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
14.

Adrenocortical hypoplasia

MedGen UID:
446900
Concept ID:
CN007188
Finding

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