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Items: 9

1.

Infant death

The death of a live-born INFANT within its first year of life. [from MeSH]

MedGen UID:
639821
Concept ID:
C0549159
Finding
2.

Hypoplasia

Incomplete or underdevelopment of a tissue or organ. [from NCI]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
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.

Sudden infant death

MedGen UID:
603675
Concept ID:
C0425045
Finding
5.

Addison 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 can have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes.
[from GHR]

MedGen UID:
357032
Concept ID:
C1868690
Disease or Syndrome
6.

Adrenal hypoplasia

MedGen UID:
337539
Concept ID:
C1846223
Finding
7.

Congenital adrenal hypoplasia, X-linked

NR0B1- related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion ofNR0B1(causing X-linked AHC) andGK(causing glycerol kinase deficiency), and in some cases deletion ofDMD(causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to includeDMDor when larger deletions extend distally to includeIL1RAPL1andDMD. [from GeneReviews]

MedGen UID:
87442
Concept ID:
C0342482
Disease or Syndrome
8.

Congenital adrenal hypoplasia

MedGen UID:
65094
Concept ID:
C0220766
Congenital Abnormality
9.

Adrenocortical hypoplasia

MedGen UID:
870278
Concept ID:
C4024719
Anatomical Abnormality
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