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Items: 15

1.

Glucocorticoid deficiency with achalasia

Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
[from GHR]

MedGen UID:
82889
Concept ID:
C0271742
Disease or Syndrome
2.

Familial abdominal aortic aneurysm 1

An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm. [from MeSH]

MedGen UID:
56524
Concept ID:
C0162871
Disease or Syndrome
3.

Accumulation

An increase of substance (e.g., proteinaceous fluid and glycogen) in either the intracellular space, extracellular space, or within a hollow organ or structure. [from NCI_CDISC]

MedGen UID:
883922
Concept ID:
C4055506
Finding
4.

SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 2, PSEUDOGENE

MedGen UID:
854820
Concept ID:
C3888213
Finding
5.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Neoplastic Process
6.

Strand breaks

MedGen UID:
549441
Concept ID:
C0301647
Molecular Function
7.

Pontocerebellar hypoplasia type 2

TSEN54-related pontocerebellar hypoplasia (PCH) includes three PCH types (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three types (which differ mainly in life expectancy) were thought to be distinct entities before their molecular basis was known. Children with PCH2 usually succumb before age ten years, whereas those with PCH4 and 5 usually succumb as neonates. Children with PCH2 have generalized clonus, incoordination of sucking and swallowing, impaired motor and cognitive development with lack of voluntary motor development, central visual impairment, and an increased risk for rhabdomyolysis complicating severe infections. Epilepsy is present in approximately 50%. Neonates with PCH4 often have seizures, multiple joint contractures (''arthrogryposis''), generalized clonus, and central respiratory impairment. PCH5, which resembles PCH4, has been described in one family. [from GeneReviews]

MedGen UID:
420956
Concept ID:
C2932714
Congenital Abnormality; Disease or Syndrome
8.

Positive

A presence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure.  [from HL7]

MedGen UID:
254858
Concept ID:
C1446409
Finding
9.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
10.

Saethre-Chotzen syndrome

Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unilateral coronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus). Syndactyly of digits two and three of the hand is variably present. Intelligence is usually normal, although those with large genomic deletions are more likely to have developmental delays. Less common manifestations of SCS include short stature, parietal foramina, vertebral fusions, radioulnar synostosis, cleft palate, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated distal hallucal phalanx, and congenital heart malformations. [from GeneReviews]

MedGen UID:
64221
Concept ID:
C0175699
Disease or Syndrome
11.

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
12.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
13.

DNA Breaks

Interruptions in the sugar-phosphate backbone of DNA. [from MeSH]

MedGen UID:
354581
Concept ID:
C1721104
Molecular Function
14.

DNA Breaks, Double-Stranded

Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently. [from MeSH]

MedGen UID:
267994
Concept ID:
C1511667
Cell or Molecular Dysfunction
15.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
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