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1.

Glycogen storage disease, type IV

The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence (FADS) with decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. [from GeneReviews]

MedGen UID:
6642
Concept ID:
C0017923
Disease or Syndrome
2.

Glycogen storage disease

A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. [from MeSH]

MedGen UID:
6639
Concept ID:
C0017919
Disease or Syndrome
3.

Storage disease

MedGen UID:
541100
Concept ID:
C0267971
Disease or Syndrome
4.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
5.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI_NCI-GLOSS]

MedGen UID:
5539
Concept ID:
C0019409
6.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
7.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
8.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
9.

Cirrhosis of liver

Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to : -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
10.

Glycogen storage disease due to glycogen branching enzyme deficiency

MedGen UID:
799008
Concept ID:
CN204783
Disease or Syndrome
11.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
12.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen. [from HPO]

MedGen UID:
504839
Concept ID:
CN001310
Finding
13.

Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

MedGen UID:
504826
Concept ID:
CN001275
Finding
14.

Phenotypic variability

MedGen UID:
381249
Concept ID:
C1853719
Finding
15.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
16.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
17.

Gorham's disease

MedGen UID:
45248
Concept ID:
C0029438
Disease or Syndrome
18.

Hepatosplenomegaly

An abnormal enlargement of both the liver and spleen. [from NCI]

MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
19.

Gerstmann-Straussler-Scheinker syndrome

Genetic prion diseases generally manifest with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. Familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome, and fatal familial insomnia (FFI) represent the core phenotypes of genetic prion disease. Note: A fourth clinical phenotype, known as Huntington disease like-1 (HDL-1) has been proposed, but this is based on a single report, and the underlying pathologic features would categorize it as GSS. Although it is clear that these four subtypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset ranges from the third to ninth decade of life. The course ranges from a few months to several years (typically 5-7 years; in rare instances, >10 years). [from GeneReviews]

MedGen UID:
4886
Concept ID:
C0017495
Disease or Syndrome
20.

Endoglycosidases

MedGen UID:
760845
Concept ID:
C3537242
Pharmacologic Substance

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