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Results: 10

1.

Poor prognosis

MedGen UID:
548766
Concept ID:
C0278252
Finding
2.

Aggressive behavior

Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. [from HPO]

MedGen UID:
504570
Concept ID:
CN000675
Finding
3.

Glutaric aciduria, type 2

Glutaric aciduria II (GA II) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). [from OMIM]

MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
4.

Aggressive behavior

Behavior which may be manifested by destructive and attacking action which is verbal or physical, by covert attitudes of hostility or by obstructionism. [from MeSH]

MedGen UID:
1375
Concept ID:
C0001807
Mental or Behavioral Dysfunction
5.

Neuroepithelial neoplasm

Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5) [from MeSH]

MedGen UID:
60215
Concept ID:
C0206715
Neoplastic Process
6.

Neuroectodermal neoplasm

A tumor of the central or peripheral nervous system. [from NCI]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
7.

Ependymoma

Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). [from OMIM]

MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
8.

Nervous tissue neoplasm

Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. [from MeSH]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
9.

Neoplasm of brain

A benign or malignant neoplasm that arises from or metastasizes to the brain. [from NCI]

MedGen UID:
14216
Concept ID:
C0006118
Neoplastic Process
10.

Glioma

A general term for many types of tumors of the central nervous system [from CHV]

MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process

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