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Results: 1 to 20 of 43

1.

Pelizaeus-Merzbacher disease

PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Female carriers may manifest mild to moderate signs of the disease. [from GeneReviews]

MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome
2.

Sclerosis

hardening of the tissue [from CHV]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
3.

Tuberous sclerosis syndrome

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas); brain (cortical tubers, subependymal nodules [SENs] and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GeneReviews]

MedGen UID:
22518
Concept ID:
C0041341
Neoplastic Process
4.

Error occurred: cannot get document summary

ID:
442086

5.

Cortical tubers

MedGen UID:
369896
Concept ID:
C1968959
Finding
6.

Tuberous sclerosis 2

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). [from OMIM]

MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
7.

Tuberous sclerosis 1

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas); brain (cortical tubers, subependymal nodules [SENs] and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GeneReviews]

MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
8.

G2 to M Transition Process

Progression from G2 phase to M phase of the standard mitotic cell cycle. (From Gene Ontology) [from NCI]

MedGen UID:
274546
Concept ID:
C1517346
Molecular Function
9.

Malformation of cortical development

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal CELL PROLIFERATION or APOPTOSIS; abnormal neuronal migration; and abnormal establishment of cortical organization via neurite extension, synaptogenesis, or neuronal maturation. As well as mutations effecting these developmental processes directly, there are a variety of inborn metabolic errors, such as PEROXISOMAL DISORDERS and mitochondrial and pyruvate metabolic disorders which effect them secondarily and also exhibit these malformations. They are common causes of EPILEPSY and developmental delay and are often a component of multiple congenital anomalies. [from MeSH]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
10.

Acute Myeloid Leukemia (AML-M2)

An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001) [from NCI]

MedGen UID:
361829
Concept ID:
C1879321
Neoplastic Process
11.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
12.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
13.

Hemimegalencephaly

MedGen UID:
140910
Concept ID:
C0431391
Congenital Abnormality
14.

Congenital anomaly of nervous system

Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis. [from MeSH]

MedGen UID:
105425
Concept ID:
C0497552
Disease or Syndrome
15.

Neurodegenerative Disorders

A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. [from NCI]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
16.

Neurocutaneous syndrome

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. [from MeSH]

MedGen UID:
82706
Concept ID:
C0265316
Congenital Abnormality
17.

Schizencephaly

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100). [from OMIM]

MedGen UID:
78606
Concept ID:
C0266484
Disease or Syndrome
18.

Polymicrogyria

MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
19.

Cranioschisis

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
20.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function

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