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Items: 5

1.

Mucolipidosis type II

GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß. [from GeneReviews]

MedGen UID:
435914
Concept ID:
C2673377
Disease or Syndrome
2.

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34. [from OMIM]

MedGen UID:
934642
Concept ID:
C4310675
Disease or Syndrome
3.

Ossification of the posterior longitudinal ligament of the spine

Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016). [from OMIM]

MedGen UID:
355447
Concept ID:
C1865343
Disease or Syndrome
4.

HTLV-1-associated myelopathy-tropical spastic paraparesis

A progressive chronic inflammatory disease of the central nervous system with the aetiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterised by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. [from SNOMEDCT_US]

MedGen UID:
18298
Concept ID:
C0030481
Disease or Syndrome
5.

Myelopathy

A non neoplastic or neoplastic disorder that affects the spinal cord. [from NCI]

MedGen UID:
11550
Concept ID:
C0037928
Disease or Syndrome
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