Format

Send to:

Choose Destination

Search results

Items: 3

1.

Niemann-Pick disease, type B

Acid sphingomyelinase (ASM) deficiency has been categorized in the past as either neuronopathic (Niemann-Pick disease type A [NPD-A]), with death in early childhood, or non-neuronopathic (Niemann-Pick disease type B [NPD-B]). While forms intermediate to these two extremes occur, all ASM deficiency that is not NPD-A is designated in this review as NPD-B, despite its wide range of manifestations and severity. The first symptom in NPD-A is hepatosplenomegaly, usually noted by age three months; over time the liver and spleen become massive. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most children succumb before the third year. NPD type B, later in onset and milder in manifestations than NPD type A, is characterized by hepatosplenomegaly with progressive hypersplenism and stable liver dysfunction, gradual deterioration in pulmonary function, osteopenia, and atherogenic lipid profile. Progressive and/or clinically significant neurologic manifestations occur infrequently. Survival to adulthood can occur. [from GeneReviews]

MedGen UID:
78651
Concept ID:
C0268243
Disease or Syndrome
2.

Congenital disorder of glycosylation type 1E

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579). [from OMIM]

MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
3.

Abnormality of the macula

An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina. [from HPO]

MedGen UID:
446392
Concept ID:
CN001036
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Support Center