Have a symptom?
See what questions
a doctor would ask.
Dictionary » Sphingomyelinase deficiency

Sphingomyelinase deficiency

Introduction: Sphingomyelinase deficiency

Description of Sphingomyelinase deficiency

Sphingomyelinase deficiency (medical condition): A rare inherited biochemical disorder involving the deficiency of an...more »

See also:

Niemann-Pick disease:
  »Introduction: Niemann-Pick disease
  »Symptoms of Niemann-Pick disease

Sphingomyelinase deficiency: A group of diseases marked by autosomal recessive inheritance and accumulation of sphingomyelin in cells of the RETICULOENDOTHELIAL SYSTEM. They are divided into 5 subtypes: A-E. Type A (classic infantile form) is caused by a deficiency of SPHINGOMYELIN PHOSPHODIESTERASE and presents at age 6-12 months with progressive hepatosplenomegaly and neurologic deterioration. Type B (non-neuronopathic form) presents in childhood with hepatosplenomegaly and pulmonary infiltrates. Type C (chronic neuronopathic form) is caused by defective intracellular cholesterol transport and is divided into severe infantile, late infantile, juvenile, and neonatal hepatitis forms. Type D (Nova Scotian Variant) is phenotypically similar to type C. Type E is an adult non-neuronopathic form. (From Menkes, Textbook of Child Neurology, 5th ed, pp101-4)
Source: Diseases Database

Sphingomyelinase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Sphingomyelinase deficiency:

Sphingomyelinase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Sphingomyelinase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Sphingomyelinase deficiency, or a subtype of Sphingomyelinase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)


Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Sphingomyelinase deficiency as a "rare disease".

Source - Orphanet

Sphingomyelinase deficiency as a Disease

Sphingomyelinase deficiency: Another name for Niemann-Pick disease (or close medical condition association).
  »Introduction: Niemann-Pick disease
  »Symptoms of Niemann-Pick disease

Sphingomyelinase deficiency: Related Diseases

Sphingomyelinase deficiency: Sphingomyelinase deficiency is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Sphingomyelinase deficiency (Niemann-Pick disease)

Some of the symptoms of Sphingomyelinase deficiency incude:

Sphingomyelinase deficiency: Article Excerpts about Niemann-Pick disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

In 1914, German pediatrician Albert Niemann described a young child with brain and nervous system impairment. Later, in the 1920's,...(Source: Genes and Disease by the National Center for Biotechnology)

NINDS Niemann-Pick Disease Information Page: NINDS (Excerpt)

Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in ... (Source: excerpt from NINDS Niemann-Pick Disease Information Page: NINDS)

Sphingomyelinase deficiency: Related Disease Topics

These medical disease topics may be related to Sphingomyelinase deficiency:

Terms associated with Sphingomyelinase deficiency:

Terms Similar to Sphingomyelinase deficiency:

Source: Diseases Database

Source - NIH

The following terms can be used for Sphingomyelinase deficiency

Source: CRISP

External links related to: Sphingomyelinase deficiency

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • Dark-field microscope
  • Dark-ground illumination
  • Darkened stool
  • Darkened sweat
  • Darkened urine
  • Darkening of body hair
  • Darkness
  • Darkschewitsch
  • Darling
  • Darling disease
  • Darmtuberculose
  • Darna palliritta poisoning

    Find out more

    Search to find out more about Sphingomyelinase deficiency:

    powered by

    By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

    Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise