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Copyright V. Ventruto / A. Di Luccio
Genus database
18330
Niemann-Pick A
Eponyms:
Inheritance:
acid sphingomyelinase defect
ASM defect
NPD
SMPD 1
SMPD1
sphingomyelin phosphodiesterase 1
acid lysosomal defect
sphingomyelinlipidosis A
autosomal recessive
Semeiological Metabolic-neuro-ocular disorder. Hepatosplenomegaly, acute neurologic deterioration, myoclonus, cherry red
macular changes, nodular skin. Occasionally foetal ascites/oedema.
Synthesis:
Group
Sub group
Signs:
DERMATOLOGICAL DISORDERS
cutis, nodules
cutis, nodules; skin polyps; warty, verrucous
lesions
xantoma cutis
GASTROINTESTINAL DISORDERS
liver dysfunctions, liver anomalies
ascites
hepatomegaly, liver enlarged
jaundice cholestatic, cholestasis
HEMOPOIETIC-LYMPHORETICULAR SYSTEM
DISORDERS
spleen, anomalies
splenomegaly, hepatosplenomegaly
LABORATORY DATA
biochemical markers
metabolic defect
chromosomal assignment
chromosome 11p localization
foetal-amniotic biochemical data
sphingomyelinase, low activity (foetal)
gene, structural-functional anomalies
gene analysis-DNA analysis
SMPD1 (NPD) sphingomyelin
phosphodiesterase-1, acid lysosomal, gene
chr.11p15.4-p15.1
lymphoreticular system, changes
histio-lymphocytes, vacuols, inclusions
myelo-erythropoietic disorders
anaemia, no haemolytic
plasma lipids, anomalies
lipoprotein, lipid disorders
tissue, biochemical changes
fibroblasts, changes
lysosomal disorders
sphingomyelin, high levels
sphingomyelinase acid, low activity
NEUROLOGICAL DISORDERS
basal ganglia, disorders
myoclonus, including jerks
mental retardation
mental retardation
neurological dysfunctions
cerebellar ataxia, sensory ataxia
choreoathetosis, coordination disorders,
apraxia/dyspraxia not including: ocular
seizures, convulsions, epilepsy
Niemann-Pick A
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Copyright V. Ventruto / A. Di Luccio
Genus database
performance changes, not including mental
retardation
dementia
OCULAR DISORDERS
choroidoretinal defects
macular cherry red spot
OTHERS
inheritance
inheritance, autosomal recessive
supergroups
gastrointestinal-oculo-skeleal disorders
hemato-neuro disorders
neuro-oculo disorders
PRENATAL-NEONATAL MODIFIED DATA
foetal changes
foetal changes, recognized by laboratory data
prenatal diagnosis
foetal biopsy
prenatal diagnosis, metabolic
prenatal diagnosis, molecular
RESPIRATORY DISORDERS
respiratory structures, thorax defect
lung fibrosis
SKELETAL DISORDERS
stature, growth, modified habitus
growth delayed, failure to thrive, growth
retardation
Super group:
ataxia-mental retardation
gastrointestinal-oculo-skeletal disorders
hemato-neuro disorders
neuro-ocular disorders
Super aggreg. FOETAL CHANGES
foetal changes, recognized by laboratory data
Aggregations:
METABOLIC DISORDERS
lipoprotein, lipid disorders
lysosomal disorders
Differential
diagnosis:
Niemann-Pick A
27260
10330
10335
10390
10490
10500
14939
16989
16990
17000
17001
17010
17980
18340
18350
28797
18360
18370
23160
28787
24940
24941
26960
foetal hepatitis B infection
galactosialidosis, infantile, late type
galactosialidosis, juvenile type
gangliosidosis GM1-I
Gaucher, juvenile cerebral type
Gaucher, juvenile noncerebral type
lipidosis dystonic, adult type
mucolipidosis I
mucolipidosis II
mucolipidosis III
mucolipidosis III, variant form
mucolipidosis IV
nephrosialidosis
Niemann-Pick B
Niemann-Pick C
Niemann-Pick C2
Niemann-Pick D-E
Niemann-Pick F
Sandhoff disease
striatonigral degeneration, infantile
Tay-Sachs disease
Tay-Sachs disease, AB variant
Wolman disease
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Genus database
Bibliography
Niemann-Pick A
Copyright V. Ventruto / A. Di Luccio
OMIM ID: 257200
OMIM ID: 607608
Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 124-125
J.L.Spitz: Genodermatoses. Lippincott William Wilkins Ed. 2006
Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 618
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.24562458,2007
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.747766,2007
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