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IllnessAcid sphingomyelinase deficiency - Niemann-Pick disease type A, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Acid sphingomyelinase deficiency - Niemann-Pick disease, type A, comprising altogether 23 curated genes according to the clinical signs

ID
NP0919
Number of genes
24 Accredited laboratory test
Examined sequence length
1,9 kb (Core-/Core-canditate-Genes)
42,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SMPD11896NM_000543.5AR
ASAH11188NM_177924.5AR
G6PC11074NM_000151.4AR
GALNS1569NM_000512.5AR
GBA11611NM_001005741.3AR
GNPTAB3771NM_024312.5AR
GNPTG918NM_032520.5AR
GNS1659NM_002076.4AR
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
HGSNAT1908NM_152419.3AR
IDS1653NM_000202.8XLR
IDUA1962NM_000203.5AR
LIPA1200NM_000235.4AR
MCOLN11743NM_020533.3AR
NAGLU2232NM_000263.4AR
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
PRF11668NM_001083116.3AR
SGSH1509NM_000199.5AR
SLC37A41291NM_001164277.2AR
STX11864NM_003764.4AR
STXBP21773NM_006949.4AR
UNC13D3273NM_199242.3AR

Informations about the disease

Synonyms
  • Alias: Acid sphingomyelinase deficiency (SMPD1)
  • Allelic: Aplastic anemia (PRF1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Lymphoma, non-Hodgkin (PRF1)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Retinitis pigmentosa 73 (HGSNAT)
  • Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Cholesteryl ester storage disease (LIPA)
  • Farber lipogranulomatosis (ASAH1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Gaucher disease, perinatal lethal (GBA)
  • Gaucher disease, types I, II, III, IIIC (GBA)
  • Glycogen storage disease Ia (G6PC1)
  • Glycogen storage diseases Ib + Ic (SLC37A4)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
  • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
  • Hex A pseudodeficiency (HEXA)
  • Immune dysregulation + systemic hyperinflammation syndrome (RC3H1)
  • Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
  • Mucolipidosis III gamma (GNPTG)
  • Mucolipidosis IV (MCON)
  • Mucopolysaccharidosis II (IDS)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis Is Mucopolysaccharidosis Ih, Ih/s + Is (IDUA)
  • Mucopolysaccharidosis type IIIA [Sanfilippo A] (SGSH)
  • Mucopolysaccharidosis type IIIB [Sanfilippo B] (NAGLU)
  • Mucopolysaccharidosis type IIIC [Sanfilippo C] (HGSNAT)
  • Mucopolysaccharidosis type IIID (GNS)
  • Niemann-Pick disease, type A + B (SMPD1)
  • Niemann-Pick disease, type C2 (NPC2)
  • Niemann-Pick disease, types C1 + D (NPC1)
  • Sandhoff disease, infantile, juvenile, and adult forms /HEXB)
  • Tay-Sachs disease (HEXA)
  • Wolman disease (LIPA)
Heredity, heredity patterns etc.
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined