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IllnessMartsolf syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Martsolf syndrome comprising altogether 2 curated genes according to the clinical signs

ID
MP9238
Number of genes
15 Accredited laboratory test
Examined sequence length
9,0 kb (Core-/Core-canditate-Genes)
29,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
RAB18621AR
RAB3GAP12946AR
RAB3GAP24182AR
TBC1D201212AR
ALDH18A12388AD, AR
DHCR71428AR
ERCC1972AR
ERCC22283AR
ERCC53561AR
ERCC64482AR
ERCC81191AR
ITPA585AR
PEX11B780AR
PYCR1960AR
SIL11386AR

Informations about the disease

Synonyms
  • Comp.: RAB18 deficiency + (Warburg-)micro syndrome
  • Alias: Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom
  • Alias: RAB18-Defizienz
  • Allelic: Cockayne syndrome, type B (ERCC6)
  • Allelic: De Sanctis-Cacchione syndrome (ERCC6)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Premature ovarian failure 11 (ERRC6)
  • Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
  • Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
  • Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Allelic: Xeroderma pigmentosum, group D (ERCC2)
  • Allelic: Xeroderma pigmentosum, group G (ERCC5)
  • Allelic: Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Cutis laxa, AD 3 (ALDH18A1)
  • Cutis laxa, AR, type IIB (PYCR1)
  • Cutis laxa, AR, type IIIA (ALDH18A1)
  • Cutis laxa, AR, type IIIB (PYCR1)
  • Developmental + epileptic encephalopathy 35 (ITPA)
  • Inosine triphosphatase deficiency (ITPA)
  • Marinesco-Sjogren syndrome (SIL1)
  • Martsolf syndrome (RAPGAP1)
  • Martsolf syndrome (RAPGAP2)
  • Peroxisome biogenesis disorder 14B (PEX11B)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Warburg micro syndrome type 1 (RAB3GAP1)
  • Warburg micro syndrome type 2 (RAB3GAP2)
  • Warburg micro syndrome type 3 (RAB18)
  • Warburg micro syndrome type 4 (TBC1D20)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined