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IllnessMartsolf syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Martsolf syndrome comprising altogether 15 curated genes according to the clinical signs

ID
MP9238
Number of loci
Loci typeCount
Gen15
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
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
RAB18621NM_021252.5AR
RAB3GAP12946NM_012233.3AR
RAB3GAP24182NM_012414.4AR
TBC1D201212NM_144628.4AR
ALDH18A12388NM_002860.4AD, AR
DHCR71428NM_001360.3AR
ERCC1972NM_202001.3AR
ERCC22283NM_000400.4AR
ERCC53561NM_000123.4AR
ERCC64482NM_000124.4AR
ERCC81191NM_000082.4AR
ITPA585NM_033453.4AR
PEX11B780NM_003846.3AR
PYCR1960NM_006907.4AR
SIL11386NM_022464.5AR

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

Bioinformatics and clinical interpretation

No text defined