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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 loci
Locus typeCount
Gen 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
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

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