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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHutchinson-Gilford progeria syndrome; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Hutchinson-Gilford progeria syndrome comprising 2 core or core candidate genes and altogether 16 curated genes according to the clinical signs

ID
HP1773
Number of loci
Locus typeCount
Gen 14
Accredited laboratory test
Examined sequence length
3,5 kb (Core-/Core-canditate-Genes)
28,0 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
LMNA1995NM_170707.4AD
ZMPSTE241428NM_005857.5AR
AGPAT2837NM_006412.4AR
B4GALT7984NM_007255.3AR
BANF1270NM_001143985.1AR
BSCL21197NM_032667.6AR
ERCC64482NM_000124.4AR
ERCC81191NM_000082.4AR
GORAB1185NM_152281.3AR
PDGFRB3321NM_002609.4AD
POLR3A4173NM_007055.4AR
PYCR1960NM_006907.4AR
SLC25A241650NM_013386.5AD
WRN4299NM_000553.6AR

Informations about the disease

Synonyms
  • Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Kosaki overgrowth syndrome (PDGFRB)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Silver spastic paraplegia syndrome (BSCL2)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Cutis laxa, AR, type IIB + IIIB (PYCR1)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Fontaine progeroid syndrome (SLC25A24)
  • Geroderma osteodysplasticum (GORAB)
  • Hemophagocytic lymphohistiocytosis, familial, 1 (FHL1)
  • Hutchinson-Gilford progeria (LMNA)
  • Leukodystrophy, hypomyelin., 7, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
  • Lipodystrophy, congenital generalized, type 1 (AGPAT2)
  • Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Lipodystrophy, familial partial, type 2 (LMNA)
  • Mandibuloacral dysplasia (LMNA)
  • Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Nestor-Guillermo progeria syndrome (BANF1)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Restrictive dermopathy, lethal (ZMPSTE24)
  • Werner syndrome (WRN)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined