©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPrader-Willi syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Prader-Willi syndrome, differential diagnosis, comprising altogether 24 curated genes

ID
PP0770
Number of genes
23 Accredited laboratory test
Examined sequence length
13,8 kb (Core-/Core-canditate-Genes)
68,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

Often imprinting dysfunctional -> paternal proximal chromosome 15q inactive/deleted; UPD etc.

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
BBS11782AR, digenisch
BBS102172AR
MAGEL23750AD
PHF61098XLR
SIM12301AR
SNRPN723AD
WAC1944AD, AR
ALMS112504AR
ARL6561AR
BBS122133AR
BBS22166AR
BBS41560AR
BBS51026AR
BBS72148AR
BBS92664AR
CEP2907440AR
DMPK1920AD
FMR11899XL
MKKS1713AR
SDCCAG82142n.k.
SMN1885AR
TTC81518AR
VPS13B12069AR

Informations about the disease

Clinical Comment

Hypothalamic-pituitary dysfunction with severe hypotonia, feeding deficits during neonatal period, then excessive weight gain with hyperphagia, risk of severe obesity in child-/adulthood, learning difficulties, deficits of social skills, behavioral or severe psychiatric problems

Diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, small hands + feet

~70% PWS patients have deletion 15q11.2-q13

1% PWS patients chromosomal rearrangement with deletion in 15q11.2-q13

<1% PWS patients chromosomal rearrangements breaking in 15q11.2-q13

 

Synonyms
  • Alias: Prader-Labhart-Willi syndrome
  • Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Allelic: Fragile X tremor/ataxia syndrome (FMR1)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Allelic: Osseous heteroplasia, progressive (GNAS)
  • Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
  • Allelic: Premature ovarian failure 1 (FMR1)
  • Allelic: Retinitis pigmentosa 51 (TTC8)
  • Allelic: Retinitis pigmentosa 55 (ARL6)
  • Allelic: Retinitis pigmentosa 74 (BBS2)
  • Alstrom syndrome (ALMS1)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Bardet-Biedl syndrome 1, modifier of (ARL6)
  • Bardet-Biedl syndrome 10 (BBS10)
  • Bardet-Biedl syndrome 12 (BBS12)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • Bardet-Biedl syndrome 2 (BBS2)
  • Bardet-Biedl syndrome 3 (ARL6)
  • Bardet-Biedl syndrome 4 (BBS4)
  • Bardet-Biedl syndrome 5 (BBS5)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Bardet-Biedl syndrome 7 (BBS7)
  • Bardet-Biedl syndrome 8 (TTC8)
  • Bardet-Biedl syndrome 9 (BBS9)
  • Borjeson-Forssman-Lehmann syndrome (PHF6)
  • Cohen syndrome (VPS13B)
  • Desanto-Shinawi syndrome (WAC)
  • Fragile X syndrome (FMR1)
  • Joubert syndrome 5 (CEP290)
  • McKusick-Kaufman syndrome (MKKS)
  • Meckel syndrome 4 (CEP290)
  • Myotonic dystrophy 1 (DMPK)
  • Prader-Willi syndrome (NDN, SNRPN)
  • Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Pseudopseudohypoparathyroidism (GNAS)
  • Schaaf-Yang syndrome (MAGEL2)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Severe early-onset obesity-insulin resistance syndrome - SH2B1 deficiency [MONDO:0017994] (SH2B1)
  • Severe obesity with neurobehavioral features (SIM1) [panelapp]
  • Spinal muscular atrophy-1 to -4 (SMN1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • digenisch
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.8

Bioinformatics and clinical interpretation

No text defined