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IllnessSimpson-Golabi-Behmel syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Simpson-Golabi-Behmel syndrome comprising 5 or altogether 10 curated genes according to the clinical signs
ID
SP5020
Number of genes
10
Accredited laboratory test
Examined sequence length
10,2 kb (Core-/Core-canditate-Genes)
29,0 kb (Extended panel: incl. additional genes)
29,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| EZH2 | 2256 | NM_004456.5 | AD | |
| GPC3 | 1743 | NM_004484.4 | XLR | |
| GPC4 | 1671 | NM_001448.3 | XLR | |
| OFD1 | 3039 | NM_003611.3 | XL | |
| PIGA | 1455 | NM_002641.4 | XLR | |
| DIS3L2 | 2658 | NM_152383.5 | XLR | |
| NFIX | 1533 | NM_001271043.2 | AD | |
| NSD1 | 8091 | NM_022455.5 | AD | |
| PLOD1 | 2184 | NM_000302.4 | AR | |
| PTCH1 | 4344 | NM_000264.5 | AD |
Informations about the disease
Clinical Comment
X-linked multiple congenital anomalies with pre-/postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly, increased tumor risk
For Simpson-Golabi-Behmel syndrome, type 2 see Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Synonyms
- Alias: Bulldog syndrome; Dysplasia gigantism syndrome, XL
- Alias: Golabi-Rosen syndrome
- Alias: Simpson dysmorphia syndrome
- Alias: Simpson-Golabi-Behmel syndrome, type 1 + 2
- Alias: XL dysplasia gigantism syndrome
- Allelic: Basal cell carcinoma, somatic (PTCH1)
- Allelic: Basal cell nevus syndrome (PTCH1)
- Allelic: Holoprosencephaly 7 (PTCH1)
- Allelic: Joubert syndrome 10 (OFD1)
- Allelic: Orofaciodigital syndrome I (OFD1)
- Allelic: Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)
- Allelic: Retinitis pigmentosa 23 (OFD1)
- Allelic: Wilms tumor, somatic (GPC3)
- Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
- Keipert [nasodigitoacoustic] syndrome (GPC4)
- Marshall-Smith syndrome (NFIX)
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
- Perlman syndrome (DIS3L2)
- Simpson-Golabi-Behmel syndrome, type 1 (GPC3, GCP4)
- Simpson-Golabi-Behmel syndrome, type 2 (OFD1, PIGA)
- Sotos syndrome 1 (NSD1)
- Sotos syndrome 2 (NFIX)
- Weaver syndrome (EZH2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.3
Bioinformatics and clinical interpretation
No text defined