IllnessOvergrowth syndromes, differential diagnosis
Summary
Comprehensive differential diagnostic panel for overgrowth syndromes comprising 1 guideline-curated, 6 additional and altogether 23 curated genes according to the clinical signs
37,5 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
[Sanger]
Gene panel
Informations about the disease
Over-growth syndromes form a group of rare congenital diseases with the main characteristic of a circumscribed (segmental) or complete pathological growth that can be detected during pregnancy, shortly after birth or in the first years of life. High growth is defined as a body length/height above the 97th percentile. High growth can either be a norm variant ("constitutional high growth" or "familial high growth") or have a pathological cause. Pathological macrosomia is usually syndromal. There is a high degree of phenotypic overlap between the syndromes in question.
Reference: https://www.nature.com/articles/s41574-019-0180-z
- Alias: Tall stature, overgrowth syndrome
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Acute myeloid leukemia, somatic (DNMT3A)
- Allelic: Autism, susceptibility to, 18 (CHD8)
- Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
- Allelic: Breast cancer, somatic (PIK3CA)
- Allelic: CLAPO syndrome, somatic (PIK3CA)
- Allelic: CLOVE syndrome, somatic (PIK3CA)
- Allelic: Colorectal cancer, somatic (PIK3CA)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Diabetes mellitus, type II (AKT2)
- Allelic: Ectopia lentis, familial (FBN1)
- Allelic: Focal cortical dysplasia, type II, somatic (MTOR)
- Allelic: Gastric cancer, somatic (PIK3CA)
- Allelic: Geleophysic dysplasia 2 (FBN1)
- Allelic: Hepatocellular carcinoma, somatic (PIK3CA)
- Allelic: Heyn-Sproul-Jackson (DNMT3A)
- Allelic: Joubert syndrome 10 (OFD1)
- Allelic: Keratosis, seborrheic, somatic (PIK3CA)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Macrodactyly, somatic (PIK3CA)
- Allelic: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
- Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
- Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
- Allelic: Nevus, epidermal, somatic (PIK3CA)
- Allelic: Nonsmall cell lung cancer, somatic (PIK3CA)
- Allelic: Orofaciodigital syndrome I (OFD1)
- Allelic: Ovarian cancer, somatic (PIK3CA)
- Allelic: Premature aging syndrome, Penttinen type (PGFRB)
- Allelic: Premature ovarian failure 1 (FMR1_CGG)
- Allelic: Retinitis pigmentosa 23 (OFD1)
- Allelic: Schizophrenia 15 (SHANK3)
- Allelic: Stiff skin syndrome (FBN1)
- Allelic: Weill-Marchesani syndrome 2, dominant (FBN1)
- Allelic: Wilms tumor, somatic (GPC3)
- Beckwith-Wiedemann syndrome, IMAGE syndrome (CDKN1C)
- Cohen-Gibson syndrome (EED)
- Cowden syndrome 5 (PIK3CA)
- Fragile X syndrome (FMR1_CGG)
- Fragile X tremor/ataxia syndrome (FMR1_CGG)
- Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
- Imagawa-Matsumoto syndrome (SUZ12)
- Intellectual developmental disorder, AD 23 (SETD5)
- Intellectual developmental disorder, XL 93 (BRWD3)
- Kosaki overgrowth syndrome (PDGFRB)
- Luscan-Lumish syndrome (SETD2)
- MASS syndrome (FBN1)
- Macrocephaly, acquired, with impaired intellectual development (NFIB)
- Macrocephaly/autism syndrome (PTEN)
- Malan syndrome (NFIX)
- Marfan lipodystrophy syndrome (FBN1)
- Marfan syndrome (FBN1)
- Marshall-Smith syndrome (NFIX)
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
- Perlman syndrome (DIS3L2)
- Phelan-McDermid syndrome (SHANK3)
- Rahman syndrome (H1-4 syn. HIST1H1E)
- Shashi-Pena syndrome (ASXL2)
- Simpson-Golabi-Behmel syndrome (GPC3)
- Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
- Smith-Kingsmore syndrome (MTOR)
- Sotos syndrome 1 (NSD1)
- Sotos syndrome 2 (NFIX)
- Tatton-Brown-Rahman syndrome (DNMT3A)
- Tenorio syndrome (RNF125)
- Thauvin-Robinet-Faivre syndrome (FIBP)
- Weaver syndrome (EZH2)
- AD
- AR
- XL
- XLR
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
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