IllnessMPPH-Syndrom, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for MPPH syndrome comprising 3 core genes and altogether 9 curated genes according to the clinical signs

MP7113

Number of genes

7 Accredited laboratory test

Examined sequence length

4,5 kb (Core-/Core-canditate-Genes)
17,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
AKT3	1440	611223	NM_005465.7	AD
CCND2	870	123833	NM_001759.4	AD
PIK3R2	2187	603157	NM_005027.4	AD
MTOR	7650	601231	NM_004958.4	AD
PIK3CA	3207	171834	NM_006218.4	AD
PTEN	1212	601728	NM_000314.8	AD
STRADA	1185	608626	NM_001003786.3	AR

Synonyms

Alias: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
Alias: Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome
Allelic: Focal cortical dysplasia, type II, somatic (MTOR)
Allelic: Holoprosencephaly 7 (PTCH1)
Allelic: Joubert syndrome 32 (SUFU)
Allelic: Medulloblastoma (SUFU)
Allelic: Meningioma, familial, susceptibility to (SUFU)
Basal cell nevus syndrome 1 (PTCH1)
Basal cell nevus syndrome 2 (SUFU)
CLAPO syndrome, somatic (PIK3CA)
CLOVE syndrome, somatic (PIK3CA)
Cowden syndrome 1 (PTEN)
Lhermitte-Duclos syndrome (PTEN)
Macrocephaly/autism syndrome (PTEN)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
Smith-Kingsmore syndrome (MTOR)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined