MCID: MGL028
MIFTS: 19

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

MalaCards integrated aliases for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2:

Name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 53 71 28 69
Mpph2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
most cases result from de novo mutations
four unrelated patients have been reported (last curated august 2014)


HPO:

31
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

OMIM : 53 MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; 602501) (summary by Gripp et al., 2009). For a discussion of genetic heterogeneity of MPPH, see 603387. (615937)

MalaCards based summary : Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2, is also known as mpph2, and has symptoms including seizures, macrocephaly and hydrocephalus. An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 is AKT3 (AKT Serine/Threonine Kinase 3). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2: A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly- capillary malformation syndrome.

Related Diseases for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Diseases in the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 family:

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Symptoms & Phenotypes for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly

Skin Nails Hair Skin:
cutis marmorata
skin hyperextensibility
connective tissue dysplasia

Skeletal Feet:
polydactyly, postaxial

Neurologic Central Nervous System:
hydrocephalus
intellectual disability
ventriculomegaly
polymicrogyria
seizures (in some patients)
more
Skeletal Hands:
polydactyly, postaxial

Cardiovascular Vascular:
vascular malformations (in some patients)


Clinical features from OMIM:

615937

Human phenotypes related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 macrocephaly 31 HP:0000256
3 hydrocephalus 31 HP:0000238
4 intellectual disability 31 HP:0001249
5 ventriculomegaly 31 HP:0002119
6 hyperextensible skin 31 HP:0000974
7 polymicrogyria 31 HP:0002126
8 postaxial hand polydactyly 31 HP:0001162
9 cutis marmorata 31 HP:0000965
10 hypoplasia of the corpus callosum 31 HP:0002079
11 hemimegalencephaly 31 HP:0007206

Drugs & Therapeutics for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Search Clinical Trials , NIH Clinical Center for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2

Genetic Tests for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Genetic tests related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2:

# Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 28 AKT3

Anatomical Context for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

MalaCards organs/tissues related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2:

38
Skin

Publications for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

UniProtKB/Swiss-Prot genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2:

71
# Symbol AA change Variation ID SNP ID
1 AKT3 p.Glu17Lys VAR_065830 rs397514606
2 AKT3 p.Asn229Ser VAR_069260 rs397514605
3 AKT3 p.Arg465Trp VAR_069261 rs587776935

ClinVar genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AKT3 NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic/Likely pathogenic rs587776935 GRCh37 Chromosome 1, 243668598: 243668598
2 AKT3 NM_005465.4(AKT3): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs397514605 GRCh37 Chromosome 1, 243776983: 243776983
3 AKT3 NM_181690.2(AKT3): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic rs397514606 GRCh37 Chromosome 1, 243859016: 243859016
4 AKT3 NC_000001.10: g.242263612_244559673del2296062 deletion Pathogenic GRCh37 Chromosome 1, 242263612: 244559673
5 AKT3 NM_005465.4(AKT3): c.548T> A (p.Val183Asp) single nucleotide variant Pathogenic rs886041100 GRCh37 Chromosome 1, 243800926: 243800926

Expression for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Search GEO for disease gene expression data for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2.

Pathways for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

GO Terms for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Sources for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....