MCID: MGL028
MIFTS: 19

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal 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 57 75 29 6 73
Mpph2 57 75
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 57 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. An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 is AKT3 (AKT Serine/Threonine Kinase 3). Affiliated tissues include skin, and related phenotypes are hydrocephalus and macrocephaly

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 macrocephaly 32 HP:0000256
3 cutis marmorata 32 HP:0000965
4 hyperextensible skin 32 HP:0000974
5 postaxial hand polydactyly 32 HP:0001162
6 intellectual disability 32 HP:0001249
7 seizures 32 occasional (7.5%) HP:0001250
8 hypoplasia of the corpus callosum 32 HP:0002079
9 ventriculomegaly 32 HP:0002119
10 polymicrogyria 32 HP:0002126
11 hemimegalencephaly 32 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 29 AKT3

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

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

41
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:

75
# 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
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKT3 NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp) single nucleotide variant Likely pathogenic rs587776935 GRCh37 Chromosome 1, 243668598: 243668598
2 AKT3 NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp) single nucleotide variant Likely pathogenic rs587776935 GRCh38 Chromosome 1, 243505296: 243505296
3 AKT3 NM_005465.4(AKT3): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs397514605 GRCh37 Chromosome 1, 243776983: 243776983
4 AKT3 NM_005465.4(AKT3): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs397514605 GRCh38 Chromosome 1, 243613681: 243613681
5 AKT3 NM_181690.2(AKT3): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic rs397514606 GRCh37 Chromosome 1, 243859016: 243859016
6 AKT3 NM_181690.2(AKT3): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic rs397514606 GRCh38 Chromosome 1, 243695714: 243695714
7 AKT3 NC_000001.10: g.242263612_244559673del2296062 deletion Pathogenic GRCh37 Chromosome 1, 242263612: 244559673
8 AKT3 NM_005465.4(AKT3): c.548T> A (p.Val183Asp) single nucleotide variant Likely pathogenic rs886041100 GRCh37 Chromosome 1, 243800926: 243800926
9 AKT3 NM_005465.4(AKT3): c.548T> A (p.Val183Asp) single nucleotide variant Likely pathogenic rs886041100 GRCh38 Chromosome 1, 243637624: 243637624
10 AKT3 NM_005465.4(AKT3): c.840C> T (p.Asp280=) single nucleotide variant Likely benign rs201347487 GRCh37 Chromosome 1, 243727130: 243727130
11 AKT3 NM_005465.4(AKT3): c.840C> T (p.Asp280=) single nucleotide variant Likely benign rs201347487 GRCh38 Chromosome 1, 243563828: 243563828
12 AKT3 NM_005465.4(AKT3): c.1276G> C (p.Val426Leu) single nucleotide variant Uncertain significance rs868556430 GRCh38 Chromosome 1, 243512402: 243512402
13 AKT3 NM_005465.4(AKT3): c.1276G> C (p.Val426Leu) single nucleotide variant Uncertain significance rs868556430 GRCh37 Chromosome 1, 243675704: 243675704
14 AKT3 NM_005465.4(AKT3): c.224G> A (p.Arg75Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 243664832: 243664832
15 AKT3 NM_005465.4(AKT3): c.224G> A (p.Arg75Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 243828134: 243828134
16 AKT3 NM_005465.4(AKT3): c.726G> A (p.Val242=) single nucleotide variant Likely benign rs781331863 GRCh38 Chromosome 1, 243573019: 243573019
17 AKT3 NM_005465.4(AKT3): c.726G> A (p.Val242=) single nucleotide variant Likely benign rs781331863 GRCh37 Chromosome 1, 243736321: 243736321

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....