MCID: MGL028
MIFTS: 20

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2

Categories: Genetic 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 54 24 71 29 69
Mpph2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



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

OMIM : 54
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 ventriculomegaly, seizures 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:

54

Neurologic- Central Nervous System:
seizures (in some patients)
ventriculomegaly
thin corpus callosum
hydrocephalus
polymicrogyria
more
Skin Nails & Hair- Skin:
cutis marmorata
skin hyperextensibility
connective tissue dysplasia

Skeletal- Feet:
polydactyly, postaxial

Head And Neck- Head:
macrocephaly

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)
id Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 HP:0002119
2 seizures 32 occasional (7.5%) HP:0001250
3 hydrocephalus 32 HP:0000238
4 polymicrogyria 32 HP:0002126
5 macrocephaly 32 HP:0000256
6 cutis marmorata 32 HP:0000965
7 intellectual disability 32 HP:0001249
8 hypoplasia of the corpus callosum 32 HP:0002079
9 hemimegalencephaly 32 HP:0007206
10 hyperextensible skin 32 HP:0000974
11 postaxial hand polydactyly 32 HP:0001162

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:

id Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 29 24 AKT3

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

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

39
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
id 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
id 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...

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10 dbSNP
11 DGIdb
16 ExPASy
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30 HGMD
31 HMDB
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59 PubMed
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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