MPPH2
MCID: MGL028
MIFTS: 24

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 (MPPH2)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 72 29 6 70
Mpph2 57 72
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 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) (Updated 05-Apr-2021)

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 brain, and related phenotypes are seizure and macrocephaly

UniProtKB/Swiss-Prot : 72 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...

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 macrocephaly 31 HP:0000256
3 intellectual disability 31 HP:0001249
4 hydrocephalus 31 HP:0000238
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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

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

Skeletal Feet:
polydactyly, postaxial

Neurologic Central Nervous System:
intellectual disability
hydrocephalus
ventriculomegaly
polymicrogyria
hemimegalencephaly
more
Skeletal Hands:
polydactyly, postaxial

Cardiovascular Vascular:
vascular malformations (in some patients)

Clinical features from OMIM®:

615937 (Updated 05-Apr-2021)

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:

40
Brain

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

Articles related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2:

# Title Authors PMID Year
1
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 57 6
23745724 2014
2
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 57 6
22729223 2012
3
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 57 6
22729224 2012
4
Somatic activation of AKT3 causes hemispheric developmental brain malformations. 57 6
22500628 2012
5
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 57 6
22228622 2012
6
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 6
24705253 2014
7
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. 57
19353582 2009
8
Mixed-valence dimolybdenum complexes containing hard oxo and soft carbonyl ligands: synthesis, structure, and electrochemistry of Mo2(O)(CO)2(μ-κ2-S(CH2)nS)2(κ2-diphosphine). 61
29999052 2018
9
sp carbon chains surrounded by sp(3) carbon double helices: directed syntheses of wirelike Pt(CC)(n)Pt moieties that are spanned by two P(CH(2))(m)P linkages via alkene metathesis. 61
17567011 2007

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

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AKT3 NM_005465.7(AKT3):c.686A>G (p.Asn229Ser) SNV Pathogenic 39815 rs397514605 GRCh37: 1:243776983-243776983
GRCh38: 1:243613681-243613681
2 AKT3 NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) SNV Pathogenic 39816 rs397514606 GRCh37: 1:243859016-243859016
GRCh38: 1:243695714-243695714
3 AKT3 NM_005465.7(AKT3):c.963T>G (p.Asn321Lys) SNV Pathogenic 995385 GRCh37: 1:243716231-243716231
GRCh38: 1:243552929-243552929
4 overlap with 12 genes Deletion Pathogenic 243062 GRCh37: 1:242263612-244559673
GRCh38: 1:242100310-244396371
5 AKT3 NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) SNV Pathogenic 39814 rs587776935 GRCh37: 1:243668598-243668598
GRCh38: 1:243505296-243505296
6 AKT3 NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) SNV Likely pathogenic 807366 rs1574509510 GRCh37: 1:243675650-243675650
GRCh38: 1:243512348-243512348
7 AKT3 NM_005465.7(AKT3):c.548T>A (p.Val183Asp) SNV Likely pathogenic 273671 rs886041100 GRCh37: 1:243800926-243800926
GRCh38: 1:243637624-243637624
8 AKT3 NM_005465.7(AKT3):c.224G>A (p.Arg75Lys) SNV Uncertain significance 475213 rs1553428545 GRCh37: 1:243828134-243828134
GRCh38: 1:243664832-243664832
9 AKT3 NM_005465.7(AKT3):c.1276G>C (p.Val426Leu) SNV Uncertain significance 475212 rs868556430 GRCh37: 1:243675704-243675704
GRCh38: 1:243512402-243512402
10 AKT3 NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys) SNV Uncertain significance 931499 GRCh37: 1:243708822-243708822
GRCh38: 1:243545520-243545520
11 AKT3 NM_005465.7(AKT3):c.238A>T (p.Thr80Ser) SNV Uncertain significance 955844 GRCh37: 1:243828120-243828120
GRCh38: 1:243664818-243664818
12 AKT3 NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu) SNV Uncertain significance 958474 GRCh37: 1:243668594-243668594
GRCh38: 1:243505292-243505292
13 AKT3 NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys) SNV Uncertain significance 846856 GRCh37: 1:243736295-243736295
GRCh38: 1:243572993-243572993
14 AKT3 NM_005465.7(AKT3):c.820-10T>G SNV Uncertain significance 489265 rs370193515 GRCh37: 1:243727160-243727160
GRCh38: 1:243563858-243563858
15 AKT3 NM_005465.7(AKT3):c.682G>A (p.Val228Ile) SNV Uncertain significance 964313 GRCh37: 1:243776987-243776987
GRCh38: 1:243613685-243613685
16 AKT3 NM_005465.7(AKT3):c.726G>A (p.Val242=) SNV Likely benign 541984 rs781331863 GRCh37: 1:243736321-243736321
GRCh38: 1:243573019-243573019
17 AKT3 NM_005465.7(AKT3):c.840C>T (p.Asp280=) SNV Likely benign 475214 rs201347487 GRCh37: 1:243727130-243727130
GRCh38: 1:243563828-243563828

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

72
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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