MPPH3
MCID: MGL029
MIFTS: 23

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 (MPPH3)

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 3:

Name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 57 72 29 6 70
Mpph3 57 72
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
most mutations occur de novo


HPO:

31
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 615938
OMIM Phenotypic Series 57 PS603387
UMLS 70 C4014742

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

UniProtKB/Swiss-Prot : 72 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3: A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome.

MalaCards based summary : Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3, is also known as mpph3. An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 is CCND2 (Cyclin D2). Affiliated tissues include brain, and related phenotypes are macrocephaly and megalencephaly

OMIM® : 57 This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014). For a discussion of genetic heterogeneity of MPPH, see MPPH1 (603387). (615938) (Updated 05-Apr-2021)

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 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 megalencephaly 31 HP:0001355
3 hydrocephalus 31 HP:0000238
4 global developmental delay 31 HP:0001263
5 prominent forehead 31 HP:0011220
6 absent speech 31 HP:0001344
7 ventriculomegaly 31 HP:0002119
8 polymicrogyria 31 HP:0002126
9 postaxial hand polydactyly 31 HP:0001162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
enlarged head circumference (up to 7.5+)

Head And Neck Face:
prominent forehead

Skeletal Feet:
polydactyly, postaxial

Neurologic Central Nervous System:
megalencephaly
hydrocephalus
ventriculomegaly
polymicrogyria
poor or absent speech
more
Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM®:

615938 (Updated 05-Apr-2021)

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

Search Clinical Trials , NIH Clinical Center for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

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

Genetic tests related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

# Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 29 CCND2

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

MalaCards organs/tissues related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

40
Brain

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

Articles related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

# Title Authors PMID Year
1
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 57 6
24705253 2014
2
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
22228622 2012
3
[A case with MPPH3 syndrome caused by a novel variation in CCND2 gene]. 61
33657702 2021
4
Bronze, silver and gold: functionalized group 11 organotin sulfide clusters. 61
25123147 2014

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

ClinVar genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCND2 NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) SNV Pathogenic 143981 rs587777618 GRCh37: 12:4409143-4409143
GRCh38: 12:4299977-4299977
2 CCND2 NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) SNV Pathogenic 143982 rs587777619 GRCh37: 12:4409113-4409113
GRCh38: 12:4299947-4299947
3 CCND2 NM_001759.4(CCND2):c.841C>T (p.Pro281Ser) SNV Pathogenic 143984 rs587777621 GRCh37: 12:4409146-4409146
GRCh38: 12:4299980-4299980
4 CCND2 NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) SNV Pathogenic 143985 rs587777622 GRCh37: 12:4409147-4409147
GRCh38: 12:4299981-4299981
5 CCND2 NM_001759.4(CCND2):c.842C>T (p.Pro281Leu) SNV Pathogenic 143986 rs587777622 GRCh37: 12:4409147-4409147
GRCh38: 12:4299981-4299981
6 CCND2 NM_001759.4(CCND2):c.851T>G (p.Val284Gly) SNV Pathogenic 273674 rs777786993 GRCh37: 12:4409156-4409156
GRCh38: 12:4299990-4299990
7 CCND2 NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) SNV Pathogenic 143983 rs587777620 GRCh37: 12:4409144-4409144
GRCh38: 12:4299978-4299978
8 CCND2 NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) SNV Conflicting interpretations of pathogenicity 666559 rs587777620 GRCh37: 12:4409144-4409144
GRCh38: 12:4299978-4299978

UniProtKB/Swiss-Prot genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 CCND2 p.Thr280Ala VAR_072370 rs587777618
2 CCND2 p.Thr280Asn VAR_072371 rs587777620
3 CCND2 p.Pro281Leu VAR_072372 rs587777622
4 CCND2 p.Pro281Arg VAR_072373 rs587777622
5 CCND2 p.Val284Gly VAR_072374 rs777786993

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

Search GEO for disease gene expression data for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3.

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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