MCID: MGL030
MIFTS: 29

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

Categories: Genetic diseases

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

MalaCards integrated aliases for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

Name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 54 24 71 29 69
Megalencephaly Mega Corpus Callosum and Complete Lack of Motor Development 71
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 69
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 71
Megalencephaly-Polymicrogyria-Mega Corpus Callosum Syndrome 71
Meg-Pmg-Megacc Syndrome 71
Mpph1 71
Mpph 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 71 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1: 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.

MalaCards based summary : Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1, also known as megalencephaly mega corpus callosum and complete lack of motor development, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, and has symptoms including seizures, ptosis and hydrocephalus. An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 is PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2). Affiliated tissues include kidney, skeletal muscle and eye.

OMIM : 54
This disorder comprises 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). (603387)

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

Graphical network of the top 20 diseases related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:



Diseases related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
developmental delay
seizures
hydrocephalus
mental retardation, profound
polymicrogyria
more
Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
mitral regurgitation, mild
vascular ring

Head And Neck- Face:
frontal bossing

Head And Neck- Eyes:
blindness
large eyes
wide palpebral fissures
pale optic nerves
eyelid ptosis

Skeletal- Hands:
postaxial polydactyly

Head And Neck- Nose:
low bridge

Skeletal- Limbs:
flexion contractures at both knees

Neoplasia:
increased risk of medulloblastoma (rare)

Skeletal- Spine:
kyphosis
s-scoliosis of thoracic spine

Head And Neck- Mouth:
tent-shaped mouth
prominent philtral groove
submucous cleft palate (rare)

Head And Neck- Head:
macrocephaly

Muscle Soft Tissue:
muscle atrophy

Growth- Height:
small birth length

Genitourinary- Kidneys:
duplicated kidneys (rare)

Neurologic- Behavioral Psychiatric Manifestations:
asperger-like features


Clinical features from OMIM:

603387

Human phenotypes related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ptosis 32 HP:0000508
3 hydrocephalus 32 HP:0000238
4 kyphosis 32 HP:0002808
5 atrial septal defect 32 HP:0001631
6 pachygyria 32 HP:0001302
7 polymicrogyria 32 HP:0002126
8 frontal bossing 32 HP:0002007
9 global developmental delay 32 HP:0001263
10 macrocephaly 32 HP:0000256
11 hypoplasia of the corpus callosum 32 HP:0002079
12 blindness 32 HP:0000618
13 ventricular septal defect 32 HP:0001629
14 knee flexion contracture 32 HP:0006380
15 postaxial polydactyly 32 HP:0100259
16 intellectual disability, profound 32 HP:0002187
17 thoracic scoliosis 32 HP:0002943
18 megalencephaly 32 HP:0001355
19 mitral regurgitation 32 HP:0001653
20 large eyes 32 HP:0001090
21 thick corpus callosum 32 HP:0007074
22 vascular ring 32 HP:0010775
23 long palpebral fissure 32 HP:0000637
24 skeletal muscle atrophy 32 HP:0003202
25 muscular hypotonia of the trunk 32 HP:0008936

UMLS symptoms related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:


seizures

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

Search Clinical Trials , NIH Clinical Center for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

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

Genetic tests related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

id Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 29 24 PIK3R2

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

MalaCards organs/tissues related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

39
Kidney, Skeletal Muscle, Eye

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 1:

71
id Symbol AA change Variation ID SNP ID
1 PIK3R2 p.Gly373Arg VAR_069262 rs587776934
2 PIK3R2 p.Leu401Pro VAR_075683 rs587777624
3 PIK3R2 p.Asp557His VAR_075684 rs372272045

ClinVar genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R2 NM_005027.3(PIK3R2): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587776934 GRCh38 Chromosome 19, 18162974: 18162974
2 PIK3R2 NM_005027.3(PIK3R2): c.1202T> C (p.Leu401Pro) single nucleotide variant Pathogenic rs587777624 GRCh38 Chromosome 19, 18163059: 18163059

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

Search GEO for disease gene expression data for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1.

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
28 GO
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30 HGMD
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33 ICD10
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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