MPPH1
MCID: MGL030
MIFTS: 46

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 (MPPH1)

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 1:

Name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 57 72 29 6 70
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 25 20 43 72 36 13 39
Mpph Syndrome 25 20 43 58
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome 20 58 29
Mpph 57 43 72
Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome 25 43
Meg-Pmg-Megacc Syndrome 57 72
Mpph1 57 72
Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus 20
Megalencephaly, Mega Corpus Callosum, and Complete Lack of Motor Development 57
Megalencephaly Mega Corpus Callosum and Complete Lack of Motor Development 72
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 1 39
Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome; Mpph 57
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 70
Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome 57
Megalencephaly, Polymicrogyria, and Hydrocephalus Syndrome 20
Megalencephaly-Polymicrogyria-Mega Corpus Callosum Syndrome 72
Meg-Pmg-Poly-Hyd 43

Characteristics:

Orphanet epidemiological data:

58
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Although penetrance for mpph syndrome is expected to be high, to date it cannot be definitively determined to be 100% due to the identification of low-level mosaic somatic pik3r2 pathogenic variants in individuals who have only one of the core features (i.e., bilateral perisylvian polymicrogyria) [mirzaa et al 2015].

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

MedlinePlus Genetics : 43 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain. Affected individuals are born with an unusually large brain and head size (megalencephaly). The head and brain continue to grow rapidly during the first 2 years of life. MPPH syndrome is also associated with a brain abnormality called bilateral perisylvian polymicrogyria (BPP). The surface of the brain normally has many ridges or folds, called gyri. In people with BPP, an area of the brain called the perisylvian region develops too many gyri, and the folds are irregular and unusually small. Other brain abnormalities, including a buildup of fluid in the brain (hydrocephalus), have also been reported in people with MPPH syndrome.The problems with brain development cause a variety of neurological signs and symptoms. People with MPPH syndrome have delayed development and intellectual disability that ranges from mild to severe. About half of affected individuals develop recurrent seizures (epilepsy) beginning early in childhood. People with MPPH syndrome also have difficulty coordinating movements of the mouth and tongue (known as oromotor dysfunction), which leads to drooling, difficulty swallowing (dysphagia), and a delay in the production of speech (expressive language).About half of people with MPPH syndrome have an extra finger or toe on one or more of their hands or feet (polydactyly). The polydactyly is described as postaxial because it occurs on the same side of the hand or foot as the pinky finger or little toe.The brain abnormalities characteristic of MPPH syndrome are also found in a closely related condition called megalencephaly-capillary malformation syndrome (MCAP). However, MCAP includes abnormalities of small blood vessels in the skin (capillary malformations) and several other features that are not usually part of MPPH syndrome.

MalaCards based summary : Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1, also known as megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, is related to megalencephaly-capillary malformation-polymicrogyria syndrome and megalencephaly, and has symptoms including seizures An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 is PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2), and among its related pathways/superpathways are mTOR signaling pathway and Akt Signaling. Affiliated tissues include brain, tongue and kidney, and related phenotypes are macrocephaly and megalencephaly

GARD : 20 MPPH syndrome is a disorder characterized by the presence of multiple birth defects and developmental delay. Classic signs and symptoms include polymicrogyria, megalencephaly, seizures, polydactyly, and hydrocephalus. Other features might include characteristic facial features, low muscle tone ( hypotonia ), and impaired vision. Mutations in at least three different genes have been identified that cause MPPH including PIK3R2, AKT3, and CCND2. Most cases of MPPH syndrome are new ( de novo ) in families with no prior history. The diagnosis of MPPH syndrome is based on physical examination, imaging studies, and genetic testing. Treatment is based on the signs and symptoms present in each person.

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:H02153] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective tissue dysplasia in the former, and progressive megalencephaly, polymicrogyria, and polydactyly in the latter. Polydactyly in MPPH seems to be a variable feature presenting with varied severity in both upper and lower limbs. MCAP and MPPH have been shown to result from gain-of-function mutations in the mTOR-pathway.

UniProtKB/Swiss-Prot : 72 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.

GeneReviews: NBK396098

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

Diseases related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 30.9 PIK3R2 AKT3
2 megalencephaly 29.7 PIK3R2 CCND2 AKT3
3 polymicrogyria 29.6 PIK3R2 CCND2 AKT3
4 polydactyly 29.6 PIK3R2 CCND2 AKT3
5 hydrocephalus 29.6 PIK3R2 CCND2 AKT3
6 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.0
7 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.0
8 macrocephaly/megalencephaly syndrome, autosomal recessive 10.4
9 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
10 hemimegalencephaly 10.3
11 pik3ca-related segmental overgrowth 10.2
12 overgrowth syndrome 10.1
13 chromosome 2q35 duplication syndrome 10.1
14 hypotonia 10.1
15 cleft palate, isolated 9.8
16 coarctation of aorta 9.8
17 medulloblastoma 9.8
18 hydrocephalus, congenital, 1 9.8
19 thymoma, familial 9.8
20 yemenite deaf-blind hypopigmentation syndrome 9.8
21 microcephaly-capillary malformation syndrome 9.8
22 alacrima, achalasia, and mental retardation syndrome 9.8
23 thymoma 9.8
24 dacryocystocele 9.8
25 chiari malformation 9.8
26 encephalocele 9.8
27 seizure disorder 9.8
28 occipital encephalocele 9.8
29 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.8
30 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.6 PIK3R2 AKT3
31 proteus syndrome 9.6 PIK3R2 AKT3
32 nevus, epidermal 9.6 PIK3R2 AKT3
33 cowden syndrome 1 9.5 PIK3R2 AKT3
34 cowden syndrome 9.4 PIK3R2 AKT3

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...

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

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 megalencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001355
3 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
4 polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002126
5 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
6 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 mitral regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001653
9 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
10 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
11 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
12 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
13 abnormal localization of kidney 58 31 frequent (33%) Frequent (79-30%) HP:0100542
14 seizure 31 frequent (33%) HP:0001250
15 seizures 58 Frequent (79-30%)
16 frontal bossing 31 HP:0002007
17 ptosis 31 HP:0000508
18 kyphosis 31 HP:0002808
19 global developmental delay 31 HP:0001263
20 blindness 31 HP:0000618
21 skeletal muscle atrophy 31 HP:0003202
22 abnormal nasal morphology 58 Frequent (79-30%)
23 atrial septal defect 31 HP:0001631
24 abnormal cardiac septum morphology 58 Frequent (79-30%)
25 pachygyria 31 HP:0001302
26 hypoplasia of the corpus callosum 31 HP:0002079
27 knee flexion contracture 31 HP:0006380
28 intellectual disability, profound 31 HP:0002187
29 muscular hypotonia of the trunk 31 HP:0008936
30 long palpebral fissure 31 HP:0000637
31 thoracic scoliosis 31 HP:0002943
32 postaxial polydactyly 31 HP:0100259
33 abnormally large globe 31 HP:0001090
34 thick corpus callosum 31 HP:0007074
35 vascular ring 31 HP:0010775

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Face:
frontal bossing

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

Skeletal Hands:
postaxial polydactyly

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

Head And Neck Nose:
low bridge

Skeletal Limbs:
flexion contractures at both knees

Neoplasia:
increased risk of medulloblastoma (rare)

Neurologic Central Nervous System:
seizures
megalencephaly
hydrocephalus
polymicrogyria
thick corpus callosum
more
Skeletal Spine:
kyphosis
s-scoliosis of thoracic spine

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
vascular ring
mitral regurgitation, mild

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 (Updated 05-Apr-2021)

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


seizures

GenomeRNAi Phenotypes related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.36 PIK3R2
2 Decreased viability GR00221-A-1 9.36 AKT3 PIK3R2
3 Decreased viability GR00221-A-2 9.36 AKT3 PIK3R2
4 Decreased viability GR00221-A-3 9.36 AKT3
5 Decreased viability GR00221-A-4 9.36 AKT3 PIK3R2
6 Decreased viability GR00249-S 9.36 PIK3R2
7 Decreased viability GR00301-A 9.36 AKT3 PIK3R2

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:

# Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 29 PIK3R2
2 Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome 29

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

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

40
Brain, Tongue, Kidney, Skeletal Muscle, Cortex

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

Articles related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

(show all 49)
# Title Authors PMID Year
1
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 25 57 6 61
22228622 2012
2
Megalencephaly and polymicrogyria with polydactyly syndrome. 61 6 57 25
17675034 2007
3
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 57 25 6
23745724 2014
4
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 6 25 57
22729224 2012
5
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 61 6 25
24705253 2014
6
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. 6 25
26860062 2016
7
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. 6 25
26520804 2015
8
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 6 25
24497998 2014
9
Somatic activation of AKT3 causes hemispheric developmental brain malformations. 25 6
22500628 2012
10
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. 57 25
15627943 2004
11
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. 6
29051493 2017
12
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase. 6
28566443 2017
13
Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel. 6
28502725 2017
14
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 6
28086757 2017
15
MPPH Syndrome 6
27854409 2016
16
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. 25 61
25523067 2015
17
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. 61 25
22859694 2013
18
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 6
22729223 2012
19
High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability. 6
21984976 2011
20
Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome. 57
20803648 2010
21
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. 57
19353582 2009
22
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. 57
18076119 2008
23
Oncogenic PI3K and its role in cancer. 6
16357568 2006
24
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. 57
9788554 1998
25
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 25
27159400 2016
26
Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature. 25
26853090 2016
27
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. 25
26523971 2015
28
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene. 25
25091978 2015
29
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. 25
25416470 2015
30
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. 25
26852507 2015
31
Phenotypes of AKT3 deletion: a case report and literature review. 25
25424989 2015
32
Somatic mutations in cerebral cortical malformations. 25
25140959 2014
33
Duplication of AKT3 is associated with macrocephaly and speech delay. 25
24700746 2014
34
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. 25
24888963 2014
35
The critical role of cyclin D2 in cell cycle progression and tumorigenicity of glioblastoma stem cells. 25
22964630 2013
36
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. 25
23794269 2013
37
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. 25
21934713 2012
38
PI3K signalling: the path to discovery and understanding. 25
22358332 2012
39
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 25
21800092 2012
40
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. 25
21793738 2011
41
MPPH syndrome: two new cases. 25
21481746 2011
42
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. 25
20503325 2010
43
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. 25
19369601 2009
44
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. 25
18474936 2008
45
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. 25
18058629 2007
46
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. 25
16807158 2006
47
The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. 25
16847462 2006
48
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. 61
32446860 2020
49
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. 61
30573562 2019

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

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

6 (show top 50) (show all 77)
# 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 CCND2 NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) SNV Pathogenic 143981 rs587777618 GRCh37: 12:4409143-4409143
GRCh38: 12:4299977-4299977
4 CCND2 NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) SNV Pathogenic 143982 rs587777619 GRCh37: 12:4409113-4409113
GRCh38: 12:4299947-4299947
5 CCND2 NM_001759.4(CCND2):c.841C>T (p.Pro281Ser) SNV Pathogenic 143984 rs587777621 GRCh37: 12:4409146-4409146
GRCh38: 12:4299980-4299980
6 CCND2 NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) SNV Pathogenic 143985 rs587777622 GRCh37: 12:4409147-4409147
GRCh38: 12:4299981-4299981
7 CCND2 NM_001759.4(CCND2):c.842C>T (p.Pro281Leu) SNV Pathogenic 143986 rs587777622 GRCh37: 12:4409147-4409147
GRCh38: 12:4299981-4299981
8 PIK3R2 NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro) SNV Pathogenic 143990 rs587777624 GRCh37: 19:18273869-18273869
GRCh38: 19:18163059-18163059
9 CCND2 NM_001759.4(CCND2):c.851T>G (p.Val284Gly) SNV Pathogenic 273674 rs777786993 GRCh37: 12:4409156-4409156
GRCh38: 12:4299990-4299990
10 PIK3R2 NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg) SNV Pathogenic 995384 GRCh37: 19:18273820-18273820
GRCh38: 19:18163010-18163010
11 AKT3 NM_005465.7(AKT3):c.963T>G (p.Asn321Lys) SNV Pathogenic 995385 GRCh37: 1:243716231-243716231
GRCh38: 1:243552929-243552929
12 overlap with 12 genes Deletion Pathogenic 243062 GRCh37: 1:242263612-244559673
GRCh38: 1:242100310-244396371
13 AKT3 NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) SNV Pathogenic 39814 rs587776935 GRCh37: 1:243668598-243668598
GRCh38: 1:243505296-243505296
14 CCND2 NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) SNV Pathogenic 143983 rs587777620 GRCh37: 12:4409144-4409144
GRCh38: 12:4299978-4299978
15 PIK3R2 NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) SNV Pathogenic/Likely pathogenic 39808 rs587776934 GRCh37: 19:18273784-18273784
GRCh38: 19:18162974-18162974
16 PIK3R2 NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) SNV Likely pathogenic 976716 GRCh37: 19:18273098-18273098
GRCh38: 19:18162288-18162288
17 AKT3 NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) SNV Likely pathogenic 807366 rs1574509510 GRCh37: 1:243675650-243675650
GRCh38: 1:243512348-243512348
18 AKT3 NM_005465.7(AKT3):c.548T>A (p.Val183Asp) SNV Likely pathogenic 273671 rs886041100 GRCh37: 1:243800926-243800926
GRCh38: 1:243637624-243637624
19 PIK3R2 NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu) SNV Likely pathogenic 625283 rs1568636630 GRCh37: 19:18273263-18273263
GRCh38: 19:18162453-18162453
20 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
21 PIK3R2 NM_005027.4(PIK3R2):c.29G>A (p.Arg10His) SNV Uncertain significance 1032968 GRCh37: 19:18266718-18266718
GRCh38: 19:18155908-18155908
22 PIK3R2 NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln) SNV Uncertain significance 1037102 GRCh37: 19:18266745-18266745
GRCh38: 19:18155935-18155935
23 PIK3R2 NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu) SNV Uncertain significance 1042867 GRCh37: 19:18273859-18273859
GRCh38: 19:18163049-18163049
24 PIK3R2 NM_005027.4(PIK3R2):c.1290+4C>T SNV Uncertain significance 235355 rs376614345 GRCh37: 19:18273961-18273961
GRCh38: 19:18163151-18163151
25 PIK3R2 NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu) SNV Uncertain significance 640307 rs754971694 GRCh37: 19:18273955-18273955
GRCh38: 19:18163145-18163145
26 PIK3R2 NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val) SNV Uncertain significance 859412 GRCh37: 19:18266796-18266796
GRCh38: 19:18155986-18155986
27 PIK3R2 NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro) SNV Uncertain significance 864121 GRCh37: 19:18271338-18271338
GRCh38: 19:18160528-18160528
28 PIK3R2 NM_005027.4(PIK3R2):c.302G>A (p.Arg101His) SNV Uncertain significance 969916 GRCh37: 19:18266991-18266991
GRCh38: 19:18156181-18156181
29 PIK3R2 NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu) SNV Uncertain significance 1015086 GRCh37: 19:18266748-18266748
GRCh38: 19:18155938-18155938
30 PIK3R2 NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile) SNV Uncertain significance 1024526 GRCh37: 19:18276981-18276981
GRCh38: 19:18166171-18166171
31 AKT3 NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys) SNV Uncertain significance 846856 GRCh37: 1:243736295-243736295
GRCh38: 1:243572993-243572993
32 PIK3R2 NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys) SNV Uncertain significance 851028 GRCh37: 19:18266834-18266834
GRCh38: 19:18156024-18156024
33 PIK3R2 NM_005027.4(PIK3R2):c.706G>A (p.Ala236Thr) SNV Uncertain significance 856239 GRCh37: 19:18272196-18272196
GRCh38: 19:18161386-18161386
34 AKT3 NM_005465.7(AKT3):c.820-10T>G SNV Uncertain significance 489265 rs370193515 GRCh37: 1:243727160-243727160
GRCh38: 1:243563858-243563858
35 AKT3 NM_005465.7(AKT3):c.682G>A (p.Val228Ile) SNV Uncertain significance 964313 GRCh37: 1:243776987-243776987
GRCh38: 1:243613685-243613685
36 PIK3R2 NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn) SNV Uncertain significance 852490 GRCh37: 19:18271878-18271878
GRCh38: 19:18161068-18161068
37 PIK3R2 NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) SNV Uncertain significance 661297 rs1041937206 GRCh37: 19:18273283-18273283
GRCh38: 19:18162473-18162473
38 PIK3R2 NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser) SNV Uncertain significance 663183 rs1421203694 GRCh37: 19:18273791-18273791
GRCh38: 19:18162981-18162981
39 AKT3 NM_005465.7(AKT3):c.1276G>C (p.Val426Leu) SNV Uncertain significance 475212 rs868556430 GRCh37: 1:243675704-243675704
GRCh38: 1:243512402-243512402
40 PIK3R2 NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr) SNV Uncertain significance 536232 rs1168878327 GRCh37: 19:18272211-18272211
GRCh38: 19:18161401-18161401
41 PIK3R2 NC_000019.10:g.(?_18167110)_(18169314_?)dup Duplication Uncertain significance 831457 GRCh37: 19:18277920-18280124
GRCh38:
42 PIK3R2 NM_005027.4(PIK3R2):c.1694C>A (p.Pro565Gln) SNV Uncertain significance 930260 GRCh37: 19:18278074-18278074
GRCh38: 19:18167264-18167264
43 PIK3R2 NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs) Duplication Uncertain significance 930706 GRCh37: 19:18266751-18266752
GRCh38: 19:18155941-18155942
44 PIK3R2 NM_005027.4(PIK3R2):c.1809-3_1809-2insCCCCCCG Insertion Uncertain significance 931214 GRCh37: 19:18279533-18279534
GRCh38: 19:18168723-18168724
45 AKT3 NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys) SNV Uncertain significance 931499 GRCh37: 1:243708822-243708822
GRCh38: 1:243545520-243545520
46 AKT3 NM_005465.7(AKT3):c.238A>T (p.Thr80Ser) SNV Uncertain significance 955844 GRCh37: 1:243828120-243828120
GRCh38: 1:243664818-243664818
47 AKT3 NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu) SNV Uncertain significance 958474 GRCh37: 1:243668594-243668594
GRCh38: 1:243505292-243505292
48 PIK3R2 NM_005027.4(PIK3R2):c.821A>C (p.Glu274Ala) SNV Uncertain significance 976372 GRCh37: 19:18272781-18272781
GRCh38: 19:18161971-18161971
49 AKT3 NM_005465.7(AKT3):c.224G>A (p.Arg75Lys) SNV Uncertain significance 475213 rs1553428545 GRCh37: 1:243828134-243828134
GRCh38: 1:243664832-243664832
50 PIK3R2 NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys) SNV Uncertain significance 468316 rs765672206 GRCh37: 19:18277096-18277096
GRCh38: 19:18166286-18166286

UniProtKB/Swiss-Prot genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

72
# 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

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...

Pathways related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

Pathways related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 PIK3R2 CCND2 AKT3
2
Show member pathways
12.58 PIK3R2 CCND2 AKT3
3
Show member pathways
12.48 PIK3R2 CCND2 AKT3
4 12.41 PIK3R2 CCND2 AKT3
5
Show member pathways
12.38 PIK3R2 CCND2 AKT3
6
Show member pathways
12.23 PIK3R2 CCND2 AKT3
7
Show member pathways
12.14 PIK3R2 AKT3
8
Show member pathways
12.13 PIK3R2 AKT3
9 12.13 PIK3R2 AKT3
10
Show member pathways
12.13 PIK3R2 AKT3
11
Show member pathways
12.12 PIK3R2 AKT3
12
Show member pathways
12.1 PIK3R2 AKT3
13
Show member pathways
12.08 PIK3R2 AKT3
14 12.07 PIK3R2 AKT3
15
Show member pathways
12.06 PIK3R2 AKT3
16 12.04 PIK3R2 AKT3
17 12.04 PIK3R2 CCND2
18
Show member pathways
12.03 PIK3R2 CCND2 AKT3
19
Show member pathways
11.96 PIK3R2 AKT3
20
Show member pathways
11.96 PIK3R2 AKT3
21
Show member pathways
11.96 PIK3R2 AKT3
22
Show member pathways
11.95 PIK3R2 AKT3
23
Show member pathways
11.94 PIK3R2 CCND2 AKT3
24 11.93 PIK3R2 CCND2
25
Show member pathways
11.92 PIK3R2 AKT3
26
Show member pathways
11.89 PIK3R2 AKT3
27
Show member pathways
11.89 PIK3R2 AKT3
28
Show member pathways
11.88 PIK3R2 AKT3
29
Show member pathways
11.88 PIK3R2 AKT3
30
Show member pathways
11.88 PIK3R2 CCND2 AKT3
31 11.86 PIK3R2 AKT3
32 11.85 PIK3R2 AKT3
33 11.84 PIK3R2 AKT3
34 11.83 PIK3R2 AKT3
35 11.83 PIK3R2 AKT3
36
Show member pathways
11.81 PIK3R2 CCND2
37 11.79 PIK3R2 AKT3
38
Show member pathways
11.79 PIK3R2 CCND2 AKT3
39 11.78 PIK3R2 AKT3
40
Show member pathways
11.77 PIK3R2 AKT3
41 11.77 PIK3R2 AKT3
42 11.77 PIK3R2 CCND2 AKT3
43 11.76 PIK3R2 AKT3
44 11.74 PIK3R2 AKT3
45 11.71 PIK3R2 AKT3
46 11.7 PIK3R2 AKT3
47
Show member pathways
11.7 PIK3R2 AKT3
48 11.69 PIK3R2 AKT3
49 11.65 PIK3R2 AKT3
50 11.63 PIK3R2 AKT3

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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