Megalencephaly




Input patient's signs and symptoms


Narrow down the case reports



Total: 137 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 9102812
 [Soto's syndrome (cerebral gigantism)].
Jovic NS, Vranjesevic DN, Jovic JZ, Marinkovic DD.
Srp Arh Celok Lek. 1996;124(1-2):37-40.
Dolichocephaly Large hands Prominent forehead
CIP2A MELTF
Child, Preschool Gigantism Homo sapiens Intellectual Disability Male Syndrome
2
(50.0%)		 19353582
 Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB.
Am J Med Genet A. 2009;149A(5):868-76.
Macrocephaly Coarse facial features Postaxial polydactyly
Central Nervous System Vascular Malformations Females Homo sapiens Hydrocephalus Infant Magnetic Resonance Imaging Male Malformations of Cortical Development Mutation Polydactyly Syndrome
3
(48.8%)		 28018470
(5177701)
 Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS.
Korean J Pediatr. 2016;59(Suppl 1):S152-S156.
Macrocephaly Syndactyly
3
(48.8%)		 25416470
 Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M.
Childs Nerv Syst. 2015;31(3):465-71.
Syndactyly Progressive macrocephaly
AKT3 MTOR
rs397514605
Homo sapiens Infant Macrocephaly Male Mutation Proto-Oncogene Proteins c-akt
3
(48.8%)		 24092603
 Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.
Zamora TG, Roberts KD.
BMJ Case Rep. 2013;2013:.
Macrocephaly Postaxial polydactyly
Diagnostic Imaging Differential Diagnosis Disease Progression Homo sapiens Hydrocephalus Infant, Newborn Male Malformations of Cortical Development Polydactyly
3
(48.8%)		 18474936
 Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.
Pisano T, Meloni M, Cianchetti C, Falchi M, Nucaro A, Pruna D.
J Child Neurol. 2008;23(8):916-8.
Macrocephaly Syndactyly
Brain Cephalometry Craniofacial Abnormalities Developmental Disabilities Females Follow-Up Studies Homo sapiens Hydrocephalus Infant Magnetic Resonance Imaging Malformations of Cortical Development Neurologic Examination Syndactyly Syndrome
3
(48.8%)		 17675034
 Megalencephaly and polymicrogyria with polydactyly syndrome.
Tohyama J, Akasaka N, Saito N, Yoshimura J, Nishiyama K, Kato M.
Pediatr Neurol. 2007;37(2):148-51.
Macrocephaly Polydactyly
rs587777624
Brain Child, Preschool Developmental Disabilities Epilepsy Females Homo sapiens Hydrocephalus Magnetic Resonance Imaging Polydactyly Syndrome
3
(48.8%)		 16807158
 A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.
Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-Francois L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L.
Eur J Med Genet. 2006;49(6):466-71.
Macrocephaly Polydactyly
Brain Females Homo sapiens Hydrocephalus Infant Magnetic Resonance Imaging Polydactyly Syndrome
9
(47.6%)		 7081297
 The neurofaciodigitorenal (NFDR) syndrome.
Freire-Maia N, Pinheiro M, Opitz JM.
Am J Med Genet. 1982;11(3):329-36.
Broad hallux Prominent forehead
Child Child, Preschool Dermatoglyphics Electrocardiography Electroencephalography Face Fingers Genes, Recessive Growth Disorders Homo sapiens Intellectual Disability Kidney Male Meiosis Mutation Syndrome
10
(47.5%)		 23794269
 Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
Wang D, Zeesman S, Tarnopolsky MA, Nowaczyk MJ.
Am J Med Genet A. 2013;161A(8):2016-9.
Macrocephaly Short philtrum
AKT3
Chromosomes, Human, Pair 1 Developmental Disabilities Females Gene Duplication Homo sapiens Infant, Newborn Intellectual Disability Macrocephaly Phenotype Proto-Oncogene Proteins c-akt
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000235 Abnormality of the fontanelles or cranial sutures Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000269 Prominent occiput Very frequent (99-80%)
HP:0000307 Pointed chin Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001956 Truncal obesity Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0000040 Long penis Frequent (79-30%)
HP:0000053 Macroorchidism Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 93

HPO ID Term # of case reports
HP:0000238 Hydrocephalus 23
HP:0001250 Seizures 14
HP:0002352 Leukoencephalopathy 14
HP:0010442 Polydactyly 10
HP:0025104 Capillary malformation 10
HP:0025356 Psychomotor retardation 9
HP:0000256 Macrocephaly 8
HP:0001548 Overgrowth 7
HP:0001251 Ataxia 6
HP:0001257 Spasticity 6
HP:0100259 Postaxial polydactyly 5
HP:0001249 Intellectual disability 4
HP:0000316 Hypertelorism 3
HP:0004099 Macrodactyly 3
HP:0001048 Cavernous hemangioma 2
HP:0001159 Syndactyly 2
HP:0001561 Polyhydramnios 2
HP:0001943 Hypoglycemia 2
HP:0002119 Ventriculomegaly 2
HP:0002171 Gliosis 2
HP:0002361 Psychomotor deterioration 2
HP:0002516 Increased intracranial pressure 2
HP:0002650 Scoliosis 2
HP:0010816 Epidermal nevus 2
HP:0010817 Linear nevus sebaceous 2
HP:0011220 Prominent forehead 2
HP:0031273 Shock 2
HP:0100555 Asymmetric growth 2
HP:0000028 Cryptorchidism 1
HP:0000268 Dolichocephaly 1
HP:0000486 Strabismus 1
HP:0000612 Iris coloboma 1
HP:0000717 Autism 1
HP:0000726 Dementia 1
HP:0000738 Hallucinations 1
HP:0000824 Growth hormone deficiency 1
HP:0000965 Cutis marmorata 1
HP:0000969 Edema 1
HP:0001009 Telangiectasia 1
HP:0001028 Hemangioma 1
HP:0001176 Large hands 1
HP:0001263 Global developmental delay 1
HP:0001270 Motor delay 1
HP:0001272 Cerebellar atrophy 1
HP:0001276 Hypertonia 1
HP:0001285 Spastic tetraparesis 1
HP:0001298 Encephalopathy 1
HP:0001300 Parkinsonism 1
HP:0001302 Pachygyria 1
HP:0001320 Cerebellar vermis hypoplasia 1
HP:0001324 Muscle weakness 1
HP:0001337 Tremor 1
HP:0001511 Intrauterine growth retardation 1
HP:0001513 Obesity 1
HP:0001582 Redundant skin 1
HP:0001611 Nasal speech 1
HP:0002007 Frontal bossing 1
HP:0002196 Myelopathy 1
HP:0002200 Pseudobulbar signs 1
HP:0002212 Curly hair 1
HP:0002282 Gray matter heterotopia 1
HP:0002312 Clumsiness 1
HP:0002389 Cavum septum pellucidum 1
HP:0002410 Aqueductal stenosis 1
HP:0002446 Astrocytosis 1
HP:0002463 Language impairment 1
HP:0002539 Cortical dysplasia 1
HP:0002902 Hyponatremia 1
HP:0003701 Proximal muscle weakness 1
HP:0004322 Short stature 1
HP:0004482 Relative macrocephaly 1
HP:0006136 Bilateral postaxial polydactyly 1
HP:0006994 Diffuse leukoencephalopathy 1
HP:0007074 Thick corpus callosum 1
HP:0009716 Subependymal nodules 1
HP:0009717 Cortical tubers 1
HP:0009729 Cardiac rhabdomyoma 1
HP:0010055 Broad hallux 1
HP:0011344 Severe global developmental delay 1
HP:0012385 Camptodactyly 1
HP:0012426 Optic disc drusen 1
HP:0012733 Macule 1
HP:0012759 Neurodevelopmental abnormality 1
HP:0030050 Narcolepsy 1
HP:0030430 Neuroma 1
HP:0030731 Carcinoma 1
HP:0032046 Focal cortical dysplasia 1
HP:0040010 Small posterior fossa 1
HP:0100315 Lewy bodies 1
HP:0100320 Rosenthal fibres 1
HP:0100543 Cognitive impairment 1
HP:0100660 Dyskinesia 1
HP:0200134 Epileptic encephalopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID