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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Megalencephaly
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Accession:HP:0001355 term browser browse the term
Definition:Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
Comment:Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces.
Synonyms:exact_synonym: Macrencephaly
 broad_synonym: Enlarged brain
 xref: SNOMEDCT_US:19410003;   UMLS:C0221355


show annotations for term's descendants           Sort by:
Megalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 IAGP HPO ORPHA:83473 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G CCND2 cyclin D2 IAGP HPO MIM:615938 ORPHA:83473 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:280195 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain IAGP HPO MIM:614499 NCBI chr12:93,677,375...93,894,840
Ensembl chr12:93,677,375...93,894,840 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:280195 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:280195 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:280195 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP HPO MIM:620315 NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280195 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:100800 MIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:280195 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:280195 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:280195 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO MIM:604004 MIM:613925 MIM:613926 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO MIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G MLC1 modulator of VRAC current 1 IAGP HPO MIM:604004 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:616638 ORPHA:457485 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:620748 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:280195 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:602501 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO MIM:603387 ORPHA:83473 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:280195 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP HPO MIM:311510 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:280195 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:280195 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:601707 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:280195 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STRADA STE20 related adaptor alpha IAGP HPO MIM:611087 ORPHA:500533 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO MIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:280195 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:280195 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Hemimegalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 IAGP HPO MIM:615937 ORPHA:99802 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP HPO MIM:604364 ORPHA:98820 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: Hemimegalencephaly HPO
ClinVar		 PMID:24631838 PMID:25799227 PMID:28864461 PMID:29281825 MIM:607341 MIM:616638 ORPHA:99802 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NPRL2 NPR2 like, GATOR1 complex subunit IAGP HPO ORPHA:98820 NCBI chr 3:50,347,330...50,350,775
Ensembl chr 3:50,347,330...50,350,826 		JBrowse link
G NPRL3 NPR3 like, GATOR1 complex subunit IAGP HPO ORPHA:98820 NCBI chr16:85,386...138,673
Ensembl chr16:84,271...138,677 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Hemimegalencephaly ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:140944 ORPHA:99802 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Hemimegalencephaly ClinVar
HPO		 PMID:25741868 MIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RHEB Ras homolog, mTORC1 binding IAGP ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:30414531 NCBI chr 7:151,466,012...151,519,895
Ensembl chr 7:151,466,012...151,520,120 		JBrowse link
G RPS6 ribosomal protein S6 IAGP ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:601707 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 MIM:607341 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:607341 MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the nervous system 33675
        Abnormal nervous system morphology 8689
          Morphological central nervous system abnormality 8572
            Abnormal brain morphology 4283
              Abnormal forebrain morphology 3119
                Abnormal cerebral morphology 3010
                  Megalencephaly 47
                    Dysplastic megalencephaly 0
                    Hemimegalencephaly 17
                    Temporal lobe megalencephaly 0
paths to the root