MCEPHAS
MCID: MCR096
MIFTS: 30

Macrocephaly/autism Syndrome (MCEPHAS) malady

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Macrocephaly/autism Syndrome

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Aliases & Descriptions for Macrocephaly/autism Syndrome:

Name: Macrocephaly/autism Syndrome 52 24 70 12 68
Macrocephaly-Intellectual Disability-Autism Syndrome 11 54
Autism with Macrocephaly 24 27
 
Macrocephaly-Autism Syndrome 11
Mcephas 70

Characteristics:

Orphanet epidemiological data:

54
macrocephaly-intellectual disability-autism syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
macrocephaly/autism syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 605309
Disease Ontology11 DOID:0060867
Orphanet54 ORPHA210548
MedGen37 C1854416

Summaries for Macrocephaly/autism Syndrome

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Disease Ontology:11 An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.

MalaCards based summary: Macrocephaly/autism Syndrome, also known as macrocephaly-intellectual disability-autism syndrome, is related to cardiomyopathy, dilated, 1h and malignant melanoma, somatic, and has symptoms including broad forehead, long philtrum and autism. An important gene associated with Macrocephaly/autism Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include amygdala, prefrontal cortex and cortex.

UniProtKB/Swiss-Prot:70 Macrocephaly/autism syndrome: Patients have autism spectrum disorders and macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age and sex (average head circumference +4.0 SD).

Description from OMIM:52 605309

Related Diseases for Macrocephaly/autism Syndrome

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Diseases related to Macrocephaly/autism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1h9.8HEPACAM, PTEN
2malignant melanoma, somatic9.7HEPACAM, PTEN

Symptoms & Phenotypes for Macrocephaly/autism Syndrome

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Symptoms by clinical synopsis from OMIM:

605309

Clinical features from OMIM:

605309

Human phenotypes related to Macrocephaly/autism Syndrome:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 broad forehead64 HP:0000337
2 long philtrum64 HP:0000343
3 autism64 HP:0000717
4 global developmental delay64 HP:0001263
5 obesity64 HP:0001513
6 frontal bossing64 HP:0002007
7 short nose64 HP:0003196
8 biparietal narrowing64 HP:0004422
9 depressed nasal bridge64 HP:0005280
10 postnatal macrocephaly64 HP:0005490

Drugs & Therapeutics for Macrocephaly/autism Syndrome

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Drugs for Macrocephaly/autism Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigational, vet_approvedPhase 1, Phase 2370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Sirolimusapproved, investigationalPhase 1, Phase 2194053123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
EverolimusapprovedPhase 1, Phase 21940159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
4Immunosuppressive AgentsPhase 1, Phase 213086
5Anti-Infective AgentsPhase 1, Phase 222062
6Antibiotics, AntitubercularPhase 1, Phase 27180
7Antifungal AgentsPhase 1, Phase 23696
8Anti-Bacterial AgentsPhase 1, Phase 211226

Interventional clinical trials:

idNameStatusNCT IDPhase
1RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN)RecruitingNCT02991807Phase 1, Phase 2
2Natural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsRecruitingNCT02461446

Search NIH Clinical Center for Macrocephaly/autism Syndrome

Genetic Tests for Macrocephaly/autism Syndrome

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Genetic tests related to Macrocephaly/autism Syndrome:

id Genetic test Affiliating Genes
1 Macrocephaly/autism Syndrome27 24 PTEN

Anatomical Context for Macrocephaly/autism Syndrome

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MalaCards organs/tissues related to Macrocephaly/autism Syndrome:

36
Amygdala, Prefrontal cortex, Cortex

Publications for Macrocephaly/autism Syndrome

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Articles related to Macrocephaly/autism Syndrome:

idTitleAuthorsYear
1
Hyperconnectivity of prefrontal cortex to amygdala projections in a mouse model of macrocephaly/autism syndrome. (27845329)
2016

Variations for Macrocephaly/autism Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly/autism Syndrome:

70
id Symbol AA change Variation ID SNP ID
1PTENp.His93ArgVAR_032634rs121909238
2PTENp.Phe241SerVAR_032636rs121909240
3PTENp.Asp252GlyVAR_032637rs121909239
4PTENp.Thr131IleVAR_076762rs397514560
5PTENp.Thr167AsnVAR_076763rs397514559

Clinvar genetic disease variations for Macrocephaly/autism Syndrome:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_ 000314.6(PTEN): c.545T> C (p.Leu182Ser)SNVPathogenicrs794729664GRCh37Chr 10, 89711927: 89711927
2PTENNM_ 000314.6(PTEN): c.1048dupA (p.Thr350Asnfs)duplicationPathogenicrs797045066GRCh37Chr 10, 89725065: 89725065
3PTENNM_ 000314.6(PTEN): c.900delC (p.Ile300Metfs)deletionPathogenicrs797045904GRCh37Chr 10, 89720749: 89720749
4PTENNM_ 000314.6(PTEN): c.860C> G (p.Ser287Ter)SNVLikely pathogenicrs863224909GRCh38Chr 10, 87960952: 87960952
5PTENNM_ 000314.6(PTEN): c.740T> C (p.Leu247Ser)SNVPathogenicrs1057519368GRCh38Chr 10, 87957958: 87957958
6PTENNM_ 000314.6(PTEN): c.827delA (p.Asn276Ilefs)deletionPathogenicrs886044679GRCh37Chr 10, 89720676: 89720676
7PTENNM_ 000314.6(PTEN): c.44_ 45dupGA (p.Tyr16Aspfs)duplicationPathogenicrs1057524874GRCh38Chr 10, 87864513: 87864514
8PTENNM_ 000314.6(PTEN): c.500C> A (p.Thr167Asn)SNVPathogenicrs397514559GRCh37Chr 10, 89711882: 89711882
9PTENNM_ 000314.6(PTEN): c.392C> T (p.Thr131Ile)SNVPathogenicrs397514560GRCh37Chr 10, 89692908: 89692908
10PTENNM_ 000314.6(PTEN): c.405dupA (p.Cys136Metfs)duplicationPathogenicrs398123323GRCh38Chr 10, 87933164: 87933164
11PTENNM_ 000314.6(PTEN): c.697C> T (p.Arg233Ter)SNVPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
12PTENNM_ 000314.6(PTEN): c.388C> T (p.Arg130Ter)SNVPathogenic/ Likely pathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
13PTENNM_ 000314.6(PTEN): c.640C> T (p.Gln214Ter)SNVPathogenicrs121909227GRCh37Chr 10, 89717615: 89717615
14PTENNM_ 000314.6(PTEN): c.1003C> T (p.Arg335Ter)SNVPathogenic/ Likely pathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
15PTENNM_ 000314.6(PTEN): c.278A> G (p.His93Arg)SNVPathogenicrs121909238GRCh37Chr 10, 89692794: 89692794
16PTENNM_ 000314.6(PTEN): c.755A> G (p.Asp252Gly)SNVPathogenicrs121909239GRCh37Chr 10, 89717730: 89717730
17PTENNM_ 000314.6(PTEN): c.722T> C (p.Phe241Ser)SNVPathogenicrs121909240GRCh37Chr 10, 89717697: 89717697
18PTENPTEN, 1-BP INS, 519TinsertionPathogenic

Expression for genes affiliated with Macrocephaly/autism Syndrome

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Search GEO for disease gene expression data for Macrocephaly/autism Syndrome.

Pathways for genes affiliated with Macrocephaly/autism Syndrome

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GO Terms for genes affiliated with Macrocephaly/autism Syndrome

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Sources for Macrocephaly/autism Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet