MCID: MCR096
MIFTS: 29

Macrocephaly/autism Syndrome 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
Autism with Macrocephaly 24 27
 
Macrocephaly-Intellectual Disability-Autism Syndrome 54
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
Orphanet54 ORPHA210548
MedGen37 C1854416

Summaries for Macrocephaly/autism Syndrome

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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).

MalaCards based summary: Macrocephaly/autism Syndrome, also known as autism with macrocephaly, is related to hepatocellular carcinoma and vater association with macrocephaly and ventriculomegaly, 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.

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
1hepatocellular carcinoma9.5HEPACAM, PTEN
2vater association with macrocephaly and ventriculomegaly9.3HEPACAM, 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 2362422916-47-84189
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 2189653123-88-95284616, 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 21896159351-69-66442177
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 212770
5Anti-Infective AgentsPhase 1, Phase 221402
6Antibiotics, AntitubercularPhase 1, Phase 26972
7Antifungal AgentsPhase 1, Phase 23615
8Anti-Bacterial AgentsPhase 1, Phase 210884

Interventional clinical trials:

idNameStatusNCT IDPhase
1RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN)Not yet 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 13)
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.827delA (p.Asn276Ilefs)deletionPathogenicrs886044679GRCh37Chr 10, 89720676: 89720676
6PTENNM_000314.6(PTEN): c.500C> A (p.Thr167Asn)SNVPathogenicrs397514559GRCh37Chr 10, 89711882: 89711882
7PTENNM_000314.6(PTEN): c.392C> T (p.Thr131Ile)SNVPathogenicrs397514560GRCh37Chr 10, 89692908: 89692908
8PTENNM_000314.6(PTEN): c.405dupA (p.Cys136Metfs)duplicationPathogenicrs398123323GRCh38Chr 10, 87933164: 87933164
9PTENNM_000314.6(PTEN): c.388C> T (p.Arg130Ter)SNVPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
10PTENNM_000314.6(PTEN): c.278A> G (p.His93Arg)SNVPathogenicrs121909238GRCh37Chr 10, 89692794: 89692794
11PTENNM_000314.6(PTEN): c.755A> G (p.Asp252Gly)SNVPathogenicrs121909239GRCh37Chr 10, 89717730: 89717730
12PTENNM_000314.6(PTEN): c.722T> C (p.Phe241Ser)SNVPathogenicrs121909240GRCh37Chr 10, 89717697: 89717697
13PTENPTEN, 1-BP INS, 519TinsertionPathogenicChr na, -1: -1

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