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

Aliases & Descriptions for Macrocephaly/autism Syndrome:

Name: Macrocephaly/autism Syndrome 54 24 66 13 69
Macrocephaly-Intellectual Disability-Autism Syndrome 12 56
Autism with Macrocephaly 24 29
Macrocephaly-Autism Syndrome 12
Mcephas 66

Characteristics:

Orphanet epidemiological data:

56
macrocephaly-intellectual disability-autism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
macrocephaly/autism syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 605309
Disease Ontology 12 DOID:0060867
Orphanet 56 ORPHA210548
MedGen 40 C1854416

Summaries for Macrocephaly/autism Syndrome

Disease Ontology : 12 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 obesity, frontal bossing and global developmental delay. An important gene associated with Macrocephaly/autism Syndrome is PTEN (Phosphatase And Tensin Homolog). The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include cortex, amygdala and prefrontal cortex.

UniProtKB/Swiss-Prot : 66 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: 605309

Related Diseases for Macrocephaly/autism Syndrome

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

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1h 9.8 HEPACAM PTEN
2 malignant melanoma, somatic 9.7 HEPACAM PTEN

Symptoms & Phenotypes for Macrocephaly/autism Syndrome

Symptoms by clinical synopsis from OMIM:

605309

Clinical features from OMIM:

605309

Human phenotypes related to Macrocephaly/autism Syndrome:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 frontal bossing 32 HP:0002007
3 global developmental delay 32 HP:0001263
4 depressed nasal bridge 32 HP:0005280
5 short nose 32 HP:0003196
6 long philtrum 32 HP:0000343
7 biparietal narrowing 32 HP:0004422
8 autism 32 HP:0000717
9 broad forehead 32 HP:0000337
10 postnatal macrocephaly 32 HP:0005490

Drugs & Therapeutics for Macrocephaly/autism Syndrome

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
2
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Anti-Infective Agents Phase 1, Phase 2
6 Immunosuppressive Agents Phase 1, Phase 2
7 Antifungal Agents Phase 1, Phase 2
8 Antibiotics, Antitubercular Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN) Recruiting NCT02991807 Phase 1, Phase 2
2 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446

Search NIH Clinical Center for Macrocephaly/autism Syndrome

Genetic Tests for Macrocephaly/autism Syndrome

Genetic tests related to Macrocephaly/autism Syndrome:

id Genetic test Affiliating Genes
1 Macrocephaly/autism Syndrome 29 24 PTEN

Anatomical Context for Macrocephaly/autism Syndrome

MalaCards organs/tissues related to Macrocephaly/autism Syndrome:

39
Cortex, Amygdala, Prefrontal Cortex

Publications for Macrocephaly/autism Syndrome

Articles related to Macrocephaly/autism Syndrome:

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

Variations for Macrocephaly/autism Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 PTEN p.His93Arg VAR_032634 rs121909238
2 PTEN p.Phe241Ser VAR_032636 rs121909240
3 PTEN p.Asp252Gly VAR_032637 rs121909239
4 PTEN p.Thr131Ile VAR_076762 rs397514560
5 PTEN p.Thr167Asn VAR_076763 rs397514559

ClinVar genetic disease variations for Macrocephaly/autism Syndrome:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
2 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
3 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
4 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
5 PTEN NM_000314.6(PTEN): c.278A> G (p.His93Arg) single nucleotide variant Pathogenic rs121909238 GRCh37 Chromosome 10, 89692794: 89692794
6 PTEN NM_000314.6(PTEN): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs121909239 GRCh37 Chromosome 10, 89717730: 89717730
7 PTEN NM_000314.6(PTEN): c.722T> C (p.Phe241Ser) single nucleotide variant Pathogenic rs121909240 GRCh37 Chromosome 10, 89717697: 89717697
8 PTEN PTEN, 1-BP INS, 519T insertion Pathogenic
9 PTEN NM_000314.6(PTEN): c.500C> A (p.Thr167Asn) single nucleotide variant Pathogenic rs397514559 GRCh37 Chromosome 10, 89711882: 89711882
10 PTEN NM_000314.6(PTEN): c.392C> T (p.Thr131Ile) single nucleotide variant Pathogenic rs397514560 GRCh37 Chromosome 10, 89692908: 89692908
11 PTEN NM_000314.6(PTEN): c.405dupA (p.Cys136Metfs) duplication Pathogenic rs398123323 GRCh38 Chromosome 10, 87933164: 87933164
12 PTEN NM_000314.6(PTEN): c.545T> C (p.Leu182Ser) single nucleotide variant Pathogenic rs794729664 GRCh37 Chromosome 10, 89711927: 89711927
13 PTEN NM_000314.6(PTEN): c.1048dupA (p.Thr350Asnfs) duplication Pathogenic rs797045066 GRCh37 Chromosome 10, 89725065: 89725065
14 PTEN NM_000314.6(PTEN): c.900delC (p.Ile300Metfs) deletion Pathogenic rs797045904 GRCh37 Chromosome 10, 89720749: 89720749
15 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
16 PTEN NM_000314.6(PTEN): c.740T> C (p.Leu247Ser) single nucleotide variant Pathogenic rs1057519368 GRCh38 Chromosome 10, 87957958: 87957958
17 PTEN NM_000314.6(PTEN): c.827delA (p.Asn276Ilefs) deletion Pathogenic rs886044679 GRCh37 Chromosome 10, 89720676: 89720676
18 PTEN NM_000314.6(PTEN): c.44_45dupGA (p.Tyr16Aspfs) duplication Pathogenic rs1057524874 GRCh38 Chromosome 10, 87864513: 87864514

Expression for Macrocephaly/autism Syndrome

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

Pathways for Macrocephaly/autism Syndrome

GO Terms for Macrocephaly/autism Syndrome

Sources for Macrocephaly/autism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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