MCID: MCR096
MIFTS: 25

Macrocephaly/autism Syndrome

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

Aliases & Classifications for Macrocephaly/autism Syndrome

MalaCards integrated aliases for Macrocephaly/autism Syndrome:

Name: Macrocephaly/autism Syndrome 53 71 28 13 69
Macrocephaly-Intellectual Disability-Autism Syndrome 12 55
Macrocephaly-Autism Syndrome 12
Mcephas 71

Characteristics:

Orphanet epidemiological data:

55
macrocephaly-intellectual disability-autism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
macrocephaly/autism syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 605309
Disease Ontology 12 DOID:0060867
Orphanet 55 ORPHA210548
UMLS via Orphanet 70 C1854416
MedGen 39 C1854416
UMLS 69 C1854416

Summaries for Macrocephaly/autism Syndrome

OMIM : 53 Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016). (605309)

MalaCards based summary : Macrocephaly/autism Syndrome, also known as macrocephaly-intellectual disability-autism syndrome, is related to autism, 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). Affiliated tissues include b cells, t cells and cortex.

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.

UniProtKB/Swiss-Prot : 71 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).

Related Diseases for Macrocephaly/autism Syndrome

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

# Related Disease Score Top Affiliating Genes
1 autism 10.0

Symptoms & Phenotypes for Macrocephaly/autism Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
frontal bossing
long philtrum
broad forehead
square outline
'dished out' midface

Head And Neck Head:
biparietal narrowing
macrocephaly, postnatal

Neurologic Central Nervous System:
developmental delay
mental retardation

Abdomen Liver:
hepatomegaly (in some patients)

Growth Weight:
obesity (in some patients)

Head And Neck Nose:
depressed nasal bridge
short nose

Neurologic Behavioral Psychiatric Manifestations:
autism

Immunology:
recurrent infections (in some patients)
primary immunodeficiency (in some patients)
opportunistic infections (in some patients)
hypogammaglobulinemia (in some patients)
lymphopenia (in some patients)
more
Abdomen Spleen:
splenomegaly (in some patients)


Clinical features from OMIM:

605309

Human phenotypes related to Macrocephaly/autism Syndrome:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 frontal bossing 31 HP:0002007
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 short nose 31 HP:0003196
6 long philtrum 31 HP:0000343
7 biparietal narrowing 31 HP:0004422
8 autism 31 HP:0000717
9 broad forehead 31 HP:0000337
10 postnatal macrocephaly 31 HP:0005490

Drugs & Therapeutics for Macrocephaly/autism Syndrome

Search Clinical Trials , NIH Clinical Center for Macrocephaly/autism Syndrome

Genetic Tests for Macrocephaly/autism Syndrome

Genetic tests related to Macrocephaly/autism Syndrome:

# Genetic test Affiliating Genes
1 Macrocephaly/autism Syndrome 28 PTEN

Anatomical Context for Macrocephaly/autism Syndrome

MalaCards organs/tissues related to Macrocephaly/autism Syndrome:

38
B Cells, T Cells, Cortex, Amygdala, Prefrontal Cortex

Publications for Macrocephaly/autism Syndrome

Articles related to Macrocephaly/autism Syndrome:

# 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:

71
# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
2 PTEN NM_000314.6(PTEN): c.278A> G (p.His93Arg) single nucleotide variant Pathogenic rs121909238 GRCh37 Chromosome 10, 89692794: 89692794
3 PTEN NM_000314.6(PTEN): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs121909239 GRCh37 Chromosome 10, 89717730: 89717730
4 PTEN NM_000314.6(PTEN): c.722T> C (p.Phe241Ser) single nucleotide variant Pathogenic rs121909240 GRCh37 Chromosome 10, 89717697: 89717697
5 PTEN PTEN, 1-BP INS, 519T insertion Pathogenic
6 PTEN NM_000314.6(PTEN): c.500C> A (p.Thr167Asn) single nucleotide variant Pathogenic rs397514559 GRCh37 Chromosome 10, 89711882: 89711882
7 PTEN NM_000314.6(PTEN): c.392C> T (p.Thr131Ile) single nucleotide variant Pathogenic rs397514560 GRCh37 Chromosome 10, 89692908: 89692908
8 PTEN NM_000314.6(PTEN): c.405dupA (p.Cys136Metfs) duplication Pathogenic rs398123323 GRCh38 Chromosome 10, 87933164: 87933164
9 PTEN NM_000314.6(PTEN): c.545T> C (p.Leu182Ser) single nucleotide variant Pathogenic rs794729664 GRCh37 Chromosome 10, 89711927: 89711927
10 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
11 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
12 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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