MCID: MCR096
MIFTS: 29

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 57 75 29 13 6 40 73
Macrocephaly-Intellectual Disability-Autism Syndrome 12 59
Macrocephaly-Autism Syndrome 12
Mcephas 75

Characteristics:

Orphanet epidemiological data:

59
macrocephaly-intellectual disability-autism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
macrocephaly/autism syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605309
Disease Ontology 12 DOID:0060867
Orphanet 59 ORPHA210548
UMLS via Orphanet 74 C1854416
MedGen 42 C1854416
UMLS 73 C1854416

Summaries for Macrocephaly/autism Syndrome

OMIM : 57 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 pten hamartoma tumor syndrome. An important gene associated with Macrocephaly/autism Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include b cells, t cells and cortex, and related phenotypes are obesity and frontal bossing

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 : 75 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
2 pten hamartoma tumor syndrome 9.2 KLLN PTEN
3 cowden syndrome 1 9.1 KLLN PTEN
4 cowden disease 8.9 KLLN PTEN

Symptoms & Phenotypes for Macrocephaly/autism Syndrome

Symptoms via clinical synopsis from OMIM:

57
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
AbdomenSpleen:
splenomegaly (in some patients)


Clinical features from OMIM:

605309

Human phenotypes related to Macrocephaly/autism Syndrome:

32 (show all 10)
# 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

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 29 PTEN

Anatomical Context for Macrocephaly/autism Syndrome

MalaCards organs/tissues related to Macrocephaly/autism Syndrome:

41
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:

75
# 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 33)
# 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.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh38 Chromosome 10, 87957915: 87957915
3 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
4 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh38 Chromosome 10, 87933147: 87933147
5 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
6 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh38 Chromosome 10, 87957858: 87957858
7 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
8 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
9 PTEN NM_000314.6(PTEN): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs121909239 GRCh37 Chromosome 10, 89717730: 89717730
10 PTEN NM_000314.6(PTEN): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs121909239 GRCh38 Chromosome 10, 87957973: 87957973
11 PTEN PTEN, 1-BP INS, 519T insertion Pathogenic
12 PTEN NM_000314.6(PTEN): c.500C> A (p.Thr167Asn) single nucleotide variant Pathogenic rs397514559 GRCh37 Chromosome 10, 89711882: 89711882
13 PTEN NM_000314.6(PTEN): c.500C> A (p.Thr167Asn) single nucleotide variant Pathogenic rs397514559 GRCh38 Chromosome 10, 87952125: 87952125
14 PTEN NM_000314.6(PTEN): c.392C> T (p.Thr131Ile) single nucleotide variant Pathogenic rs397514560 GRCh37 Chromosome 10, 89692908: 89692908
15 PTEN NM_000314.6(PTEN): c.392C> T (p.Thr131Ile) single nucleotide variant Pathogenic rs397514560 GRCh38 Chromosome 10, 87933151: 87933151
16 PTEN NM_000314.6(PTEN): c.405dupA (p.Cys136Metfs) duplication Pathogenic rs398123323 GRCh38 Chromosome 10, 87933164: 87933164
17 PTEN NM_000314.6(PTEN): c.405dupA (p.Cys136Metfs) duplication Pathogenic rs398123323 GRCh37 Chromosome 10, 89692921: 89692921
18 PTEN NM_000314.6(PTEN): c.545T> C (p.Leu182Ser) single nucleotide variant Pathogenic rs794729664 GRCh37 Chromosome 10, 89711927: 89711927
19 PTEN NM_000314.6(PTEN): c.545T> C (p.Leu182Ser) single nucleotide variant Pathogenic rs794729664 GRCh38 Chromosome 10, 87952170: 87952170
20 PTEN NM_000314.6(PTEN): c.1048dupA (p.Thr350Asnfs) duplication Pathogenic rs797045066 GRCh37 Chromosome 10, 89725065: 89725065
21 PTEN NM_000314.6(PTEN): c.1048dupA (p.Thr350Asnfs) duplication Pathogenic rs797045066 GRCh38 Chromosome 10, 87965308: 87965308
22 PTEN NM_000314.6(PTEN): c.900delC (p.Ile300Metfs) deletion Pathogenic rs797045904 GRCh37 Chromosome 10, 89720749: 89720749
23 PTEN NM_000314.6(PTEN): c.900delC (p.Ile300Metfs) deletion Pathogenic rs797045904 GRCh38 Chromosome 10, 87960992: 87960992
24 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
25 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh37 Chromosome 10, 89720709: 89720709
26 PTEN NM_000314.6(PTEN): c.740T> C (p.Leu247Ser) single nucleotide variant Pathogenic rs1057519368 GRCh38 Chromosome 10, 87957958: 87957958
27 PTEN NM_000314.6(PTEN): c.740T> C (p.Leu247Ser) single nucleotide variant Pathogenic rs1057519368 GRCh37 Chromosome 10, 89717715: 89717715
28 PTEN NM_000314.6(PTEN): c.827delA (p.Asn276Ilefs) deletion Pathogenic rs886044679 GRCh37 Chromosome 10, 89720676: 89720676
29 PTEN NM_000314.6(PTEN): c.827delA (p.Asn276Ilefs) deletion Pathogenic rs886044679 GRCh38 Chromosome 10, 87960919: 87960919
30 PTEN NM_000314.6(PTEN): c.44_45dupGA (p.Tyr16Aspfs) duplication Pathogenic rs1057524874 GRCh38 Chromosome 10, 87864513: 87864514
31 PTEN NM_000314.6(PTEN): c.44_45dupGA (p.Tyr16Aspfs) duplication Pathogenic rs1057524874 GRCh37 Chromosome 10, 89624270: 89624271
32 PTEN NM_000314.6(PTEN): c.470A> G (p.Glu157Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs1085308051 GRCh38 Chromosome 10, 87933229: 87933229
33 PTEN NM_000314.6(PTEN): c.470A> G (p.Glu157Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs1085308051 GRCh37 Chromosome 10, 89692986: 89692986

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

Biological processes related to Macrocephaly/autism Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.16 KLLN PTEN
2 cell cycle GO:0007049 8.96 HEPACAM KLLN
3 cell cycle arrest GO:0007050 8.62 HEPACAM KLLN

Sources for Macrocephaly/autism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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