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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Autistic Disorder (D001321)
Parent Node: Facies (D019066)
Parent Node: Megalencephaly (D058627)
..Starting node ..Macrocephaly Autism Syndrome (C565342)
Child Nodes:
Sister Nodes:
..Bagatelle Cassidy syndrome (C537796)
..Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
..Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..Fryns Macrocephaly (C563963)
..Hemimegalencephaly (D065705) 1
..Kniest like dysplasia lethal (C537208)
..Macrocephaly Autism Syndrome (C565342)
..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..Macrocephaly, benign familial (C537717)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Megalencephaly with Dysmyelination (C565408)
..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Neuhauser syndrome (C536143)
..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Vater Association With Hydrocephalus (C564752)
..Zori Stalker Williams syndrome (C536728)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6656

Name:

Macrocephaly Autism Syndrome

Definition:

Alternative IDs:

OMIM:605309

ParentIDs:

MESH:D001321|MESH:D019066|MESH:D058627

TreeNumbers:

C05.660.207.536/C565342 |C10.500.507.400.249/C565342 |C16.131.621.207.532/C565342 |C16.131.666.507.400.249/C565342 |C23.550.291.812/C565342 |F03.550.325.125/C565342

Synonyms:

MACROCEPHALY/AUTISM SYNDROME

Slim Mappings:

Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)

Reference:

MedGen: C565342
MeSH: C565342
OMIM: 605309;

Genes: PTEN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000717	Autism
3	HP:0004422	Biparietal narrowing
4	HP:0000337	Broad forehead
5	HP:0005280	Depressed nasal bridge
6	HP:0002007	Frontal bossing
7	HP:0001263	Global developmental delay
8	HP:0000343	Long philtrum
9	HP:0001513	Obesity
10	HP:0005490	Postnatal macrocephaly
11	HP:0003196	Short nose

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000314.6(PTEN):c.278A>G (p.His93Arg)	5728	PTEN	Pathogenic	121909238	RCV000008298; RCV000169792;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89692794	89692794	NM_000314.6:c.278A>G	NP_000305.3:p.His93Arg	NC_000010.10:g.89692794A>G	OMIM Allelic Variant:601728.0037	C0027672 Hereditary cancer-predisposing syndrome; C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter)	5728	PTEN	Pathogenic	121909224	RCV000008263; RCV000008264; RCV000008265; RCV000199099; RCV000078615; RCV000132187;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265326,OMIM:153480,ORPHA:109; MedGen:C1854416,OMIM:605309,ORPHA:210548; MedGen:C1959582, Orphanet:ORPHA306498; MedGen:CN072330,OMIM:158350; MedGen:CN221809	10	89692904	89692904	NM_000314.6:c.388C>T	NP_000305.3:p.Arg130Ter	NC_000010.10:g.89692904C>T	HGMD:CM971273,OMIM Allelic Variant:601728.0007	C0265326 153480 Bannayan-Riley-Ruvalcaba syndrome; CN072330 158350 Cowden syndrome 1; C0027672 Hereditary cancer-predisposing syndrome; C1854416 605309 Macrocephaly/autism syndrome; CN221809 not provided; C1959582 PTEN hamartoma tumor syndrome
NM_000314.6(PTEN):c.392C>T (p.Thr131Ile)	5728	PTEN	Pathogenic	397514560	RCV000032873;	N	MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89692908	89692908	NM_000314.6:c.392C>T	NP_000305.3:p.Thr131Ile	NC_000010.10:g.89692908C>T	OMIM Allelic Variant:601728.0043	C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.405dupA (p.Cys136Metfs)	5728	PTEN	Pathogenic	398123323	RCV000032874; RCV000078617; RCV000162814;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1854416,OMIM:605309,ORPHA:210548; MedGen:CN221809	10	89692921	89692921	NM_000314.6:c.405dupA	NP_000305.3:p.Cys136Metfs	NC_000010.10:g.89692921dupA	OMIM Allelic Variant:601728.0044	C0027672 Hereditary cancer-predisposing syndrome; C1854416 605309 Macrocephaly/autism syndrome; CN221809 not provided
NM_000314.6(PTEN):c.500C>A (p.Thr167Asn)	5728	PTEN	Pathogenic	397514559	RCV000032872;	N	MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89711882	89711882	NM_000314.6:c.500C>A	NP_000305.3:p.Thr167Asn	NC_000010.10:g.89711882C>A	OMIM Allelic Variant:601728.0042	C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.545T>C (p.Leu182Ser)	5728	PTEN	Pathogenic	794729664	RCV000185586;	N	MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89711927	89711927	NM_000314.6:c.545T>C	NP_000305.3:p.Leu182Ser	NC_000010.10:g.89711927T>C	-	C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.722T>C (p.Phe241Ser)	5728	PTEN	Pathogenic	121909240	RCV000008300;	N	MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89717697	89717697	NM_000314.6:c.722T>C	NP_000305.3:p.Phe241Ser	NC_000010.10:g.89717697T>C	OMIM Allelic Variant:601728.0039	C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.755A>G (p.Asp252Gly)	5728	PTEN	Pathogenic	121909239	RCV000008299;	N	MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89717730	89717730	NM_000314.6:c.755A>G	NP_000305.3:p.Asp252Gly	NC_000010.10:g.89717730A>G	OMIM Allelic Variant:601728.0038	C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.860C>G (p.Ser287Ter)	5728	PTEN	Likely pathogenic	863224909	RCV000200784;	N	MedGen:C0265326,OMIM:153480,ORPHA:109; MedGen:C1854416,OMIM:605309,ORPHA:210548; MedGen:CN072330,OMIM:158350	10	89720709	89720709	NM_000314.6:c.860C>G	NP_000305.3:p.Ser287Ter	NC_000010.10:g.89720709C>G	-	C0265326 153480 Bannayan-Riley-Ruvalcaba syndrome; CN072330 158350 Cowden syndrome 1; C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.900delC (p.Ile300Metfs)	5728	PTEN	Pathogenic	797045904	RCV000194729;	N	MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89720749	89720749	NM_000314.6:c.900delC	NP_000305.3:p.Ile300Metfs	NC_000010.10:g.89720749delC	-	C1854416 605309 Macrocephaly/autism syndrome
NM_000314.6(PTEN):c.1048dupA (p.Thr350Asnfs)	5728	PTEN	Pathogenic	797045066	RCV000191123;	N	MedGen:C1854416,OMIM:605309,ORPHA:210548	10	89725065	89725065	NM_000314.6:c.1048dupA	NP_000305.3:p.Thr350Asnfs	NC_000010.10:g.89725065dupA	-	C1854416 605309 Macrocephaly/autism syndrome