Overview
Resources
Symptoms
Subtypes
Other Names
Therapies
Associated Disorders
Videos
Associated Genes

Autism Spectrum Disorder Overview

Symptoms of Autism Spectrum Disorders

Diagnostic Criteria from the CDC

Regression or loss of previously

Subtypes

Other Names

Therapies

Video Resources

https://youtu.be/-olAoobip5A

Associated Genes

  • A2M
  • A2ML1
  • AAAS
  • AARS
  • AARS2
  • AASS
  • ABAT
  • ABCA1
  • ABCA12
  • ABCA2
  • ABCB6
  • ABCB7
  • ABCC8
  • ABCC9
  • ABCD1
  • ABCD3
  • ABCD4
  • ABHD12
  • ABHD5
  • AB12
  • ACADM
  • ACADS
  • ACADSB
  • ACAT1
  • ACBD6
  • ACD
  • ACHE
  • ACO2
  • ACOX1
  • ACP5
  • ACSF3
  • ACSL4
  • ACTA1
  • ACTB
  • ACTG1
  • ACTL6B
  • ACTN1
  • ACVR1
  • ACY1
  • ADA
  • ADA2
  • ADAM17
  • ADAM22
  • ADAMTS10
  • ADAMTS17
  • ADAMTS2
  • ADAR
  • ADAT3
  • ADCY1
  • ADCY3
  • ADCY5
  • ADD3
  • ADGRG1
  • ADGRV1
  • ADK
  • ADNP
  • ADPRHL2
  • ADRA2B
  • ADSL
  • AFF2- Fragile X Syndrome 2
  • AFF3
  • AFF4
  • AFG3L2
  • AGA
  • AGAP2
  • AGK
  • AGMO
  • AGO1
  • AGO3
  • AGO4
  • AGPAT2
  • AGRN
  • AGTR2
  • AHCY
  • AHDC1
  • AHI1
  • AHNAK
  • AIFMQ
  • AIMP1
  • AIMP2
  • AKAP9
  • AKT1
  • AKT3
  • ALAD
  • ALDH18A1
  • ALDH1A3
  • ALDH3A2
  • ALDH4A1
  • ALDH5A1
  • ALDH6A1
  • ALDH7A1
  • ALDOA
  • ALDOB
  • ALG1
  • ANKRD11- 16q24.3
  • ANK2
  • ARX- Neurodevelopmental Disorders
  • ASH1L
  • ASTN2- 9q33.1
  • BRAF-Noonan Syndrome, Cardiofaciocutaneous Syndrome
  • BRWD3
  • BCL11A
  • CACNA1C-Timothy Syndrome
  • CACNA1H- 16p13.3
  • CADM1-11q23.3
  • CAMK2A
  • CAMK2B
  • CC2D1A
  • CDKL5-Infantile Spasms; Early Seizure Variant Rett Syndrome
  • CELFA
  • CHAMP1
  • CHD2
  • CHD3
  • CHD7- CHARGE Syndrome
  • CHD8
  • CIC
  • CREBBP
  • C12ORF4
  • CNOT3
  • CNTN4-3p26.3-26.2
  • CNTNAP2-7q35-36.1-Autosomal Recessive Intellectual Disability; Pitt-Hopkins
  • CNTNAP5-2q14.3
  • CNTN6
  • COL4A3BP
  • CSNK2A1
  • CTNNB1
  • CTNND2
  • CXCR3-Xq13.1
  • DHCR7- Smith-Lemli-Opitz Syndrome
  • DIAPH3-13q21.2
  • DLGAP2-8p23.3
  • DLL1
  • DPP6-7q35-36.1
  • DPP10-7q36.2
  • DYRK1A
  • EHMT1
  • EIF3F
  • ELP2
  • EN2
  • FABP5-8q21.13
  • FABP7-6q22.31
  • FBXO11
  • FBXO40-3q13.33
  • FGD1-Aarskog Scott Syndrome; Syndromic X-linked Intellectual Disability
  • FMR1-Fragile X Syndrome
  • FOLR1-Cerebral Folate Transport Deficiency
  • FOXG1- Congenital Variant Rett Syndrome
  • FOXP1-3p13- Intellectual Disability with Language Impairment with or without Autistic Features
  • FOXP2- Related Speech- Language Disorders
  • FRMPD4-Xp22.1
  • FTSJ1- X-linked Intellectual Disability
  • GABRB3
  • GAMT
  • GLRA2-Xp22.2
  • GRIA2
  • GRIA3
  • GRIND2A-16p13.2
  • GRIND2B-12p13.1
  • GRPR-Xp22.2
  • HECW2
  • HNRNPH2-Xq22.1
  • KCNMA1- 10q22.3
  • KDM5C
  • KMT2C
  • KMT2E
  • KMT5B
  • L1CAM- Hydrocephalus with Aqueductal Stenosis; MASA Syndrome
  • MAGEL2
  • MAOA
  • MBD1-18q21.1
  • MBD3-19p13.3
  • MBD4-3q21.3
  • MBD5-MBD5 Haploinsufficiency
  • MBOAT7
  • MDGA2-14q21.3
  • MECP2-Xq28- Rett Syndrome; Preserved Speech Variant Rett Syndrome; MECP2-Related Epileptic Encephalopathy in males; X-linked Intellectual Disabilities.
  • MED12
  • MED13
  • MEF2C-5q14.3-Intellectual Disabilities; Stereotypic Movements; Epilepsy; Cerebral Malformations;
  • MT-ATP8
  • MT-CO1
  • MT-CO2
  • MT-CO3
  • MT-CYB
  • MT-ND1
  • MT-ND2
  • MT-ND3
  • MT-ND4
  • MT-ND4L
  • MT-ND5
  • MT-ND6
  • MT-RNR1
  • MT-RNR2
  • MT-TA
  • MT-TC
  • MT-TD
  • MT-TE
  • MT-TF
  • MT-TG
  • MT-TH
  • MT-TI
  • MT-TK
  • MT-TL1
  • MT-TL2
  • MT-TM
  • MT-TN
  • MT-TP
  • MT-TQ
  • MT-RT
  • MT-TS1
  • MT-TS2
  • MT-TT
  • MT-TV
  • MT-TW
  • MT-TY
  • NBEA
  • NF1-Neurofibromatosis 1
  • NFIB
  • NIPBL-Cornelia de Lange Syndrome
  • NLGN1-3q26.31
  • NLGN3-Xq13.1 – Susceptibility to autism and Asperger’s
  • NLGN4X- Xp22.32-22.31- X-Linked Intellectual Disability Susceptibility to Autism.
  • NOS1AP-1q23.3
  • NRXN1-2p16.3-Autosomal Recessive Intellectual Disabilities; Pitt- Hopkins
  • NRXN2-11q13.1
  • NSD1
  • OPHN1
  • PAK3
  • PCDH10-4q28.3
  • PCDH19-Xq22.1-Epilepsy and Intellectual disabilities limited to females.
  • PCDH9-13q21.32
  • PDZD4-Xq22.1
  • PHIP
  • POGZ
  • PPP1R3F-Xp11.23
  • PTCHD1-Xp22.11-Susceptibility to Autism
  • PTEM
  • PTEN-10q23.31-PTEN Hamartoma Tumor Syndromes
  • PTPN11- Noonan Syndrome
  • RAB39B-Xq28
  • RAI1-Smith-Magenis Syndrome
  • RIMS3-1p34.2
  • RORB
  • RPL10-Xq28
  • SETBP1
  • SETD2
  • SETD5
  • SH3KBP1-Xp22.12
  • SHANK2-11q13.3-13.4-Susceptibility to Autism
  • SHANK3-22q13.33-Phelan McDermid Syndrome
  • SLC2A1-GLUT1 Deficiency
  • SLC6A8- Creatine Transporter Deficiency
  • SLC9A6- Christianson Syndrome
  • SLC9A9-3q24
  • SMC1A-Cornelia de Lange Syndrome
  • SYN1-Xp11.3-11.23
  • TANC2
  • TBR1
  • TCF4-Pitt-Hopkins Syndrome
  • TCF12
  • TCF20
  • TCF7L2
  • TRIP12
  • TSC1-Tuberous Sclerosis
  • TSC2-Tuberous Sclerosis
  • TSPAN7-Xp11.4
  • UBE2A
  • UBE3A- Angelman Syndrome
  • UPF3B
  • VAMP2
  • WASF1
  • WDFY3
  • WNK3-Xp11.22
  • YY1
  • ZDHHC9
  • ZEB2-Mowat-Wilson Syndrome
  • ZMIZ1
  • ZNF292
  • ZNF4- X-linked Intellectual Disability
  • ZSWIM6
  • 16p11.2 Deletion
  • 15q11.2-Prader-Will Syndrome, Angelman Syndrome

Sources: Blueprint Genetics, Ambry Genetics, NCBI, Evicore, Prevention Genetics

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