ACTG2-Related Disorders
type: Class
IAO_0000115: ACTG2-related disorders are a subset of visceral myopathy with variable involvement of the bladder and intestine. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Chronic bladder dysfunction carries a high risk for urinary tract infections, dilation of the upper urinary tract, and impaired renal function. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystic microcolon intestinal hypoperistalsis syndrome (MMIHS), and chronic intestinal pseudoobstruction (CIPO) in neonates, children, and adults. Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK299311]
has exact synonym: actg2-dis
subclass of: DOID 4

Baraitser-Winter Cerebrofrontofacial Syndrome
type: Class
has exact synonym: baraitser-winter
subclass of: DOID 4

Progressive Pseudorheumatoid Dysplasia
type: Class
has exact synonym: ppr-dysp
subclass of: DOID 4

7q11.23 Duplication Syndrome
type: Class
has exact synonym: dup7q11_23
subclass of: DOID 4

CHD2-Related Neurodevelopmental Disorders
type: Class
has exact synonym: chd2-dis
subclass of: DOID 4

Action Myoclonus - Renal Failure Syndrome
type: Class
has exact synonym: amrf
subclass of: DOID 4

DYRK1A-Related Intellectual Disability Syndrome
type: Class
has exact synonym: dyrk1a-id
subclass of: DOID 4

Hereditary Fructose Intolerance
type: Class
has exact synonym: hfi
subclass of: DOID 4

Autosomal Dominant Leukodystrophy with Autonomic Disease
type: Class
has exact synonym: lad-ad
subclass of: DOID 4

Lipoid Proteinosis
type: Class
has exact synonym: lipoid-p
subclass of: DOID 4

LTBP4-Related Cutis Laxa
type: Class
has exact synonym: ltbp4-cutis-laxa
subclass of: DOID 4

17q12 Recurrent Duplication
type: Class
has exact synonym: dup17q12
subclass of: DOID 4

Kindler Syndrome
type: Class
has exact synonym: kindler
subclass of: DOID 4

Hartsfield Syndrome
type: Class
has exact synonym: hartsfield
subclass of: DOID 4

Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
type: Class
has exact synonym: xq28-dup
subclass of: DOID 4

Tubulinopathies Overview
type: Class
has exact synonym: tubulin-ov
subclass of: DOID 4

ADNP-Related Intellectual Disability and Autism Spectrum Disorder
type: Class
has exact synonym: adnp-dis
subclass of: DOID 4

Adams-Oliver Syndrome
type: Class
has exact synonym: adams-oliver
subclass of: DOID 4

15q Duplication Syndrome and Related Disorders
type: Class
has exact synonym: dup15q
subclass of: DOID 4

FOXP2-Related Speech and Language Disorders
type: Class
has exact synonym: foxp2-sl-dis
subclass of: DOID 4

Nephronophthisis
type: Class
has exact synonym: nephron-ov
subclass of: DOID 4

Lateral Meningocele Syndrome
type: Class
has exact synonym: lms
subclass of: DOID 4

Burn-McKeown Syndrome
type: Class
has exact synonym: burn-mckeown
subclass of: DOID 4

Multicentric Osteolysis Nodulosis and Arthropathy
type: Class
has exact synonym: mona
subclass of: DOID 4

Woodhouse-Sakati Syndrome
type: Class
has exact synonym: wss
subclass of: DOID 4

SCN8A-Related Epilepsy with Encephalopathy
type: Class
has exact synonym: scn8a-ee
subclass of: DOID 4

3q29 Recurrent Deletion
type: Class
has exact synonym: mdel3q29
subclass of: DOID 4

DEPDC5-Related Epilepsy
type: Class
has exact synonym: depdc5-epilepsy
subclass of: DOID 4

GRIN2A-Related Speech Disorders and Epilepsy
type: Class
has exact synonym: grin2a-dis
subclass of: DOID 4

Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
type: Class
has exact synonym: hfpoik-tmp
subclass of: DOID 4

BAP1 Tumor Predisposition Syndrome
type: Class
has exact synonym: bap1-tpds
subclass of: DOID 4

Kaufman Oculocerebrofacial Syndrome
type: Class
has exact synonym: kos
subclass of: DOID 4

MBD5 Haploinsufficiency
type: Class
has exact synonym: mbd5-dis
subclass of: DOID 4

TUBB4A-Related Leukodystrophy
type: Class
has exact synonym: tubb4a-leuk
subclass of: DOID 4

Primary Familial and Congenital Polycythemia
type: Class
has exact synonym: pfcp
subclass of: DOID 4

MPPH Syndrome
type: Class
has exact synonym: mpph
subclass of: DOID 4

CLPB Deficiency
type: Class
has exact synonym: clpb-def
subclass of: DOID 4

STXBP1 Encephalopathy with Epilepsy
type: Class
has exact synonym: stxbp1-ee
subclass of: DOID 4

17q12 Recurrent Deletion Syndrome
type: Class
has exact synonym: mdel17q12
subclass of: DOID 4

Primary Coenzyme Q10 Deficiency
type: Class
has exact synonym: coq10-def
subclass of: DOID 4

Beta-Propeller Protein-Associated Neurodegeneration
type: Class
has exact synonym: bpan
subclass of: DOID 4

KCNK9 Imprinting Syndrome
type: Class
has exact synonym: kcnk9-is
subclass of: DOID 4

SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
type: Class
has exact synonym: suclg1-mtddepl
subclass of: DOID 4

FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
type: Class
has exact synonym: fbxl4-mtddepl
subclass of: DOID 4

Myhre Syndrome
type: Class
has exact synonym: myhre
subclass of: DOID 4

Trichorhinophalangeal Syndrome
type: Class
has exact synonym: tps
subclass of: DOID 4

PURA-Related Neurodevelopmental Disorders
type: Class
has exact synonym: pura-dis
subclass of: DOID 4

SLC39A14 Deficiency
type: Class
has exact synonym: slc39a14-def
subclass of: DOID 4

SAMD9L-Related Ataxia-Pancytopenia Syndrome
type: Class
has exact synonym: samd9l-ap
subclass of: DOID 4

SLC6A3-Related Dopamine Transported Deficiency Syndrome
type: Class
has exact synonym: slc6a3-dtds
subclass of: DOID 4

Complete Plasminogen Activator Inhibitor 1 Deficiency
type: Class
has exact synonym: pai-1-def
subclass of: DOID 4

TRIO-Related Intellectual Disability
type: Class
has exact synonym: trio-id
subclass of: DOID 4

VPS35-Related Parkinson Disease
type: Class
has exact synonym: vps35-pd
subclass of: DOID 4

Potocki-Lupski Syndrome
type: Class
has exact synonym: potocki-lupski
subclass of: DOID 4

Ethylmalonic Encephalopathy
type: Class
has exact synonym: ee
subclass of: DOID 4

Isolated Sulfite Oxidase Deficiency
type: Class
has exact synonym: iso-def
subclass of: DOID 4

UNC80 Deficiency
type: Class
has exact synonym: unc80-def
subclass of: DOID 4

SATB2-Associated Syndrome
type: Class
has exact synonym: satb2-dis
subclass of: DOID 4

Disorders of GNAS Inactivation
type: Class
has exact synonym: gnas-dis
subclass of: DOID 4

Poikiloderma with Neutropenia
type: Class
has exact synonym: poikiloderma-n
subclass of: DOID 4

WAC-Related Intellectual Disability
type: Class
has exact synonym: wac-id
subclass of: DOID 4

GLYT1 Encephalopathy
type: Class
has exact synonym: glyt1-dis
subclass of: DOID 4

Rhabdoid Tumor Predisposition Syndrome
type: Class
has exact synonym: rtps
subclass of: DOID 4

Pelizaeus-Merzbacher-Like Disease 1
type: Class
has exact synonym: pmld1
subclass of: DOID 4

RAB18 Deficiency
type: Class
has exact synonym: rab18-def
subclass of: DOID 4

Christianson Syndrome
type: Class
has exact synonym: christianson
subclass of: DOID 4

Trichohepatoenteric Syndrome
type: Class
has exact synonym: sd-thes
subclass of: DOID 4

PRRT2-Associated Paroxysmal Movement Disorders
type: Class
has exact synonym: prrt2-parox
subclass of: DOID 4

TANGO2-Related Metabolic Encephalopathy and Arrhythmias
type: Class
has exact synonym: tango2-mea
subclass of: DOID 4

INSR-Related Severe Syndromic Insulin Resistance
type: Class
has exact synonym: insr-ir
subclass of: DOID 4

X-Linked Acrogigantism
type: Class
has exact synonym: x-ag
subclass of: DOID 4

Hyperphosphatemic Familial Tumoral Calcinosis
type: Class
has exact synonym: hyper-ftc
subclass of: DOID 4

Congenital Insensitivity to Pain Overview
type: Class
has exact synonym: cip-overview
subclass of: DOID 4

NGLY1-Related Congenital Disorder of Deglycosylation
type: Class
has exact synonym: ngly1-cddg
subclass of: DOID 4

Bohring-Optiz Syndrome
type: Class
has exact synonym: bohring-opitz
subclass of: DOID 4

ISCA2-Related Mitochondrial Disorder
type: Class
has exact synonym: isca2-mt-dis
subclass of: DOID 4

Mitochondrial DNA Maintenance Defects Overview
type: Class
has exact synonym: mtdna-md-ov
subclass of: DOID 4

Schwannomatosis
type: Class
has exact synonym: schwann
subclass of: DOID 4

KBG Syndrome
type: Class
has exact synonym: kbgs
subclass of: DOID 4

ASAH1-Related Disorders
type: Class
has exact synonym: asah1
subclass of: DOID 4

KMT2B-Related Dystonia
type: Class
has exact synonym: kmt2b-dystonia
subclass of: DOID 4

Maturity-Onset Diabetes of the Young Overview
type: Class
has exact synonym: mody-ov
subclass of: DOID 4

GRIN2B-Related Neurodevelopmental Disorder
type: Class
has exact synonym: grin2b
subclass of: DOID 4

ANKRD26-Related Thrombocytopenia
type: Class
has exact synonym: ankrd26
subclass of: DOID 4

Asparagine Synthetase Deficiency
type: Class
has exact synonym: as-def
subclass of: DOID 4

KCNT1-Related Epilepsy
type: Class
has exact synonym: kcnt1-epilepsy
subclass of: DOID 4

NKX6-2-Related Disorder
type: Class
has exact synonym: nkx6-2-spax
subclass of: DOID 4

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
type: Class
has exact synonym: lca-ov
subclass of: DOID 4

Abetalipoproteinemia
type: Class
has exact synonym: ab-lipo-p
subclass of: DOID 4

AP-4-Associated Hereditary Spastic Paraplegia
type: Class
has exact synonym: ap4-def
subclass of: DOID 4

DYT-GNAL
type: Class
has exact synonym: gnal-dystonia
subclass of: DOID 4

PPP2R5D-Related Neurodevelopmental Disorder
type: Class
has exact synonym: ppp2r5d-dis
subclass of: DOID 4

CDK13-Related Disorder
type: Class
has exact synonym: cdk13-dis
subclass of: DOID 4