ACLS
MCID: ACR008
MIFTS: 68

Acrocallosal Syndrome (ACLS)

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

Aliases & Classifications for Acrocallosal Syndrome

MalaCards integrated aliases for Acrocallosal Syndrome:

Name: Acrocallosal Syndrome 56 12 52 25 58 73 36 13 54 43 15 71
Acrocallosal Syndrome, Schinzel Type 74 52 29 6 71
Schinzel Acrocallosal Syndrome 56 12 52 25 73
Joubert Syndrome 12 56 73 29 6 71
Acls 56 12 52 25 73
Schinzel Syndrome 1 12 52 25
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum 56 25
Acs 52 58
Absence of Corpus Callosum with Unusual Facial Appearance, Mental Deficiency, Duplication of the Halluces and Polydactyly 52
Hallux Duplication Postaxial Polydactyly and Absence of Corpus Callosum 73
Acrocallosal Syndrome; 39
Jbts12 73

Characteristics:

Orphanet epidemiological data:

58
acrocallosal syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype



Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Acrocallosal Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 36 Definition A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Epidemiology The prevalence is not known but fewer than 50 cases of ACS have been published since the first description in 1979. Clinical description In ACS, craniofacial anomalies include macrocephaly with protruding forehead and occiput, hypertelorism, large anterior fontanel, short mandible and nose with anteverted nostrils and broad nasal bridge. Cases of anencephaly were observed, as well as, in other infants, an extra bone within the anterior fontanel, a calvarian defect or a Dandy-Walker malformation (see this term). CC hypoplasia or agenesis is the main distinctive feature of ACS. It may be associated with arachnoidal cysts in about one third of cases and with various other brain abnormalities (medulla oblongata, temporal lobe or pons hypoplasia, micropolygyria and hypoplasia or agenesis of cerebellar vermis). Distal anomalies of limbs include preaxial or postaxial polydactyly or polysyndactyly of toes and/or hands. The large majority of ACS patients have intellectual deficit that is severe in 80% of cases, and substantial psychomotor retardation. Additional malformations have been described occasionally: short philtrum/upper lip, high-arched palate, cleft lip /palate, heart defects, hypospadias and inguinal and umbilical hernias. Etiology Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for ACS. Both genes are involved in the ciliary Sonic Hedgehog pathway and their mutation most likely influences the early development of midline structures during embryogenesis. Diagnostic methods Diagnosis is based on physical examination and, given the high variability of phenotypes , a consensus on minimal diagnostic criteria has been established, with 3 of the 4 following criteria being necessary to suspect the ACS diagnosis: (1) total or partial absence of the CC, (2) minor craniofacial anomalies, (3) moderate to severe psychomotor retardation with hypotonia and (4) polydactyly. Differential diagnosis Differential diagnosis includes Greig cephalopolysyndactyly, oral-facial-digital I and II, Meckel-Gruber, Smith-Lemli-Opitz, Rubinstein-Taybi, cerebrooculofacioskeletal, Aicardi, Neu-Laxova, pseudotrisomy 13, Toriello-Carey, otopalatodigital II and Da Silva syndromes (see these terms). Antenatal diagnosis Antenatal diagnosis is based on ultrasonography examination from the 20th week of gestation and magnetic resonance imaging (MRI) of the fetus. Genetic counseling ACS is an autosomal recessive disease. There is therefore a 25% recurrence risk for a subsequent pregnancy. If the gene mutation in the kinesin/transcriptional activator genes has been identified in an affected sibling, molecular genetic diagnosis can be offered after chorionic villus sampling. Management and treatment Surgical intervention may be considered for the polydactyly. Prognosis Prognosis depends on the severity of malformations and hypotonia, and on the occurrence of seizures . Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrocallosal Syndrome, also known as acrocallosal syndrome, schinzel type, is related to chromosome 2q35 duplication syndrome and greig cephalopolysyndactyly syndrome, and has symptoms including seizures An important gene associated with Acrocallosal Syndrome is KIF7 (Kinesin Family Member 7), and among its related pathways/superpathways are Hedgehog signaling pathway and Signaling by Hedgehog. The drugs Diltiazem and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and bone, and related phenotypes are aplasia/hypoplasia of the corpus callosum and macrocephaly

Disease Ontology : 12 A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.

Genetics Home Reference : 25 Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals. Agenesis of the corpus callosum occurs when the tissue that connects the left and right halves of the brain (the corpus callosum) fails to form normally during the early stages of development before birth. Other brain abnormalities, including the growth of large cysts in brain tissue, have also been reported in people with acrocallosal syndrome. The changes in brain structure associated with this condition lead to delayed development and intellectual disability, which is most often moderate to severe. Some affected individuals also experience seizures. Extra fingers and toes are common in people with acrocallosal syndrome. The extra digits can be on the same side of the hand or foot as the pinky or little toe (postaxial polydactyly) or on the same side as the thumb or great toe (preaxial polydactyly). Some affected individuals also have webbed or fused skin between the fingers or toes (syndactyly). Distinctive facial features that can occur with acrocallosal syndrome include widely spaced eyes (hypertelorism) and a high, prominent forehead. Many affected individuals also have an unusually large head size (macrocephaly).

OMIM : 56 The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011). Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Hydrolethalus-2 (HLS2; 614120) is an allelic disorder with a more severe phenotype and death in utero. (200990)

KEGG : 36 Acrocallosal syndrome is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation.

UniProtKB/Swiss-Prot : 73 Acrocallosal syndrome: An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation.
Joubert syndrome 12: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Wikipedia : 74 Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by... more...

Related Diseases for Acrocallosal Syndrome

Diseases related to Acrocallosal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1009)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 31.1 SHH IHH GLI3
2 greig cephalopolysyndactyly syndrome 30.9 SUFU SHH KIF7 KIF27 IHH GLI3
3 pallister-hall syndrome 30.5 SHH KIF7 IHH GLI3
4 hirschsprung disease 1 30.4 SHH L1CAM IHH GLI3
5 basal cell carcinoma 30.1 SUFU SHH KIF7 IHH GLI3
6 hypermobility syndrome 29.7 LAX1 CTSC
7 angioedema induced by ace inhibitors 12.8
8 ritscher-schinzel syndrome 1 12.6
9 saethre-chotzen syndrome 11.8
10 pfeiffer syndrome 11.7
11 cutaneous lupus erythematosus 11.7
12 osteoarthritis 11.7
13 hydrolethalus syndrome 2 11.6
14 apert syndrome 11.5
15 farber lipogranulomatosis 11.5
16 lung cancer 11.5
17 fabry disease 11.5
18 fainting 11.5
19 auriculo-condylar syndrome 11.4
20 spondylometaepiphyseal dysplasia, short limb-hand type 11.3
21 auriculocondylar syndrome 1 11.2
22 angioedema, hereditary, type i 11.1
23 glomerulopathy with fibronectin deposits 2 11.1
24 angular cheilitis 11.1
25 microvascular complications of diabetes 3 10.8
26 microvascular complications of diabetes 4 10.7
27 microvascular complications of diabetes 6 10.7
28 microvascular complications of diabetes 7 10.7
29 polydactyly 10.7
30 kidney disease 10.7
31 angioedema 10.7
32 hypertension, essential 10.7
33 cardiac arrest 10.6
34 coronary artery anomaly 10.6
35 sarcoidosis 1 10.6
36 coronary heart disease 1 10.5
37 end stage renal failure 10.5
38 intermediate coronary syndrome 10.5
39 chronic kidney disease 10.5
40 acute myocardial infarction 10.5
41 polydactyly, postaxial, type a1 10.5
42 hyperlipoproteinemia, type iii 10.5
43 melanotic medulloblastoma 10.5 SUFU SHH
44 arteries, anomalies of 10.5
45 medullomyoblastoma 10.5 SUFU SHH
46 hypertelorism 10.5
47 nodular medulloblastoma 10.4 SUFU SHH
48 septic arthritis 10.4
49 bone development disease 10.4 SHH IHH GLI3
50 vascular disease 10.4

Graphical network of the top 20 diseases related to Acrocallosal Syndrome:



Diseases related to Acrocallosal Syndrome

Symptoms & Phenotypes for Acrocallosal Syndrome

Human phenotypes related to Acrocallosal Syndrome:

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the corpus callosum 58 31 obligate (100%) Very frequent (99-80%) HP:0007370
2 macrocephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000256
3 hypertelorism 58 31 very rare (1%) Very frequent (99-80%) HP:0000316
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
6 preaxial hand polydactyly 31 hallmark (90%) HP:0001177
7 postaxial foot polydactyly 31 hallmark (90%) HP:0001830
8 preaxial foot polydactyly 31 hallmark (90%) HP:0001841
9 duplication of thumb phalanx 31 hallmark (90%) HP:0009942
10 duplication of phalanx of hallux 31 hallmark (90%) HP:0010066
11 inguinal hernia 58 31 frequent (33%) Occasional (29-5%) HP:0000023
12 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
13 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
14 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
15 wide anterior fontanel 58 31 frequent (33%) Occasional (29-5%) HP:0000260
16 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
17 finger syndactyly 31 frequent (33%) HP:0006101
18 failure to thrive 31 frequent (33%) HP:0001508
19 umbilical hernia 31 frequent (33%) HP:0001537
20 short nose 31 frequent (33%) HP:0003196
21 downslanted palpebral fissures 31 frequent (33%) HP:0000494
22 epicanthus 31 frequent (33%) HP:0000286
23 growth delay 31 frequent (33%) HP:0001510
24 broad forehead 31 frequent (33%) HP:0000337
25 preauricular skin tag 31 frequent (33%) HP:0000384
26 toe syndactyly 31 frequent (33%) HP:0001770
27 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
28 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
29 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
30 hypospadias 58 31 very rare (1%) Occasional (29-5%) HP:0000047
31 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
32 tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098
33 abnormality of the clavicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0000889
34 nystagmus 31 occasional (7.5%) HP:0000639
35 hearing impairment 31 occasional (7.5%) HP:0000365
36 optic atrophy 31 occasional (7.5%) HP:0000648
37 strabismus 31 occasional (7.5%) HP:0000486
38 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
39 micropenis 31 occasional (7.5%) HP:0000054
40 tapered finger 31 occasional (7.5%) HP:0001182
41 coloboma 31 occasional (7.5%) HP:0000589
42 frontal bossing 31 very rare (1%) HP:0002007
43 intellectual disability 31 very rare (1%) HP:0001249
44 seizures 31 very rare (1%) HP:0001250
45 high palate 31 very rare (1%) HP:0000218
46 wide nasal bridge 31 very rare (1%) HP:0000431
47 smooth philtrum 31 very rare (1%) HP:0000319
48 cleft palate 31 very rare (1%) HP:0000175
49 long philtrum 31 very rare (1%) HP:0000343
50 open mouth 31 very rare (1%) HP:0000194

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
prominent occiput
large anterior fontanel

Neurologic Central Nervous System:
seizures
hypotonia
severe mental retardation
hypoplastic or absent corpus callosum
molar tooth sign on brain mri (subset of patients)

Abdomen External Features:
umbilical hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
cleft palate
cleft lip
triangular mouth
high-arched palate
protruding lips

Head And Neck Ears:
posteriorly rotated ears
malformed ears
preauricular tag
deep-set ears

Genitourinary Internal Genitalia Female:
rectovaginal fistula

Cardiovascular Heart:
pulmonary valve defects
septal defects

Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
strabismus
downslanting palpebral fissures
more
Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
micropenis

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
tapered fingers
preaxial or postaxial polydactyly
bifid terminal phalanges of thumbs

Head And Neck Face:
prominent forehead
short philtrum
hypoplastic midface

Growth Other:
postnatal growth retardation

Abdomen Gastrointestinal:
rectovaginal fistula
imperforate anus

Skeletal Feet:
toe syndactyly
duplicated halluces
preaxial or postaxial polydactyly

Head And Neck Nose:
broad nasal bridge
small nose

Clinical features from OMIM:

200990

UMLS symptoms related to Acrocallosal Syndrome:


seizures

MGI Mouse Phenotypes related to Acrocallosal Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.92 BGN GLI3 IHH KIF27 KIF7 L1CAM
2 integument MP:0010771 9.86 BGN CTSC GLI3 L1CAM SHH SUFU
3 mortality/aging MP:0010768 9.77 ACLY APOH BGN CEP57L1 GLI3 HYLS1
4 limbs/digits/tail MP:0005371 9.7 BGN GLI3 HYLS1 IHH KIF7 SHH
5 skeleton MP:0005390 9.32 BGN GLI3 HYLS1 IHH KIF7 L1CAM

Drugs & Therapeutics for Acrocallosal Syndrome

Drugs for Acrocallosal Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
2
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
3
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
4 Anti-Arrhythmia Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Autonomic Agents Phase 4
7 Adrenergic Agents Phase 4
8 Hormones Phase 4
9 calcium channel blockers Phase 4
10 Calcium, Dietary Phase 4
11 Antihypertensive Agents Phase 4
12 Adrenergic Antagonists Phase 4
13 Adrenergic beta-1 Receptor Antagonists Phase 4
14 Adrenergic beta-Antagonists Phase 4
15 Vasodilator Agents Phase 4
16 Sympatholytics Phase 4
17
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
18
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
19
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
20
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
21
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
22
Enoxaparin Approved Phase 3 9005-49-6 772
23
Tenecteplase Approved Phase 3 191588-94-0
24 Analgesics Phase 3
25 Anesthetics Phase 2, Phase 3
26 Anesthetics, Local Phase 2, Phase 3
27 Sodium Channel Blockers Phase 2, Phase 3
28 Central Nervous System Depressants Phase 3
29 Diuretics, Potassium Sparing Phase 2, Phase 3
30 Cholinergic Agents Phase 2, Phase 3
31 Tocolytic Agents Phase 3
32 Anticonvulsants Phase 3
33 Antiemetics Phase 2, Phase 3
34 Gastrointestinal Agents Phase 2, Phase 3
35 HIV Protease Inhibitors Phase 2, Phase 3
36
protease inhibitors Phase 2, Phase 3
37 BB 1101 Phase 2, Phase 3
38 Hormone Antagonists Phase 2, Phase 3
39 Anti-Inflammatory Agents Phase 2, Phase 3
40 Antineoplastic Agents, Hormonal Phase 2, Phase 3
41 glucocorticoids Phase 2, Phase 3
42 Cholinesterase Inhibitors Phase 2, Phase 3
43 Fibrinolytic Agents Phase 3
44
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
45
Cocaine Approved, Illicit Phase 1 50-36-2 5760 446220
46
Doxazosin Approved Phase 1 74191-85-8 3157
47
Modafinil Approved, Investigational Phase 1 68693-11-8 4236
48 Dopamine Uptake Inhibitors Phase 1
49 Adrenergic alpha-Antagonists Phase 1
50 Dopamine Agents Phase 1

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Hyperinvasive Approach to out-of Hospital Cardiac Arrest Using Mechanical Chest Compression Device, Prehospital Intraarrest Cooling, Extracorporeal Life Support and Early Invasive Assessment Compared to Standard of Care. A Randomized Parallel Groups Comparative Study. "Prague OHCA Study" Unknown status NCT01511666 Phase 4
2 DiME Study: Comparison of Diltiazem and Metoprolol in the Management of Acute Atrial Fibrillation or Atrial Flutter With Rapid Ventricular Response: A Prospective Randomized and Double-Blinded Non-Inferiority Trial of Safety and Efficacy Completed NCT01914926 Phase 4 Metoprolol;Diltiazem
3 Low Versus High Dose Magnesium Sulfate in the Early Management of Rapid Atrial Fibrillation : Randomised Controlled Double Blind Study (LOMAGHI Study) Completed NCT00965874 Phase 3 Magnesium Sulfate high dose;Magnesium Sulfate low dose;Placebos
4 Efficacy of Neostigmine Versus Dexamethasone as Adjuvants to Lidocaine During Intravenous Local Anesthesia for Forearm Orthopedic Surgeries Completed NCT03021772 Phase 2, Phase 3 Neostigmine;Dexamethasone
5 General Surgery Residents Education in Maximum Barrier Precautions During Central Venous Catheter Placement: Effect of Simulation-Based Training Completed NCT00787345 Phase 3
6 Randomized Clinical Trial of Sodium Nitrite for Out of Hospital Cardiac Arrest Recruiting NCT03452917 Phase 2, Phase 3 Placebo;sodium nitrite 45 mg;sodium nitrite 60 mg
7 Randomized Trial of Tenecteplase to Treat Severe Submassive Pulmonary Embolism Terminated NCT00680628 Phase 3 Tenecteplase + Enoxaparin;0.9% Saline + Enoxaparin
8 Intraosseous Administration of Hypertonic Saline in Acute Brain-injured Patients: A Prospective Case Series and Literature Review Completed NCT03276494 Phase 2 Hypertonic saline
9 Advanced REperfusion STrategies for Refractory Cardiac Arrest (The ARREST Trial) Recruiting NCT03880565 Phase 2
10 Complementary Combination Therapy for Cocaine Dependence Unknown status NCT02538744 Phase 1 Doxazosin;Modafinil;cocaine;Placebo
11 Effectiveness of Human Simulation Training for Medical Crisis Management Skills Withdrawn NCT00425295 Phase 1
12 Analgesic Efficacy of Saphenous Nerve Blockade for Outpatient Knee Anterior Cruciate Ligament Surgery Unknown status NCT02071433
13 A Prospective, Randomized, Double-Blind, Multicenter Clinical Trial to Evaluate the Safety and Efficacy of the Z-Lig Medical Device Compared to Allograft for the Reconstruction of Ruptured Anterior Cruciate Ligaments Unknown status NCT01245400
14 The Effect of Chest Compression and Ventilation Coordination During Cardiopulmonary Resuscitation Unknown status NCT02056509
15 Safety and Feasibility of Endovascular Cooling Device in Patients With Hypothermic Cardiopulmonary Resuscitation Unknown status NCT00154674
16 Comparison of Vitamin B12 Supplementation and SSRI to SSRI Monotherapy in Treating Depression With Low Normal B12: A Randomized Open Label trialComparison of Vitamin B12 Supplementation to SSRI Versus SSRI Antidepressant Treatment Alone Unknown status NCT00939718
17 Can Bedside Ultrasonographic Measurements of Optic Nerve Sheath Diameter Following the Return of Spontaneous Circulation Predict Negative Neurological Outcome in Out of Hospital Cardiac Arrest Patients? Unknown status NCT02637258
18 Use of High Fidelity Simulation in Cardiac-specific Anesthesia Scenarios for Resident Education and Assessment Unknown status NCT02498964
19 Does Instruction on Cognitive Aid Use Improve Performance and Retention of Skills? A Simulation Based Randomized Controlled Trial Completed NCT01646372
20 Interprofessional Advanced Cardiac Life Support Training on Collaborative Skills, Self-Efficacy And Emotion Regulation: A Prospective Interventional Trial Completed NCT03979092
21 Assessing Respiratory Rate and Tidal Volume Delivery During Manual Ventilation Completed NCT03544164
22 Visual Perception Exploration Using Eye-tracking Technology in High-fidelity Medical Simulation Completed NCT03049098
23 HYPGENE-Genetics Fitness Obesity & Risk of Hypertension Completed NCT00083811
24 REASON 1 Trial: Sonography in Cardiac Arrest Completed NCT01446471
25 Basic Life Support Termination of Resuscitation in the Prehospital Environment for Primary Care Paramedics - A Prospective Observational Study of the Implementation of a Clinical Prediction Rule Completed NCT00370461
26 Influences of DNAR Order Prohibition on Hospital Discharged Ratios and Neurological Outcomes at Discharge Completed NCT02585050
27 High Fidelity Simulation In Medecine Education Completed NCT02483546
28 Early Diagnosis of Diastolic Dysfunction and Reliability of Dobutamine Stress Echo (DSE) in Detecting Stress Diastolic Dysfunction Completed NCT00998205 Dobutamine stress echo (DSE);Atropine bolus
29 Safety of Clinically Indicated Magnetic Resonance Imaging in Patients With Permanent Pacemakers (PPM) and Implanted Cardioverter Defibrillators Completed NCT02227004
30 Intraosseous Versus Intravenous Vascular Access During Cardiac Arrest Completed NCT01119807
31 A Single Institution Registry Trial Evaluating the Safety of MRI for Patients With Non-MRI Conditional Pacemakers and ICD Completed NCT02318550
32 Emergency Medicine Residents Performance in Maximum Barrier Precautions During Central Venous Catheter Placement: Effect of Stimulation-based Training Completed NCT00791583
33 Medical Residents Performance in Maximum Barrier Precautions During Central Venous Catheter Placement: Effect of Simulation-Based Training Completed NCT00612131
34 The Benefits of a Simplified Method for CPR Training of Medical Professionals: A Randomized Controlled Study Completed NCT01361919
35 Echocardiographic Surveillance of Patients Undergoing Scheduled Endoscopic Retrograde Cholangiopancreatography for the Presence of Intracardiac Air Embolus Completed NCT01535248
36 Study to Assess if Ability to Ascend and Descend Stairs Within 30 Seconds Will Prove to be a Reliable and Valid Outcome Measure in Individuals With Pulmonary Disease Completed NCT01835886
37 Resuscitative Balloon Occlusion of the Aorta (REBOA) in Non-traumatic Out of Hospital Cardiac Arrest - a Pilot Study Recruiting NCT03534011
38 Crisis Resource Management Improvement Through Intellectual Questioning of Authority Recruiting NCT03707964
39 Emergency Cardiopulmonary Bypass After Cardiac Arrest With Ongoing Cardiopulmonary Resuscitation - a Pilot Randomized Trial Recruiting NCT01605409
40 Percutaneous Left Stellate Ganglion Block In Out-of-hospital Cardiac Arrest Due to Refractory VEntricular Arrhythmias Recruiting NCT04168970
41 (RHAPSody) Diagnostic Utility of the Rapid Ultrasound for Shock and Hypotension (RUSH) Exam Following Return of Spontaneous Circulation (ROSC) in Cardiac Arrest Recruiting NCT03409289
42 The Development and Evaluation of the Efficacy for Echo-assisted Advanced Life Support Advanced Life Support (eALS) Recruiting NCT04148794
43 VAPORHCS/OHSU J: Safety of Clinically Indicated Magnetic Resonance Imaging in Patients With Permanent Pacemakers (PPM) and Implanted Cardioverter Defibrillators (ICDs) Recruiting NCT03915015
44 Impact of Unexpected Death in Simulation: Skill Retention, Stress and Emotions Active, not recruiting NCT03441425
45 Extracorporeal CPR for Refractory Out-of-Hospital Cardiac Arrest (EROCA) Enrolling by invitation NCT03065647
46 An Expanded Evaluation of the Safety of Clinically Indicated Magnetic Resonance Imaging (MRI) in Patients With Pacemakers and Implanted Cardioverter Defibrillators Enrolling by invitation NCT02888353
47 In Hospital Maternal Cardiac Arrests: Highlighting the Importance of the First 5 Minutes. Not yet recruiting NCT04050631
48 The Predictive Value of Prehospital Blood Lactate Measurement Following Out of Hospital Cardiac Arrest (OHCA) and Return of Spontaneous Circulation (ROSC). Withdrawn NCT02352350
49 Cardiac Implantable Electronic Device Magnetic Resonance Imaging Registry (CIED-MRI Registry) Withdrawn NCT02459379

Search NIH Clinical Center for Acrocallosal Syndrome

Cochrane evidence based reviews: acrocallosal syndrome

Genetic Tests for Acrocallosal Syndrome

Genetic tests related to Acrocallosal Syndrome:

# Genetic test Affiliating Genes
1 Acrocallosal Syndrome, Schinzel Type 29 KIF7
2 Joubert Syndrome 12 29

Anatomical Context for Acrocallosal Syndrome

MalaCards organs/tissues related to Acrocallosal Syndrome:

40
Brain, Heart, Bone, Skin, Kidney, Eye, Temporal Lobe

Publications for Acrocallosal Syndrome

Articles related to Acrocallosal Syndrome:

(show top 50) (show all 1126)
# Title Authors PMID Year
1
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 56 6
22246503 2012
2
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 56 6
21633164 2011
3
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 56 6
21552264 2011
4
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 54 61 56
12414818 2002
5
The Greig cephalopolysyndactyly syndrome. 61 56
18435847 2008
6
An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. 61 56
18618999 2008
7
Spectrum of the acrocallosal syndrome. 61 56
11857542 2002
8
Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome. 61 56
8723075 1996
9
Acrocallosal syndrome in two African brothers born to consanguineous parents. 61 56
8092201 1994
10
The acrocallosal syndrome and Greig syndrome are not allelic disorders. 61 56
1404293 1992
11
A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. 61 56
1499582 1992
12
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. 61 56
1610119 1992
13
Further delineation of the acrocallosal syndrome. 61 56
1659985 1991
14
Acrocallosal syndrome: a new case. 61 56
1887856 1991
15
The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. 61 56
2051463 1991
16
How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. 61 56
2103730 1990
17
Acrocallosal syndrome. 61 56
2309796 1990
18
The acrocallosal syndrome in a Turkish boy. 61 56
2308155 1990
19
Hypogenitalism in the acrocallosal syndrome. 61 56
2658583 1989
20
Acrocallosal syndrome: additional manifestations. 61 56
2658584 1989
21
Acrocallosal syndrome in a girl born to consanguineous parents. 61 56
2729348 1989
22
Acrocallosal syndrome: new findings. 61 56
2729349 1989
23
The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance. 61 56
3385741 1988
24
The acrocallosal syndrome. 61 56
3366141 1988
25
The acrocallosal syndrome in sisters. 61 56
3802558 1986
26
Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? 61 56
3879437 1985
27
The acrocallosal syndrome. 61 56
7102724 1982
28
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
29
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
30
Joubert Syndrome 6
20301500 2003
31
Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. 56
7424976 1980
32
Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? 56
457430 1979
33
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. 54 61
18154020 2007
34
aCLS cancers: Genomic and epigenetic changes transform the cell of origin of cancer into a tumorigenic pathogen of unicellular organization and lifestyle. 61
31647999 2020
35
Impact of Sex on Survival and Neurologic Outcomes in Adults With In-Hospital Cardiac Arrest. 61
31791546 2020
36
Intravenous versus intraosseous adrenaline administration in out-of-hospital cardiac arrest: A retrospective cohort study. 61
31982506 2020
37
Over the top anterior cruciate ligament reconstruction in patients with open physes: a long-term follow-up study. 61
31993711 2020
38
The Effect of Oral Contraceptive Hormones on Anterior Cruciate Ligament Strength. 61
31765227 2020
39
Cells from a GDF5 origin produce zonal tendon-to-bone attachments following anterior cruciate ligament reconstruction. 61
31596513 2020
40
An Initiative Using Simulation to Aid in Retention of Advanced Cardiac Life Support Knowledge and Skills in an Emergency Department Nurse Residency Program. 61
31789983 2020
41
Association between antiphospholipid antibodies and factor Bb in lupus nephritis patients with glomerular microthrombosis. 61
31749332 2019
42
Characterization of human telomerase reverse transcriptase immortalized anterior cruciate ligament cell lines. 61
31948601 2019
43
Improving the position of resuscitation team leader with simulation (IMPORTS); a pilot cross-sectional randomized intervention study. 61
31804343 2019
44
Relationship between Femoral Intercondylar Notch Narrowing in Radiography and Anatomical and Histopathologic Integrity of Anterior Cruciate Ligament in Patients Undergoing Total Knee Replacement Surgery. 61
31970257 2019
45
Functional polymorphisms within the inflammatory pathway regulate expression of extracellular matrix components in a genetic risk dependent model for anterior cruciate ligament injuries. 61
31395468 2019
46
Graft Inclination Angles in Anterior Cruciate Ligament Reconstruction Vary Depending on Femoral Tunnel Reaming Method: Comparison Among Transtibial, Anteromedial Portal, and Outside-In Retrograde Drilling Techniques. 61
31791892 2019
47
Thoracic Epidural Blockade for Ventricular Tachycardia Storm in Patient with Takotsubo Cardiomyopathy. 61
31911746 2019
48
Loperamide induced cardiac arrhythmia successfully supported with veno-arterial ECMO (VA-ECMO), molecular adsorbent recirculating system (MARS) and continuous renal replacement therapy (CRRT). 61
30806091 2019
49
Side Variations of Anterior Cruciate Ligament Coronal Angles: Implications for ACL Reconstruction. 61
31444834 2019
50
Factors related to hospital utilisation for people living with schizophrenia: Examining Allen's Cognitive Level Scores, recommended supports and routinely collected variables. 61
31342528 2019

Variations for Acrocallosal Syndrome

ClinVar genetic disease variations for Acrocallosal Syndrome:

6 (show top 50) (show all 118) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF7 NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter)SNV Pathogenic 208593 rs797045093 15:90174893-90174893 15:89631662-89631662
2 KIF7 NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)SNV Pathogenic 217670 rs778139192 15:90172792-90172792 15:89629561-89629561
3 KIF7 NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter)SNV Pathogenic 217671 rs202229910 15:90174920-90174920 15:89631689-89631689
4 KIF7 NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)deletion Pathogenic 30895 rs752248403 15:90174940-90174941 15:89631709-89631710
5 KIF7 NM_198525.3(KIF7):c.460C>T (p.Arg154Ter)SNV Pathogenic 30896 rs387907044 15:90193041-90193041 15:89649810-89649810
6 KIF7 NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)SNV Pathogenic 30897 rs387907045 15:90174836-90174836 15:89631605-89631605
7 KIF7 NM_198525.3(KIF7):c.587dup (p.Glu197fs)duplication Pathogenic 30898 rs797044463 15:90192540-90192541 15:89649309-89649310
8 KIF7 NM_198525.3(KIF7):c.687del (p.Arg230fs)deletion Pathogenic 30899 rs797044464 15:90192441-90192441 15:89649210-89649210
9 KIF7 NM_198525.3(KIF7):c.217del (p.Ala73fs)deletion Pathogenic 30900 rs797044465 15:90195945-90195945 15:89652714-89652714
10 KIF7 NM_198525.3(KIF7):c.811del (p.Glu271fs)deletion Pathogenic 30901 rs797044466 15:90192317-90192317 15:89649086-89649086
11 KIF7 NM_198525.3(KIF7):c.2593-3C>GSNV Pathogenic 427889 rs774403667 15:90176500-90176500 15:89633269-89633269
12 KIF7 NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter)SNV Pathogenic 427891 rs1555424505 15:90188271-90188271 15:89645040-89645040
13 KIF7 NM_198525.3(KIF7):c.1643dup (p.Arg549fs)duplication Pathogenic 427890 rs1555424684 15:90190205-90190206 15:89646974-89646975
14 KIF7 NM_198525.3(KIF7):c.157C>T (p.Arg53Ter)SNV Pathogenic 463142 rs569323391 15:90196005-90196005 15:89652774-89652774
15 KIF7 NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)SNV Pathogenic 587434 rs1235928535 15:90196095-90196095 15:89652864-89652864
16 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
17 KIF7 NM_198525.3(KIF7):c.423_428del (p.His142_Val143del)deletion Likely pathogenic 427637 rs1555425036 15:90193073-90193078 15:89649842-89649847
18 KIF7 NM_198525.3(KIF7):c.3518-1G>CSNV Likely pathogenic 568940 rs1567057019 15:90172354-90172354 15:89629123-89629123
19 KIF7 NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)SNV Conflicting interpretations of pathogenicity 317350 rs147767277 15:90171923-90171923 15:89628692-89628692
20 KIF7 NM_198525.3(KIF7):c.3252C>T (p.Leu1084=)SNV Conflicting interpretations of pathogenicity 317351 rs77896636 15:90173584-90173584 15:89630353-89630353
21 KIF7 NM_198525.3(KIF7):c.2613G>A (p.Glu871=)SNV Conflicting interpretations of pathogenicity 317354 rs370595622 15:90176477-90176477 15:89633246-89633246
22 KIF7 NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)SNV Conflicting interpretations of pathogenicity 194572 rs138410949 15:90174856-90174856 15:89631625-89631625
23 KIF7 NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)SNV Conflicting interpretations of pathogenicity 194998 rs138993311 15:90171768-90171768 15:89628537-89628537
24 KIF7 NM_198525.3(KIF7):c.1266C>G (p.Leu422=)SNV Conflicting interpretations of pathogenicity 197900 rs8030837 15:90191663-90191663 15:89648432-89648432
25 KIF7 NM_198525.3(KIF7):c.3999G>C (p.Pro1333=)SNV Conflicting interpretations of pathogenicity 129417 rs137993810 15:90171683-90171683 15:89628452-89628452
26 KIF7 NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)SNV Conflicting interpretations of pathogenicity 263153 rs141028210 15:90171722-90171722 15:89628491-89628491
27 KIF7 NM_198525.3(KIF7):c.2192-13C>TSNV Conflicting interpretations of pathogenicity 263141 rs201251064 15:90185649-90185649 15:89642418-89642418
28 KIF7 NM_198525.3(KIF7):c.294A>G (p.Ser98=)SNV Conflicting interpretations of pathogenicity 263144 rs145049849 15:90195868-90195868 15:89652637-89652637
29 KIF7 NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)SNV Conflicting interpretations of pathogenicity 286941 rs138196132 15:90172609-90172609 15:89629378-89629378
30 KIF7 NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu)SNV Conflicting interpretations of pathogenicity 317364 rs565633539 15:90188361-90188361 15:89645130-89645130
31 KIF7 NM_198525.3(KIF7):c.1290C>T (p.Pro430=)SNV Conflicting interpretations of pathogenicity 317368 rs886051534 15:90191639-90191639 15:89648408-89648408
32 KIF7 NM_198525.3(KIF7):c.1296G>A (p.Leu432=)SNV Conflicting interpretations of pathogenicity 317367 rs886051533 15:90191633-90191633 15:89648402-89648402
33 KIF7 NM_198525.3(KIF7):c.960G>A (p.Thr320=)SNV Uncertain significance 317372 rs886051538 15:90191969-90191969 15:89648738-89648738
34 KIF7 NM_198525.3(KIF7):c.*191T>ASNV Uncertain significance 317344 rs559070002 15:90171459-90171459 15:89628228-89628228
35 KIF7 NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)SNV Uncertain significance 317349 rs886051529 15:90171725-90171725 15:89628494-89628494
36 KIF7 NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln)SNV Uncertain significance 317355 rs758378987 15:90177083-90177083 15:89633852-89633852
37 KIF7 NM_198525.3(KIF7):c.2341T>C (p.Ser781Pro)SNV Uncertain significance 317357 rs886051530 15:90185487-90185487 15:89642256-89642256
38 KIF7 NM_198525.3(KIF7):c.2337G>A (p.Glu779=)SNV Uncertain significance 317358 rs202089770 15:90185491-90185491 15:89642260-89642260
39 KIF7 NM_198525.3(KIF7):c.2322C>A (p.Leu774=)SNV Uncertain significance 317359 rs145339415 15:90185506-90185506 15:89642275-89642275
40 KIF7 NM_198525.3(KIF7):c.2235C>T (p.Ile745=)SNV Uncertain significance 317361 rs886051531 15:90185593-90185593 15:89642362-89642362
41 KIF7 NM_198525.3(KIF7):c.2079C>T (p.Val693=)SNV Uncertain significance 317362 rs113112856 15:90188356-90188356 15:89645125-89645125
42 KIF7 NM_198525.3(KIF7):c.1390A>G (p.Ile464Val)SNV Uncertain significance 317365 rs570856269 15:90191539-90191539 15:89648308-89648308
43 KIF7 NM_198525.3(KIF7):c.1218C>G (p.Gly406=)SNV Uncertain significance 317370 rs886051536 15:90191711-90191711 15:89648480-89648480
44 KIF7 NM_198525.3(KIF7):c.719C>T (p.Pro240Leu)SNV Uncertain significance 317375 rs886051539 15:90192409-90192409 15:89649178-89649178
45 KIF7 NM_198525.3(KIF7):c.643A>G (p.Ser215Gly)SNV Uncertain significance 317376 rs886051540 15:90192485-90192485 15:89649254-89649254
46 KIF7 NM_198525.3(KIF7):c.623C>T (p.Thr208Met)SNV Uncertain significance 317377 rs886051541 15:90192505-90192505 15:89649274-89649274
47 KIF7 NM_198525.3(KIF7):c.-75G>ASNV Uncertain significance 317384 rs886051545 15:90198680-90198680 15:89655449-89655449
48 KIF7 NM_198525.3(KIF7):c.1221C>T (p.Ala407=)SNV Uncertain significance 317369 rs886051535 15:90191708-90191708 15:89648477-89648477
49 KIF7 NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)SNV Uncertain significance 317373 rs756368261 15:90191977-90191977 15:89648746-89648746
50 KIF7 NM_198525.3(KIF7):c.418C>T (p.Leu140=)SNV Uncertain significance 317379 rs756117745 15:90193083-90193083 15:89649852-89649852

UniProtKB/Swiss-Prot genetic disease variations for Acrocallosal Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 KIF7 p.Arg702Gln VAR_066452 rs149078926

Copy number variations for Acrocallosal Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 225146 7 43300000 46600000 Copy number GLI3 Acrocallosal syndrome

Expression for Acrocallosal Syndrome

Search GEO for disease gene expression data for Acrocallosal Syndrome.

Pathways for Acrocallosal Syndrome

Pathways related to Acrocallosal Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Acrocallosal Syndrome

Cellular components related to Acrocallosal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.55 SUFU KIF7 KIF27 HYLS1 GLI3
2 collagen-containing extracellular matrix GO:0062023 9.35 SHH L1CAM CTSC BGN APOH
3 ciliary tip GO:0097542 8.8 SUFU KIF7 GLI3

Biological processes related to Acrocallosal Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.74 SHH IHH GLI3
2 camera-type eye development GO:0043010 9.73 SHH IHH GLI3
3 heart looping GO:0001947 9.71 SUFU SHH IHH
4 negative regulation of cell differentiation GO:0045596 9.7 SHH IHH GLI3
5 pattern specification process GO:0007389 9.69 SHH IHH GLI3
6 embryonic digit morphogenesis GO:0042733 9.67 SHH IHH GLI3
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.63 SHH IHH
8 embryonic pattern specification GO:0009880 9.63 SHH IHH
9 positive regulation of smoothened signaling pathway GO:0045880 9.63 SHH KIF7 IHH
10 positive regulation of neuroblast proliferation GO:0002052 9.62 SHH GLI3
11 spinal cord motor neuron differentiation GO:0021522 9.62 SHH GLI3
12 embryonic morphogenesis GO:0048598 9.61 SHH GLI3
13 anatomical structure formation involved in morphogenesis GO:0048646 9.61 SHH GLI3
14 somite development GO:0061053 9.6 SHH IHH
15 prostate gland development GO:0030850 9.59 SHH GLI3
16 negative thymic T cell selection GO:0045060 9.58 SHH GLI3
17 positive regulation of T cell differentiation in thymus GO:0033089 9.58 SHH IHH
18 artery development GO:0060840 9.55 SHH GLI3
19 negative regulation of smoothened signaling pathway GO:0045879 9.5 SUFU KIF7 GLI3
20 hindgut morphogenesis GO:0007442 9.48 SHH GLI3
21 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.43 SUFU GLI3
22 embryonic digestive tract morphogenesis GO:0048557 9.43 SHH IHH GLI3
23 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.4 SUFU GLI3
24 intein-mediated protein splicing GO:0016539 9.37 SHH IHH
25 positive regulation of alpha-beta T cell differentiation GO:0046638 9.33 SHH IHH GLI3
26 spinal cord dorsal/ventral patterning GO:0021513 9.13 SUFU SHH GLI3
27 negative regulation of alpha-beta T cell differentiation GO:0046639 8.8 SHH IHH GLI3

Molecular functions related to Acrocallosal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 TNMD TNKS2 TICRR SUFU SHH RFXANK
2 patched binding GO:0005113 8.62 SHH IHH

Sources for Acrocallosal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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