ACLS
MCID: ACR008
MIFTS: 69

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 29 13 54 6 43 15 71
Schinzel Acrocallosal Syndrome 56 12 52 25 73
Joubert Syndrome 12 56 73 29 6 71
Acls 56 12 52 25 73
Acrocallosal Syndrome, Schinzel Type 74 52 71
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 schinzel acrocallosal syndrome, is related to hydrolethalus syndrome 2 and chromosome 2q35 duplication 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, bone and heart, and related phenotypes are aplasia/hypoplasia of the corpus callosum and hypertelorism

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 1025)
# Related Disease Score Top Affiliating Genes
1 hydrolethalus syndrome 2 33.0 KIF7 HYLS1
2 chromosome 2q35 duplication syndrome 31.2 SHH IHH GLI3
3 greig cephalopolysyndactyly syndrome 31.1 SUFU SHH KIF7 IHH GLI3
4 pallister-hall syndrome 30.6 SHH KIF7 GLI3
5 synostosis 30.5 SHH IHH GLI3
6 joubert syndrome 1 30.5 SHH KIF7 IHH HYLS1 GLI3
7 hirschsprung disease 1 30.4 SHH L1CAM IHH GLI3
8 cleft palate, isolated 30.3 SHH MKX IHH GLI3
9 basal cell carcinoma 30.2 SUFU SHH KIF7 IHH GLI3
10 angioedema induced by ace inhibitors 12.8
11 ritscher-schinzel syndrome 1 12.7
12 saethre-chotzen syndrome 11.8
13 pfeiffer syndrome 11.7
14 cutaneous lupus erythematosus 11.7
15 osteoarthritis 11.7
16 apert syndrome 11.5
17 farber lipogranulomatosis 11.5
18 lung cancer 11.5
19 adenocarcinoma 11.5
20 fabry disease 11.4
21 fainting 11.4
22 auriculo-condylar syndrome 11.4
23 spondylometaepiphyseal dysplasia, short limb-hand type 11.3
24 auriculocondylar syndrome 1 11.2
25 angioedema, hereditary, type i 11.1
26 glomerulopathy with fibronectin deposits 2 11.1
27 angular cheilitis 11.1
28 allergic conjunctivitis 11.1
29 giant papillary conjunctivitis 11.1
30 acrodermatitis 11.1
31 microvascular complications of diabetes 3 10.8
32 microvascular complications of diabetes 4 10.8
33 microvascular complications of diabetes 6 10.8
34 microvascular complications of diabetes 7 10.8
35 polydactyly 10.7
36 angioedema 10.7
37 kidney disease 10.7
38 hypertension, essential 10.7
39 cardiac arrest 10.6
40 lipoprotein quantitative trait locus 10.6
41 sarcoidosis 1 10.6
42 melanotic medulloblastoma 10.6 SUFU SHH
43 coronary heart disease 1 10.5
44 end stage renal disease 10.5
45 chronic kidney disease 10.5
46 intermediate coronary syndrome 10.5
47 acute myocardial infarction 10.5
48 medullomyoblastoma 10.5 SUFU SHH
49 nodular medulloblastoma 10.5 SUFU SHH
50 culler-jones syndrome 10.5 SHH IHH GLI3

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 hypertelorism 58 31 very rare (1%) Very frequent (99-80%) HP:0000316
3 macrocephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000256
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 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
13 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
14 wide anterior fontanel 58 31 frequent (33%) Occasional (29-5%) HP:0000260
15 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
16 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
17 umbilical hernia 31 frequent (33%) HP:0001537
18 short nose 31 frequent (33%) HP:0003196
19 failure to thrive 31 frequent (33%) HP:0001508
20 growth delay 31 frequent (33%) HP:0001510
21 epicanthus 31 frequent (33%) HP:0000286
22 downslanted palpebral fissures 31 frequent (33%) HP:0000494
23 preauricular skin tag 31 frequent (33%) HP:0000384
24 broad forehead 31 frequent (33%) HP:0000337
25 finger syndactyly 31 frequent (33%) HP:0006101
26 toe syndactyly 31 frequent (33%) HP:0001770
27 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
28 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
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 hearing impairment 31 occasional (7.5%) HP:0000365
35 optic atrophy 31 occasional (7.5%) HP:0000648
36 nystagmus 31 occasional (7.5%) HP:0000639
37 strabismus 31 occasional (7.5%) HP:0000486
38 micropenis 31 occasional (7.5%) HP:0000054
39 tapered finger 31 occasional (7.5%) HP:0001182
40 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
41 coloboma 31 occasional (7.5%) HP:0000589
42 intellectual disability 31 very rare (1%) HP:0001249
43 wide nasal bridge 31 very rare (1%) HP:0000431
44 smooth philtrum 31 very rare (1%) HP:0000319
45 frontal bossing 31 very rare (1%) HP:0002007
46 cleft palate 31 very rare (1%) HP:0000175
47 high palate 31 very rare (1%) HP:0000218
48 open mouth 31 very rare (1%) HP:0000194
49 cleft upper lip 31 very rare (1%) HP:0000204
50 long philtrum 31 very rare (1%) HP:0000343

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia
micropenis
hypospadias

Head And Neck Head:
macrocephaly
prominent occiput
large anterior fontanel

Abdomen External Features:
umbilical hernia

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

Growth Other:
postnatal growth retardation

Abdomen Gastrointestinal:
rectovaginal fistula
imperforate anus

Skeletal Feet:
toe syndactyly
duplicated halluces
preaxial or postaxial polydactyly

Cardiovascular Heart:
pulmonary valve defects
septal defects

Head And Neck Eyes:
hypertelorism
optic atrophy
nystagmus
strabismus
downslanting palpebral fissures
more
Neurologic Central Nervous System:
seizures
hypotonia
severe mental retardation
hypoplastic or absent corpus callosum
molar tooth sign on brain mri (subset of patients)

Head And Neck Face:
prominent forehead
short philtrum
hypoplastic midface

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Genitourinary Internal Genitalia Female:
rectovaginal fistula

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

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 growth/size/body region MP:0005378 10.23 BGN CTSC DCN GLI3 HYLS1 IHH
2 mortality/aging MP:0010768 10.18 ACLY APOH BGN DCN GLI3 HYLS1
3 craniofacial MP:0005382 10.13 BGN DCN GLI3 IHH KIF27 KIF7
4 integument MP:0010771 10.09 BGN CTSC DCN GLI3 L1CAM SHH
5 limbs/digits/tail MP:0005371 10.01 BGN GLI3 HYLS1 IHH KIF7 MKX
6 muscle MP:0005369 9.87 BGN DCN IHH KIF7 MKX SHH
7 no phenotypic analysis MP:0003012 9.8 GLI3 IHH KIF7 L1CAM MKX SHH
8 skeleton MP:0005390 9.73 BGN DCN GLI3 HYLS1 IHH KIF7
9 respiratory system MP:0005388 9.7 DCN GLI3 IHH KIF27 KIF7 SHH
10 vision/eye MP:0005391 9.23 DCN GLI3 IHH KIF7 L1CAM SHH

Drugs & Therapeutics for Acrocallosal Syndrome

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

(show top 50) (show all 88)
# 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 37350-58-6, 51384-51-1 4171
3 Hormones Phase 4
4 Anti-Arrhythmia Agents Phase 4
5 Calcium, Dietary Phase 4
6 calcium channel blockers Phase 4
7 Neurotransmitter Agents Phase 4
8 Adrenergic Agents Phase 4
9 Adrenergic beta-1 Receptor Antagonists Phase 4
10 Antihypertensive Agents Phase 4
11 Adrenergic Antagonists Phase 4
12 Sympatholytics Phase 4
13 Vasodilator Agents Phase 4
14 Adrenergic beta-Antagonists Phase 4
15
Calcium Nutraceutical Phase 4 7440-70-2 271
16
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
17
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
18
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
19
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
20
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
21
Enoxaparin Approved Phase 3 9005-49-6 772
22
Tenecteplase Approved Phase 3 191588-94-0
23 Analgesics Phase 3
24 Anesthetics Phase 2, Phase 3
25 Tocolytic Agents Phase 3
26 Anticonvulsants Phase 3
27 Cholinergic Agents Phase 2, Phase 3
28 Antineoplastic Agents, Hormonal Phase 2, Phase 3
29 Hormone Antagonists Phase 2, Phase 3
30 Antiemetics Phase 2, Phase 3
31 Cholinesterase Inhibitors Phase 2, Phase 3
32 Gastrointestinal Agents Phase 2, Phase 3
33 glucocorticoids Phase 2, Phase 3
34 Anti-Inflammatory Agents Phase 2, Phase 3
35 Fibrinolytic Agents Phase 3
36 Anticoagulants Phase 3
37
Doxazosin Approved Phase 1 74191-85-8 3157
38
Modafinil Approved, Investigational Phase 1 68693-11-8 4236
39
Cocaine Approved, Illicit Phase 1 50-36-2 446220 5760
40
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
41 Anesthetics, Local Phase 1
42 Dopamine Agents Phase 1
43 Adrenergic alpha-Antagonists Phase 1
44 Central Nervous System Stimulants Phase 1
45 Vasoconstrictor Agents Phase 1
46 Adrenergic alpha-1 Receptor Antagonists Phase 1
47
Levobupivacaine Approved, Investigational 27262-47-1 92253
48
Iodine Approved, Investigational 7553-56-2 807
49
Methylcobalamin Approved, Investigational 13422-55-4
50
Hydroxocobalamin Approved 13422-51-0 15589840 11953898

Interventional clinical trials:

(show top 50) (show all 52)
# 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 General Surgery Residents Education in Maximum Barrier Precautions During Central Venous Catheter Placement: Effect of Simulation-Based Training Completed NCT00787345 Phase 3
5 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
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 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
17 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
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 Effect of a Visual Feedback Device in Cardiopulmonary Resuscitation Training in AHA Certified ACLS Courses: Randomized Clinical Trial Completed NCT04338490
22 Assessing Respiratory Rate and Tidal Volume Delivery During Manual Ventilation Completed NCT03544164
23 Extracorporeal CPR for Refractory Out-of-Hospital Cardiac Arrest (EROCA) Completed NCT03065647
24 Visual Perception Exploration Using Eye-tracking Technology in High-fidelity Medical Simulation Completed NCT03049098
25 HYPGENE-Genetics Fitness Obesity & Risk of Hypertension Completed NCT00083811
26 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
27 REASON 1 Trial: Sonography in Cardiac Arrest Completed NCT01446471
28 Influences of DNAR Order Prohibition on Hospital Discharged Ratios and Neurological Outcomes at Discharge Completed NCT02585050
29 High Fidelity Simulation In Medecine Education Completed NCT02483546
30 Impact of Unexpected Death in Simulation: Skill Retention, Stress and Emotions Completed NCT03441425
31 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
32 Intraosseous Versus Intravenous Vascular Access During Cardiac Arrest Completed NCT01119807
33 Safety of Clinically Indicated Magnetic Resonance Imaging in Patients With Permanent Pacemakers (PPM) and Implanted Cardioverter Defibrillators Completed NCT02227004
34 A Single Institution Registry Trial Evaluating the Safety of MRI for Patients With Non-MRI Conditional Pacemakers and ICD Completed NCT02318550
35 Emergency Medicine Residents Performance in Maximum Barrier Precautions During Central Venous Catheter Placement: Effect of Stimulation-based Training Completed NCT00791583
36 Medical Residents Performance in Maximum Barrier Precautions During Central Venous Catheter Placement: Effect of Simulation-Based Training Completed NCT00612131
37 The Benefits of a Simplified Method for CPR Training of Medical Professionals: A Randomized Controlled Study Completed NCT01361919
38 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
39 Echocardiographic Surveillance of Patients Undergoing Scheduled Endoscopic Retrograde Cholangiopancreatography for the Presence of Intracardiac Air Embolus Completed NCT01535248
40 Resuscitative Balloon Occlusion of the Aorta (REBOA) in Non-traumatic Out of Hospital Cardiac Arrest - a Pilot Study Recruiting NCT03534011
41 Crisis Resource Management Improvement Through Intellectual Questioning of Authority Recruiting NCT03707964
42 Emergency Cardiopulmonary Bypass After Cardiac Arrest With Ongoing Cardiopulmonary Resuscitation - a Pilot Randomized Trial Recruiting NCT01605409
43 Percutaneous Left Stellate Ganglion Block In Out-of-hospital Cardiac Arrest Due to Refractory VEntricular Arrhythmias Recruiting NCT04168970
44 (RHAPSody) Diagnostic Utility of the Rapid Ultrasound for Shock and Hypotension (RUSH) Exam Following Return of Spontaneous Circulation (ROSC) in Cardiac Arrest Recruiting NCT03409289
45 The Development and Evaluation of the Efficacy for Echo-assisted Advanced Life Support Advanced Life Support (eALS) Recruiting NCT04148794
46 In Hospital Maternal Cardiac Arrests: Highlighting the Importance of the First 5 Minutes. Recruiting NCT04050631
47 VAPORHCS/OHSU J: Safety of Clinically Indicated Magnetic Resonance Imaging in Patients With Permanent Pacemakers (PPM) and Implanted Cardioverter Defibrillators (ICDs) Recruiting NCT03915015
48 Effect of Bedside Ultrasound Pre-imaging on CPR Pauses in Out of Hospital Arrest Active, not recruiting NCT04248985
49 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
50 Rescue Transesophageal Echocardiography for the Guidance of Cardiopulmonary Resuscitation for In-hospital Cardiac Arrest Versus Conventional ACLS Not yet recruiting NCT04220619

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 29 KIF7
2 Joubert Syndrome 12 29

Anatomical Context for Acrocallosal Syndrome

MalaCards organs/tissues related to Acrocallosal Syndrome:

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

Publications for Acrocallosal Syndrome

Articles related to Acrocallosal Syndrome:

(show top 50) (show all 1151)
# Title Authors PMID Year
1
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 6 56
22246503 2012
2
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6 56
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 56 61
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. 56 61
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. 56 61
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. 56 61
1887856 1991
15
The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. 56 61
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
Acrocallosal syndrome in a girl born to consanguineous parents. 56 61
2729348 1989
20
Acrocallosal syndrome: new findings. 61 56
2729349 1989
21
Hypogenitalism in the acrocallosal syndrome. 61 56
2658583 1989
22
Acrocallosal syndrome: additional manifestations. 56 61
2658584 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? 56 61
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
Advanced cardiac life support certification for student pharmacists improves simulated patient survival. 61
32565000 2020
35
Retrospective evaluation of resuscitation medication utilization in hospitalized adult patients with cardiac arrest. 61
32107069 2020
36
Lysyl oxidase suppresses the inflammatory response in anterior cruciate ligament fibroblasts and promotes tissue regeneration by targeting myotrophin via the nuclear factor-kappa B pathway. 61
32483895 2020
37
ACL Growth With Age in Pediatric Patients: An MRI Study. 61
32558741 2020
38
The association between ACLS guideline deviations and outcomes from in-hospital cardiac arrest. 61
32502576 2020
39
Patterns of cartilage loss and anterior cruciate ligament status in end-stage osteoarthritis of the knee. 61
32475247 2020
40
Personal activity intelligence and mortality - Data from the Aerobics Center Longitudinal Study. 61
32560967 2020
41
Data for beta-blockade in ACLS - A trial sequential analysis. 61
32114073 2020
42
Mobile App to Improve House Officers' Adherence to Advanced Cardiac Life Support Guidelines: Quality Improvement Study. 61
32427115 2020
43
Frontal EEG Changes with the Recovery of Carotid Blood Flow in a Cardiac Arrest Swine Model. 61
32481535 2020
44
Age-related changes in ACL morphology during skeletal growth and maturation are different between females and males. 61
32427346 2020
45
Hypoglycemic cardiac arrest and rapid return-of-spontaneous circulation (ROSC) with dextrose - A case report. 61
32461056 2020
46
Fibrocartilaginous metaplasia and neovascularization of the anterior cruciate ligament in patients with osteoarthritis. 61
32243680 2020
47
Imaging features, complications and differential diagnoses of abdominal cystic lymphangiomas. 61
32296900 2020
48
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 2020
49
Rituximab Use and Hypogammaglobulinemia. 61
32269210 2020
50
Leg massage during pregnancy with unrecognized deep vein thrombosis could be life threatening: a case report. 61
32321459 2020

Variations for Acrocallosal Syndrome

ClinVar genetic disease variations for Acrocallosal Syndrome:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF7 NM_198525.3(KIF7):c.2593-3C>GSNV Pathogenic 427889 rs774403667 15:90176500-90176500 15:89633269-89633269
2 KIF7 NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter)SNV Pathogenic 427891 rs1555424505 15:90188271-90188271 15:89645040-89645040
3 KIF7 NM_198525.3(KIF7):c.1643dup (p.Arg549fs)duplication Pathogenic 427890 rs1555424684 15:90190205-90190206 15:89646974-89646975
4 KIF7 NM_198525.3(KIF7):c.157C>T (p.Arg53Ter)SNV Pathogenic 463142 rs569323391 15:90196005-90196005 15:89652774-89652774
5 KIF7 NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)SNV Pathogenic 587434 rs1235928535 15:90196095-90196095 15:89652864-89652864
6 KIF7 NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)deletion Pathogenic 30895 rs752248403 15:90174940-90174941 15:89631709-89631710
7 KIF7 NM_198525.3(KIF7):c.460C>T (p.Arg154Ter)SNV Pathogenic 30896 rs387907044 15:90193041-90193041 15:89649810-89649810
8 KIF7 NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)SNV Pathogenic 30897 rs387907045 15:90174836-90174836 15:89631605-89631605
9 KIF7 NM_198525.3(KIF7):c.587dup (p.Glu197fs)duplication Pathogenic 30898 rs797044463 15:90192540-90192541 15:89649309-89649310
10 KIF7 NM_198525.3(KIF7):c.687del (p.Arg230fs)deletion Pathogenic 30899 rs797044464 15:90192441-90192441 15:89649210-89649210
11 KIF7 NM_198525.3(KIF7):c.217del (p.Ala73fs)deletion Pathogenic 30900 rs797044465 15:90195945-90195945 15:89652714-89652714
12 KIF7 NM_198525.3(KIF7):c.811del (p.Glu271fs)deletion Pathogenic 30901 rs797044466 15:90192317-90192317 15:89649086-89649086
13 KIF7 NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter)SNV Pathogenic 208593 rs797045093 15:90174893-90174893 15:89631662-89631662
14 KIF7 NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)SNV Pathogenic 217670 rs778139192 15:90172792-90172792 15:89629561-89629561
15 KIF7 NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter)SNV Pathogenic 217671 rs202229910 15:90174920-90174920 15:89631689-89631689
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.3518-1G>CSNV Likely pathogenic 568940 rs1567057019 15:90172354-90172354 15:89629123-89629123
18 KIF7 NM_198525.3(KIF7):c.423_428del (p.His142_Val143del)deletion Likely pathogenic 427637 rs1555425036 15:90193073-90193078 15:89649842-89649847
19 KIF7 NM_198525.3(KIF7):c.1922+13C>TSNV Conflicting interpretations of pathogenicity 508717 rs376321790 15:90189111-90189111 15:89645880-89645880
20 KIF7 NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)SNV Conflicting interpretations of pathogenicity 531999 rs147191956 15:90173634-90173634 15:89630403-89630403
21 KIF7 NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)SNV Conflicting interpretations of pathogenicity 596870 rs144929293 15:90171944-90171944 15:89628713-89628713
22 KIF7 NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)SNV Conflicting interpretations of pathogenicity 596872 rs141514601 15:90176960-90176960 15:89633729-89633729
23 KIF7 NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)SNV Conflicting interpretations of pathogenicity 596874 rs143877028 15:90171840-90171840 15:89628609-89628609
24 KIF7 NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)SNV Conflicting interpretations of pathogenicity 252807 rs138354681 15:90177008-90177008 15:89633777-89633777
25 KIF7 NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)SNV Conflicting interpretations of pathogenicity 263153 rs141028210 15:90171722-90171722 15:89628491-89628491
26 KIF7 NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)SNV Conflicting interpretations of pathogenicity 194572 rs138410949 15:90174856-90174856 15:89631625-89631625
27 KIF7 NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)SNV Conflicting interpretations of pathogenicity 194996 rs145726393 15:90171684-90171684 15:89628453-89628453
28 KIF7 NM_198525.3(KIF7):c.3665-5G>ASNV Conflicting interpretations of pathogenicity 194997 rs79532879 15:90172022-90172022 15:89628791-89628791
29 KIF7 NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)SNV Conflicting interpretations of pathogenicity 194998 rs138993311 15:90171768-90171768 15:89628537-89628537
30 KIF7 NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)SNV Conflicting interpretations of pathogenicity 195000 rs150248985 15:90171738-90171738 15:89628507-89628507
31 KIF7 NM_198525.3(KIF7):c.336C>T (p.Leu112=)SNV Conflicting interpretations of pathogenicity 196602 rs794727530 15:90193165-90193165 15:89649934-89649934
32 KIF7 NM_198525.3(KIF7):c.516G>A (p.Glu172=)SNV Conflicting interpretations of pathogenicity 96656 rs199959946 15:90192985-90192985 15:89649754-89649754
33 KIF7 NM_198525.3(KIF7):c.612C>T (p.His204=)SNV Conflicting interpretations of pathogenicity 96657 rs398124613 15:90192516-90192516 15:89649285-89649285
34 KIF7 NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)SNV Conflicting interpretations of pathogenicity 129404 rs587780375 15:90191709-90191709 15:89648478-89648478
35 KIF7 NM_198525.3(KIF7):c.2192-13C>TSNV Conflicting interpretations of pathogenicity 263141 rs201251064 15:90185649-90185649 15:89642418-89642418
36 KIF7 NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)SNV Conflicting interpretations of pathogenicity 283923 rs553968087 15:90191752-90191752 15:89648521-89648521
37 KIF7 NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)SNV Conflicting interpretations of pathogenicity 284660 rs151317163 15:90185591-90185591 15:89642360-89642360
38 KIF7 NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)SNV Conflicting interpretations of pathogenicity 286941 rs138196132 15:90172609-90172609 15:89629378-89629378
39 KIF7 NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)SNV Conflicting interpretations of pathogenicity 287636 rs141463861 15:90176085-90176085 15:89632854-89632854
40 KIF7 NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)SNV Conflicting interpretations of pathogenicity 317350 rs147767277 15:90171923-90171923 15:89628692-89628692
41 KIF7 NM_198525.3(KIF7):c.1290C>T (p.Pro430=)SNV Conflicting interpretations of pathogenicity 317368 rs886051534 15:90191639-90191639 15:89648408-89648408
42 KIF7 NM_198525.3(KIF7):c.2613G>A (p.Glu871=)SNV Conflicting interpretations of pathogenicity 317354 rs370595622 15:90176477-90176477 15:89633246-89633246
43 KIF7 NM_198525.3(KIF7):c.1296G>A (p.Leu432=)SNV Conflicting interpretations of pathogenicity 317367 rs886051533 15:90191633-90191633 15:89648402-89648402
44 KIF7 NM_198525.3(KIF7):c.960G>A (p.Thr320=)SNV Uncertain significance 317372 rs886051538 15:90191969-90191969 15:89648738-89648738
45 KIF7 NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)SNV Uncertain significance 317349 rs886051529 15:90171725-90171725 15:89628494-89628494
46 KIF7 NM_198525.3(KIF7):c.*191T>ASNV Uncertain significance 317344 rs559070002 15:90171459-90171459 15:89628228-89628228
47 KIF7 NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln)SNV Uncertain significance 317355 rs758378987 15:90177083-90177083 15:89633852-89633852
48 KIF7 NM_198525.3(KIF7):c.2341T>C (p.Ser781Pro)SNV Uncertain significance 317357 rs886051530 15:90185487-90185487 15:89642256-89642256
49 KIF7 NM_198525.3(KIF7):c.2337G>A (p.Glu779=)SNV Uncertain significance 317358 rs202089770 15:90185491-90185491 15:89642260-89642260
50 KIF7 NM_198525.3(KIF7):c.2322C>A (p.Leu774=)SNV Uncertain significance 317359 rs145339415 15:90185506-90185506 15:89642275-89642275

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

Pathways related to Acrocallosal Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 SUFU SHH KIF7 IHH GLI3
2
Show member pathways
11.94 SUFU SHH KIF7 GLI3
3 11.08 SUFU SHH GLI3
4 11.05 SUFU SHH KIF7 IHH GLI3
5 10.32 SHH GLI3
6
Show member pathways
10.3 SUFU SHH KIF7 IHH GLI3

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 extracellular matrix GO:0031012 9.56 SHH IHH DCN BGN
2 cilium GO:0005929 9.55 SUFU KIF7 KIF27 HYLS1 GLI3
3 ciliary tip GO:0097542 9.13 SUFU KIF7 GLI3
4 collagen-containing extracellular matrix GO:0062023 9.1 SHH L1CAM DCN CTSC BGN APOH

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.82 TNMD DCN APOH
2 kidney development GO:0001822 9.81 SHH GLI3 DCN
3 heart looping GO:0001947 9.74 SUFU SHH IHH
4 camera-type eye development GO:0043010 9.73 SHH IHH GLI3
5 negative regulation of cell differentiation GO:0045596 9.72 SHH IHH GLI3
6 embryonic digit morphogenesis GO:0042733 9.71 SHH IHH GLI3
7 pattern specification process GO:0007389 9.7 SHH IHH GLI3
8 negative regulation of endothelial cell migration GO:0010596 9.66 DCN APOH
9 spinal cord motor neuron differentiation GO:0021522 9.65 SHH GLI3
10 positive regulation of neuroblast proliferation GO:0002052 9.65 SHH GLI3
11 positive regulation of smoothened signaling pathway GO:0045880 9.65 SHH KIF7 IHH
12 embryonic morphogenesis GO:0048598 9.64 SHH GLI3
13 anatomical structure formation involved in morphogenesis GO:0048646 9.63 SHH GLI3
14 protein autoprocessing GO:0016540 9.63 SHH IHH
15 somite development GO:0061053 9.62 SHH IHH
16 smooth muscle tissue development GO:0048745 9.62 SHH IHH
17 prostate gland development GO:0030850 9.61 SHH GLI3
18 chondroitin sulfate catabolic process GO:0030207 9.61 DCN BGN
19 dermatan sulfate biosynthetic process GO:0030208 9.6 DCN BGN
20 negative thymic T cell selection GO:0045060 9.59 SHH GLI3
21 positive regulation of T cell differentiation in thymus GO:0033089 9.58 SHH IHH
22 artery development GO:0060840 9.58 SHH GLI3
23 negative regulation of smoothened signaling pathway GO:0045879 9.58 SUFU KIF7 GLI3
24 smoothened signaling pathway GO:0007224 9.56 SUFU SHH IHH GLI3
25 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.51 DCN BGN
26 embryonic digestive tract morphogenesis GO:0048557 9.5 SHH IHH GLI3
27 hindgut morphogenesis GO:0007442 9.49 SHH GLI3
28 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.46 SUFU GLI3
29 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.43 SUFU GLI3
30 intein-mediated protein splicing GO:0016539 9.37 SHH IHH
31 positive regulation of alpha-beta T cell differentiation GO:0046638 9.33 SHH IHH GLI3
32 spinal cord dorsal/ventral patterning GO:0021513 9.13 SUFU SHH GLI3
33 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 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.16 DCN BGN
2 patched binding GO:0005113 8.96 SHH IHH
3 glycosaminoglycan binding GO:0005539 8.8 SHH DCN BGN

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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