JBTS12
MCID: ACR008
MIFTS: 60

Acrocallosal Syndrome (JBTS12)

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 58 12 54 26 60 76 38 13 56 45 15 74
Acrocallosal Syndrome, Schinzel Type 77 54 30 6 74
Schinzel Acrocallosal Syndrome 58 12 54 26 76
Joubert Syndrome 12 58 76 30 6 74
Acls 58 12 54 26 76
Schinzel Syndrome 1 12 54 26
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum 58 26
Acs 54 60
Absence of Corpus Callosum with Unusual Facial Appearance, Mental Deficiency, Duplication of the Halluces and Polydactyly 54
Hallux Duplication Postaxial Polydactyly and Absence of Corpus Callosum 76
Acrocallosal Syndrome; ) 41
Jbts12 76

Characteristics:

Orphanet epidemiological data:

60
acrocallosal syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype



Classifications:



Summaries for Acrocallosal Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 36Disease definitionAcrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.EpidemiologyThe prevalence is not known but fewer than 50 cases of ACS have been published since the first description in 1979.Clinical descriptionIn 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.EtiologyMutations 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 methodsDiagnosis 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 diagnosisDifferential 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 diagnosisAntenatal diagnosis is based on ultrasonography examination from the 20th week of gestation and magnetic resonance imaging (MRI) of the fetus.Genetic counselingACS 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 treatmentSurgical intervention may be considered for the polydactyly.PrognosisPrognosis 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 post-cardiac arrest syndrome and angioedema induced by ace inhibitors, 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 Pathways in cancer. 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 : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 585)
# Related Disease Score Top Affiliating Genes
1 post-cardiac arrest syndrome 29.8 RBM28 RFXANK
2 angioedema induced by ace inhibitors 12.7
3 ritscher-schinzel syndrome 1 12.5
4 saethre-chotzen syndrome 11.7
5 pfeiffer syndrome 11.6
6 hydrolethalus syndrome 2 11.5
7 stroke, ischemic 11.4
8 farber lipogranulomatosis 11.4
9 apert syndrome 11.3
10 spondylometaepiphyseal dysplasia, short limb-hand type 11.2
11 auriculo-condylar syndrome 11.2
12 cone-rod dystrophy and hearing loss 2 11.1
13 auriculocondylar syndrome 1 11.1
14 angioedema, hereditary, type i 11.0
15 glomerulopathy with fibronectin deposits 2 11.0
16 fabry disease 11.0
17 angular cheilitis 11.0
18 acrodermatitis 11.0
19 syncope 11.0
20 fainting 11.0
21 rere-related disorders 10.6
22 angioedema 10.6
23 myocardial infarction 10.6
24 ischemia 10.5
25 microvascular complications of diabetes 3 10.5
26 microvascular complications of diabetes 4 10.5
27 microvascular complications of diabetes 6 10.5
28 microvascular complications of diabetes 7 10.5
29 cardiac arrest 10.4
30 osteoarthritis 10.4
31 hypertension, essential 10.4
32 disorganization, mouse, homolog of 10.4
33 diabetes mellitus 10.4
34 acute myocardial infarction 10.4
35 arteries, anomalies of 10.4
36 congestive heart failure 10.4
37 coronary artery anomaly 10.3
38 bestrophinopathy, autosomal recessive 10.3
39 kidney disease 10.3
40 heart disease 10.3
41 holoprosencephaly 4 10.3 GLI3 SHH
42 iga glomerulonephritis 10.3
43 arthritis 10.2
44 alzheimer disease 10.2
45 monocular esotropia 10.2
46 esotropia 10.2
47 albinism, oculocutaneous, type v 10.2 SHH SUFU
48 atrial fibrillation 10.2
49 cutaneous leishmaniasis 10.2
50 septic arthritis 10.2

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:

60 33 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the corpus callosum 60 33 obligate (100%) Very frequent (99-80%) HP:0007370
2 macrocephaly 60 33 very rare (1%) Very frequent (99-80%) HP:0000256
3 hypertelorism 60 33 very rare (1%) Very frequent (99-80%) HP:0000316
4 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
5 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
6 preaxial hand polydactyly 33 hallmark (90%) HP:0001177
7 postaxial foot polydactyly 33 hallmark (90%) HP:0001830
8 preaxial foot polydactyly 33 hallmark (90%) HP:0001841
9 duplication of thumb phalanx 33 hallmark (90%) HP:0009942
10 duplication of phalanx of hallux 33 hallmark (90%) HP:0010066
11 inguinal hernia 60 33 frequent (33%) Occasional (29-5%) HP:0000023
12 prominent occiput 60 33 frequent (33%) Frequent (79-30%) HP:0000269
13 wide anterior fontanel 60 33 frequent (33%) Occasional (29-5%) HP:0000260
14 triphalangeal thumb 60 33 frequent (33%) Frequent (79-30%) HP:0001199
15 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340
16 dandy-walker malformation 60 33 frequent (33%) Frequent (79-30%) HP:0001305
17 finger syndactyly 33 frequent (33%) HP:0006101
18 failure to thrive 33 frequent (33%) HP:0001508
19 umbilical hernia 33 frequent (33%) HP:0001537
20 short nose 33 frequent (33%) HP:0003196
21 epicanthus 33 frequent (33%) HP:0000286
22 growth delay 33 frequent (33%) HP:0001510
23 broad forehead 33 frequent (33%) HP:0000337
24 downslanted palpebral fissures 33 frequent (33%) HP:0000494
25 preauricular skin tag 33 frequent (33%) HP:0000384
26 toe syndactyly 33 frequent (33%) HP:0001770
27 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
28 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
29 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
30 hypospadias 60 33 very rare (1%) Occasional (29-5%) HP:0000047
31 abnormality of the clavicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0000889
32 tall stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0000098
33 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
34 nystagmus 33 occasional (7.5%) HP:0000639
35 hearing impairment 33 occasional (7.5%) HP:0000365
36 optic atrophy 33 occasional (7.5%) HP:0000648
37 strabismus 33 occasional (7.5%) HP:0000486
38 tapered finger 33 occasional (7.5%) HP:0001182
39 micropenis 33 occasional (7.5%) HP:0000054
40 posteriorly rotated ears 33 occasional (7.5%) HP:0000358
41 coloboma 33 occasional (7.5%) HP:0000589
42 frontal bossing 33 very rare (1%) HP:0002007
43 high palate 33 very rare (1%) HP:0000218
44 intellectual disability 33 very rare (1%) HP:0001249
45 seizures 33 very rare (1%) HP:0001250
46 wide nasal bridge 33 very rare (1%) HP:0000431
47 smooth philtrum 33 very rare (1%) HP:0000319
48 cleft palate 33 very rare (1%) HP:0000175
49 long philtrum 33 very rare (1%) HP:0000343
50 abnormality of the pinna 33 very rare (1%) HP:0000377

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Mouth:
cleft palate
cleft lip
triangular mouth
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

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

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

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

Cardiovascular Heart:
pulmonary valve defects
septal defects

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:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 CHST14 CTSC GLI3 IHH KIF7 L1CAM
2 craniofacial MP:0005382 10.1 CHST14 GLI3 IHH KIF7 L1CAM NOTCH1
3 integument MP:0010771 10.01 CHST14 CTSC GLI3 L1CAM NOTCH1 SHH
4 embryo MP:0005380 10 GLI3 IHH KIF7 NOTCH1 PIR SHH
5 nervous system MP:0003631 9.97 CHST14 CTSC GLI3 IHH KIF7 L1CAM
6 digestive/alimentary MP:0005381 9.95 GLI3 IHH KIF7 NOTCH1 SHH SUFU
7 limbs/digits/tail MP:0005371 9.85 CHST14 GLI3 IHH KIF7 SHH SUFU
8 no phenotypic analysis MP:0003012 9.73 GLI3 IHH KIF7 L1CAM SHH SUFU
9 respiratory system MP:0005388 9.63 GLI3 IHH KIF7 NOTCH1 SHH SUFU
10 skeleton MP:0005390 9.56 CHST14 GLI3 IHH KIF7 L1CAM NOTCH1
11 vision/eye MP:0005391 9.17 GLI3 IHH KIF7 L1CAM NOTCH1 SHH

Drugs & Therapeutics for Acrocallosal Syndrome

Search Clinical Trials , 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 30 KIF7
2 Joubert Syndrome 12 30

Anatomical Context for Acrocallosal Syndrome

MalaCards organs/tissues related to Acrocallosal Syndrome:

42
Brain, Heart, Bone, Temporal Lobe, Kidney, Pons, Medulla Oblongata

Publications for Acrocallosal Syndrome

Articles related to Acrocallosal Syndrome:

(show top 50) (show all 187)
# Title Authors Year
1
Update: 2017/2018 AHA BLS, ACLS, and PALS guidelines. ( 30676559 )
2019
2
Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice. ( 30445565 )
2018
3
Anaesthetising an infant with acrocallosal syndrome: An unusual case. ( 29910499 )
2018
4
Transcutaneous cardiac pacing competency among junior residents undergoing an ACLS course: impact of a modified high fidelity manikin. ( 30555721 )
2018
5
Impact of training in Advanced Cardiac Life Support (ACLS) in the professional career and work environment. ( 29538568 )
2018
6
Adherence to advanced cardiovascular life support (ACLS) guidelines during in-hospital cardiac arrest is associated with improved outcomes. ( 29885353 )
2018
7
Perioperative ACLS/Cognitive Aids in Resuscitation. ( 28598877 )
2017
8
Cardiac Arrest: Obstetric CPR/ACLS. ( 28079556 )
2017
9
The role of resuscitative endovascular balloon occlusion of the aorta (REBOA) as an adjunct to ACLS in non-traumatic cardiac arrest. ( 28117180 )
2017
10
Is current training in basic and advanced cardiac life support (BLS & ACLS) effective? A study of BLS & ACLS knowledge amongst healthcare professionals of North-Kerala. ( 27942342 )
2016
11
The impact of simulated patient death on medical students' stress response and learning of ACLS. ( 27052665 )
2016
12
Update: 2015 AHA BLS and ACLS guidelines. ( 26716679 )
2016
13
When to Stop CPR and When to Perform Rhythm Analysis: Potential Confusion Among ACLS Providers. ( 25542192 )
2016
14
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. ( 26648833 )
2015
15
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY. ( 26349186 )
2015
16
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. ( 26174511 )
2015
17
A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. ( 25714560 )
2015
18
A comparison of the outcome of CPR according to AHA 2005 ACLS and AHA 2010 ACLS guidelines in cardiac arrest: multicenter study. ( 26885104 )
2015
19
Reconstructed ACLs have different cross-sectional areas compared to the native contralaterals on postoperative MRIs. A pilot study. ( 25912573 )
2015
20
The acrocallosal syndrome in a neonate with further widening of phenotypic expression. ( 24949054 )
2014
21
Impact of levels of simulation fidelity on training of interns in ACLS. ( 25502137 )
2014
22
Randomized trial of a novel ACLS teaching tool: does it improve student performance? ( 25493153 )
2014
23
Evaluating Simulation-Based ACLS Education on Patient Outcomes: A Randomized, Controlled Pilot Study. ( 25210581 )
2014
24
High-fidelity simulation enhances ACLS training. ( 25010238 )
2014
25
ACLS training: comparison of physicians and nurses with teamwork-based high-fidelity simulation. ( 24974370 )
2014
26
Impact of High-Fidelity Simulation and Pharmacist-Specific Didactic Lectures in Addition to ACLS Provider Certification on Pharmacy Resident ACLS Performance. ( 24376000 )
2014
27
The effect of adherence to ACLS protocols on survival of event in the setting of in-hospital cardiac arrest. ( 24103233 )
2014
28
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. ( 23142271 )
2013
29
A de novo GLI3 mutation in a patient with acrocallosal syndrome. ( 23633388 )
2013
30
A novel ACLS team leader checklist implemented to improve resuscitation efforts. ( 23558006 )
2013
31
Osteoarthritis: Mohawk is downregulated in ACLs from knees with OA. ( 23732566 )
2013
32
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. ( 23125460 )
2012
33
A large duplication involving the IHH locus mimics acrocallosal syndrome. ( 22234151 )
2012
34
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. ( 22246503 )
2012
35
An Effective Method of Teaching Advanced Cardiac Life Support (ACLS) Skills in Simulation-Based Training. ( 25812786 )
2012
36
Echocardiography integrated ACLS protocol versus conventional cardiopulmonary resuscitation in patients with pulseless electrical activity cardiac arrest. ( 23069099 )
2012
37
Effect of Timing of Surgery in Partially Injured ACLs. ( 22588397 )
2012
38
Indian and United States paramedic students: comparison of examination performance for the American Heart Association Advanced Cardiovascular Life Support (ACLS) training. ( 22244286 )
2012
39
Physician experience in addition to ACLS training does not significantly affect the outcome of prehospital cardiac arrest. ( 20571408 )
2011
40
Can course format influence the performance of students in an advanced cardiac life support (ACLS) program? ( 21085890 )
2011
41
Are you up to date on the latest BLS and ACLS guidelines? ( 21487275 )
2011
42
Combined lipid emulsion and ACLS resuscitation following bupivacaine- and hypoxia-induced cardiovascular collapse in unanesthetized swine. ( 21560976 )
2011
43
Comparison of traditional versus high-fidelity simulation in the retention of ACLS knowledge. ( 21764498 )
2011
44
Amiodarone supplants lidocaine in ACLS and CPR protocols. ( 21871409 )
2011
45
Acrocallosal syndrome in a young hypertensive male. ( 22696705 )
2011
46
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. ( 21552264 )
2011
47
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ( 21633164 )
2011
48
2010 BLS and ACLS guideline changes: post-cardiac arrest syndrome and therapeutic hypothermia. ( 21848044 )
2011
49
Comparison of traditional advanced cardiac life support (ACLS) course instruction vs. a scenario-based, performance oriented team instruction (SPOTI) method for Korean paramedic students. ( 18722743 )
2010
50
Evaluating the efficacy of simulators and multimedia for refreshing ACLS skills in India. ( 19926385 )
2010

Variations for Acrocallosal Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 KIF7 p.Arg702Gln VAR_066452 rs149078926

ClinVar genetic disease variations for Acrocallosal Syndrome:

6 (show top 50) (show all 234)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF7 NM_198525.2(KIF7): c.-75G> A single nucleotide variant Uncertain significance rs886051545 GRCh37 Chromosome 15, 90198680: 90198680
2 KIF7 NM_198525.2(KIF7): c.-75G> A single nucleotide variant Uncertain significance rs886051545 GRCh38 Chromosome 15, 89655449: 89655449
3 KIF7 NM_198525.2(KIF7): c.623C> T (p.Thr208Met) single nucleotide variant Uncertain significance rs886051541 GRCh37 Chromosome 15, 90192505: 90192505
4 KIF7 NM_198525.2(KIF7): c.623C> T (p.Thr208Met) single nucleotide variant Uncertain significance rs886051541 GRCh38 Chromosome 15, 89649274: 89649274
5 KIF7 NM_198525.2(KIF7): c.643A> G (p.Ser215Gly) single nucleotide variant Uncertain significance rs886051540 GRCh37 Chromosome 15, 90192485: 90192485
6 KIF7 NM_198525.2(KIF7): c.643A> G (p.Ser215Gly) single nucleotide variant Uncertain significance rs886051540 GRCh38 Chromosome 15, 89649254: 89649254
7 KIF7 NM_198525.2(KIF7): c.1297C> A (p.Pro433Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 89648401: 89648401
8 KIF7 NM_198525.2(KIF7): c.1297C> A (p.Pro433Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 90191632: 90191632
9 KIF7 NM_198525.2(KIF7): c.2060G> A (p.Arg687Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 89645144: 89645144
10 KIF7 NM_198525.2(KIF7): c.2060G> A (p.Arg687Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 90188375: 90188375
11 KIF7 NM_198525.2(KIF7): c.2735A> G (p.Lys912Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 89632980: 89632980
12 KIF7 NM_198525.2(KIF7): c.2735A> G (p.Lys912Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 90176211: 90176211
13 KIF7 NM_198525.2(KIF7): c.2815C> T (p.Arg939Trp) single nucleotide variant Uncertain significance rs142786336 GRCh37 Chromosome 15, 90176131: 90176131
14 KIF7 NM_198525.2(KIF7): c.2815C> T (p.Arg939Trp) single nucleotide variant Uncertain significance rs142786336 GRCh38 Chromosome 15, 89632900: 89632900
15 KIF7 NM_198525.2(KIF7): c.2421G> C (p.Thr807=) single nucleotide variant Likely benign rs141497185 GRCh37 Chromosome 15, 90177088: 90177088
16 KIF7 NM_198525.2(KIF7): c.2421G> C (p.Thr807=) single nucleotide variant Likely benign rs141497185 GRCh38 Chromosome 15, 89633857: 89633857
17 KIF7 NM_198525.2(KIF7): c.2654C> T (p.Ala885Val) single nucleotide variant Uncertain significance rs774073055 GRCh38 Chromosome 15, 89633205: 89633205
18 KIF7 NM_198525.2(KIF7): c.2654C> T (p.Ala885Val) single nucleotide variant Uncertain significance rs774073055 GRCh37 Chromosome 15, 90176436: 90176436
19 KIF7 NM_198525.2(KIF7): c.3202C> T (p.Arg1068Trp) single nucleotide variant Benign rs147191956 GRCh38 Chromosome 15, 89630403: 89630403
20 KIF7 NM_198525.2(KIF7): c.3202C> T (p.Arg1068Trp) single nucleotide variant Benign rs147191956 GRCh37 Chromosome 15, 90173634: 90173634
21 KIF7 NM_198525.2(KIF7): c.2131C> T (p.Arg711Trp) single nucleotide variant Uncertain significance rs1255667027 GRCh37 Chromosome 15, 90188304: 90188304
22 KIF7 NM_198525.2(KIF7): c.2131C> T (p.Arg711Trp) single nucleotide variant Uncertain significance rs1255667027 GRCh38 Chromosome 15, 89645073: 89645073
23 KIF7 NM_198525.2(KIF7): c.3968A> G (p.Lys1323Arg) single nucleotide variant Uncertain significance rs537735484 GRCh37 Chromosome 15, 90171714: 90171714
24 KIF7 NM_198525.2(KIF7): c.3968A> G (p.Lys1323Arg) single nucleotide variant Uncertain significance rs537735484 GRCh38 Chromosome 15, 89628483: 89628483
25 KIF7 NM_198525.2(KIF7): c.2425C> T (p.Arg809Trp) single nucleotide variant Uncertain significance rs367734857 GRCh37 Chromosome 15, 90177084: 90177084
26 KIF7 NM_198525.2(KIF7): c.2425C> T (p.Arg809Trp) single nucleotide variant Uncertain significance rs367734857 GRCh38 Chromosome 15, 89633853: 89633853
27 KIF7 NM_198525.2(KIF7): c.1789-7C> T single nucleotide variant Benign rs544015325 GRCh38 Chromosome 15, 89646033: 89646033
28 KIF7 NM_198525.2(KIF7): c.1789-7C> T single nucleotide variant Benign rs544015325 GRCh37 Chromosome 15, 90189264: 90189264
29 KIF7 NM_198525.2(KIF7): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs569323391 GRCh38 Chromosome 15, 89652774: 89652774
30 KIF7 NM_198525.2(KIF7): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs569323391 GRCh37 Chromosome 15, 90196005: 90196005
31 KIF7 NM_198525.2(KIF7): c.2420C> A (p.Thr807Lys) single nucleotide variant Uncertain significance rs757175418 GRCh38 Chromosome 15, 89633858: 89633858
32 KIF7 NM_198525.2(KIF7): c.2420C> A (p.Thr807Lys) single nucleotide variant Uncertain significance rs757175418 GRCh37 Chromosome 15, 90177089: 90177089
33 KIF7 NM_198525.2(KIF7): c.461G> A (p.Arg154Gln) single nucleotide variant Uncertain significance rs180758272 GRCh38 Chromosome 15, 89649809: 89649809
34 KIF7 NM_198525.2(KIF7): c.461G> A (p.Arg154Gln) single nucleotide variant Uncertain significance rs180758272 GRCh37 Chromosome 15, 90193040: 90193040
35 KIF7 NM_198525.2(KIF7): c.2354A> T (p.Glu785Val) single nucleotide variant Uncertain significance rs759424882 GRCh38 Chromosome 15, 89642243: 89642243
36 KIF7 NM_198525.2(KIF7): c.2354A> T (p.Glu785Val) single nucleotide variant Uncertain significance rs759424882 GRCh37 Chromosome 15, 90185474: 90185474
37 KIF7 NM_198525.2(KIF7): c.1643dup (p.Arg549Alafs) duplication Pathogenic rs1555424684 GRCh38 Chromosome 15, 89646975: 89646975
38 KIF7 NM_198525.2(KIF7): c.1643dup (p.Arg549Alafs) duplication Pathogenic rs1555424684 GRCh37 Chromosome 15, 90190206: 90190206
39 KIF7 NM_198525.2(KIF7): c.2164G> T (p.Glu722Ter) single nucleotide variant Pathogenic rs1555424505 GRCh38 Chromosome 15, 89645040: 89645040
40 KIF7 NM_198525.2(KIF7): c.2164G> T (p.Glu722Ter) single nucleotide variant Pathogenic rs1555424505 GRCh37 Chromosome 15, 90188271: 90188271
41 KIF7 NM_198525.2(KIF7): c.2593-3C> G single nucleotide variant Pathogenic rs774403667 GRCh37 Chromosome 15, 90176500: 90176500
42 KIF7 NM_198525.2(KIF7): c.2593-3C> G single nucleotide variant Pathogenic rs774403667 GRCh38 Chromosome 15, 89633269: 89633269
43 KIF7 NM_198525.2(KIF7): c.423_428delACATGT (p.His142_Val143del) deletion Likely pathogenic rs1555425036 GRCh38 Chromosome 15, 89649842: 89649847
44 KIF7 NM_198525.2(KIF7): c.423_428delACATGT (p.His142_Val143del) deletion Likely pathogenic rs1555425036 GRCh37 Chromosome 15, 90193073: 90193078
45 SHH NM_000193.3(SHH): c.1282delG (p.Ala428Profs) deletion Uncertain significance rs1554493617 GRCh38 Chromosome 7, 155803007: 155803007
46 SHH NM_000193.3(SHH): c.1282delG (p.Ala428Profs) deletion Uncertain significance rs1554493617 GRCh37 Chromosome 7, 155595701: 155595701
47 KIF7 NM_198525.2(KIF7): c.2482G> A (p.Val828Met) single nucleotide variant Uncertain significance rs143915145 GRCh38 Chromosome 15, 89633796: 89633796
48 KIF7 NM_198525.2(KIF7): c.2482G> A (p.Val828Met) single nucleotide variant Uncertain significance rs143915145 GRCh37 Chromosome 15, 90177027: 90177027
49 KIF7 NM_198525.2(KIF7): c.719C> T (p.Pro240Leu) single nucleotide variant Uncertain significance rs886051539 GRCh37 Chromosome 15, 90192409: 90192409
50 KIF7 NM_198525.2(KIF7): c.719C> T (p.Pro240Leu) single nucleotide variant Uncertain significance rs886051539 GRCh38 Chromosome 15, 89649178: 89649178

Copy number variations for Acrocallosal Syndrome from CNVD:

7
# CNVD ID Chromosom 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:

38
# 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 collagen-containing extracellular matrix GO:0062023 9.26 L1CAM CTSC APOH SHH
2 ciliary tip GO:0097542 8.8 GLI3 KIF7 SUFU

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.87 GLI3 NOTCH1 SHH
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.83 GLI3 NOTCH1 SHH
3 lung development GO:0030324 9.82 GLI3 NOTCH1 SHH
4 determination of left/right symmetry GO:0007368 9.8 NOTCH1 SHH SUFU
5 forebrain development GO:0030900 9.8 GLI3 NOTCH1 SHH
6 camera-type eye development GO:0043010 9.79 GLI3 IHH SHH
7 smoothened signaling pathway GO:0007224 9.78 GLI3 IHH SHH
8 pattern specification process GO:0007389 9.77 GLI3 IHH SHH
9 embryonic digit morphogenesis GO:0042733 9.77 GLI3 IHH SHH
10 embryonic limb morphogenesis GO:0030326 9.76 GLI3 NOTCH1 SHH
11 positive regulation of smoothened signaling pathway GO:0045880 9.72 IHH KIF7 SHH
12 oligodendrocyte differentiation GO:0048709 9.71 GLI3 NOTCH1 SHH
13 T cell differentiation in thymus GO:0033077 9.7 GLI3 SHH
14 neuron fate commitment GO:0048663 9.7 GLI3 NOTCH1 SHH
15 developmental growth GO:0048589 9.69 GLI3 SHH
16 branching involved in blood vessel morphogenesis GO:0001569 9.69 IHH SHH
17 embryonic hindlimb morphogenesis GO:0035116 9.69 NOTCH1 SHH
18 pancreas development GO:0031016 9.68 IHH SHH
19 anatomical structure development GO:0048856 9.68 GLI3 SHH
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.68 IHH SHH
21 vasculature development GO:0001944 9.68 IHH SHH
22 hair follicle morphogenesis GO:0031069 9.67 NOTCH1 SHH
23 anatomical structure formation involved in morphogenesis GO:0048646 9.67 GLI3 SHH
24 embryonic pattern specification GO:0009880 9.67 IHH SHH
25 spinal cord motor neuron differentiation GO:0021522 9.66 GLI3 SHH
26 embryonic morphogenesis GO:0048598 9.65 GLI3 SHH
27 somite development GO:0061053 9.65 IHH SHH
28 prostate gland development GO:0030850 9.65 GLI3 SHH
29 branching morphogenesis of an epithelial tube GO:0048754 9.65 GLI3 NOTCH1 SHH
30 negative thymic T cell selection GO:0045060 9.64 GLI3 SHH
31 positive regulation of T cell differentiation in thymus GO:0033089 9.63 IHH SHH
32 negative regulation of smoothened signaling pathway GO:0045879 9.63 GLI3 KIF7 SUFU
33 artery development GO:0060840 9.62 GLI3 SHH
34 negative regulation of cell differentiation GO:0045596 9.62 GLI3 IHH NOTCH1 SHH
35 positive regulation of neuroblast proliferation GO:0002052 9.61 GLI3 NOTCH1 SHH
36 hindgut morphogenesis GO:0007442 9.58 GLI3 SHH
37 cell fate specification GO:0001708 9.58 IHH NOTCH1 SHH
38 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.57 GLI3 SUFU
39 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.56 GLI3 SUFU
40 heart looping GO:0001947 9.56 IHH NOTCH1 SHH SUFU
41 embryonic digestive tract morphogenesis GO:0048557 9.54 GLI3 IHH SHH
42 intein-mediated protein splicing GO:0016539 9.51 IHH SHH
43 regulation of epithelial cell proliferation involved in prostate gland development GO:0060768 9.49 NOTCH1 SHH
44 positive regulation of alpha-beta T cell differentiation GO:0046638 9.33 GLI3 IHH SHH
45 spinal cord dorsal/ventral patterning GO:0021513 9.13 GLI3 SHH SUFU
46 negative regulation of alpha-beta T cell differentiation GO:0046639 8.8 IHH GLI3 SHH

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 IHH SHH

Sources for Acrocallosal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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