MCID: ACR008
MIFTS: 57

Acrocallosal Syndrome

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

Aliases & Classifications for Acrocallosal Syndrome

MalaCards integrated aliases for Acrocallosal Syndrome:

Name: Acrocallosal Syndrome 57 12 53 25 59 75 37 13 55 44 15 73
Acrocallosal Syndrome, Schinzel Type 76 53 29 6 73
Schinzel Acrocallosal Syndrome 57 12 53 25 75
Joubert Syndrome 12 57 75 29 6 73
Acls 57 12 53 25 75
Schinzel Syndrome 1 12 53 25
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum 57 25
Acs 53 59
Absence of Corpus Callosum with Unusual Facial Appearance, Mental Deficiency, Duplication of the Halluces and Polydactyly 53
Hallux Duplication Postaxial Polydactyly and Absence of Corpus Callosum 75
Acrocallosal Syndrome; ) 40
Jbts12 75

Characteristics:

Orphanet epidemiological data:

59
acrocallosal syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

32
acrocallosal syndrome:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrocallosal Syndrome

NIH Rare Diseases : 53 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 angioedema induced by ace inhibitors and ritscher-schinzel syndrome 1, 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. Affiliated tissues include brain, bone and temporal lobe, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 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 : 75 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.

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.

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.

Wikipedia : 76 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 265)
# Related Disease Score Top Affiliating Genes
1 angioedema induced by ace inhibitors 12.4
2 ritscher-schinzel syndrome 1 12.3
3 saethre-chotzen syndrome 11.5
4 farber lipogranulomatosis 11.2
5 cerebral amyloid angiopathy, cst3-related 11.1
6 stroke, ischemic 11.1
7 hypoaldosteronism 11.1
8 apert syndrome 11.1
9 pfeiffer syndrome 11.1
10 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
11 auriculo-condylar syndrome 11.0
12 hydrolethalus syndrome 2 11.0
13 auriculocondylar syndrome 1 10.9
14 angioedema, hereditary, type i 10.8
15 fabry disease 10.8
16 glomerulopathy with fibronectin deposits 2 10.8
17 angular cheilitis 10.8
18 acrodermatitis 10.8
19 actinic cheilitis 10.8
20 fainting 10.8
21 syncope 10.8
22 pallister-hall syndrome 10.6 GLI3 KIF7
23 greig cephalopolysyndactyly syndrome 10.5 GLI3 KIF7
24 basal cell nevus syndrome 10.5 GLI3 KIF7 SUFU
25 myocardial infarction 10.4
26 borderline leprosy 10.3 APOH CD40LG
27 angioedema 10.3
28 viral exanthem 10.3 APOH CD40LG
29 microvascular complications of diabetes 3 10.3
30 microvascular complications of diabetes 4 10.3
31 microvascular complications of diabetes 6 10.3
32 microvascular complications of diabetes 7 10.3
33 livedoid vasculopathy 10.3 APOH CD40LG
34 granulomatous gastritis 10.3 CD40LG NOTCH1
35 erythema infectiosum 10.3 APOH CD40LG
36 brachial plexus neuritis 10.3 CD40LG NOTCH1
37 hypertension, essential 10.3
38 diabetes mellitus 10.3
39 endotheliitis 10.3
40 ischemia 10.3
41 sciatic neuropathy 10.2 NOTCH1 RFXANK
42 arteries, anomalies of 10.2
43 splenic disease 10.2 CD40LG RFXANK
44 catastrophic antiphospholipid syndrome 10.2 APOH CD40LG
45 coronary artery anomaly 10.2
46 acute myocardial infarction 10.2
47 heart disease 10.1
48 iga glomerulonephritis 10.1
49 kidney disease 10.1
50 congestive heart failure 10.1

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



Diseases related to Acrocallosal Syndrome

Symptoms & Phenotypes for Acrocallosal Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Acrocallosal Syndrome:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 very rare (1%) Very frequent (99-80%) HP:0000316
3 inguinal hernia 59 32 frequent (33%) Occasional (29-5%) HP:0000023
4 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
5 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
7 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
9 hypospadias 59 32 very rare (1%) Occasional (29-5%) HP:0000047
10 wide anterior fontanel 59 32 frequent (33%) Occasional (29-5%) HP:0000260
11 triphalangeal thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001199
12 abnormality of the clavicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000889
13 aplasia/hypoplasia of the corpus callosum 59 32 obligate (100%) Very frequent (99-80%) HP:0007370
14 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
15 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
16 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
17 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
18 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
19 agenesis of corpus callosum 32 HP:0001274
20 frontal bossing 32 very rare (1%) HP:0002007
21 finger syndactyly 32 frequent (33%) HP:0006101
22 high palate 32 very rare (1%) HP:0000218
23 nystagmus 32 occasional (7.5%) HP:0000639
24 intellectual disability 32 very rare (1%) HP:0001249
25 seizures 32 very rare (1%) HP:0001250
26 failure to thrive 32 frequent (33%) HP:0001508
27 hearing impairment 32 occasional (7.5%) HP:0000365
28 wide nasal bridge 32 very rare (1%) HP:0000431
29 umbilical hernia 32 frequent (33%) HP:0001537
30 short nose 32 frequent (33%) HP:0003196
31 smooth philtrum 32 very rare (1%) HP:0000319
32 optic atrophy 32 occasional (7.5%) HP:0000648
33 prominent forehead 32 HP:0011220
34 cleft palate 32 very rare (1%) HP:0000175
35 long philtrum 32 very rare (1%) HP:0000343
36 strabismus 32 occasional (7.5%) HP:0000486
37 epicanthus 32 frequent (33%) HP:0000286
38 growth delay 32 frequent (33%) HP:0001510
39 postnatal growth retardation 32 HP:0008897
40 abnormality of the pinna 32 very rare (1%) HP:0000377
41 broad forehead 32 frequent (33%) HP:0000337
42 short philtrum 32 very rare (1%) HP:0000322
43 clinodactyly of the 5th finger 32 HP:0004209
44 downslanted palpebral fissures 32 frequent (33%) HP:0000494
45 open mouth 32 very rare (1%) HP:0000194
46 brachydactyly 32 HP:0001156
47 anal atresia 32 HP:0002023
48 hypopigmentation of the fundus 32 HP:0007894
49 thin vermilion border 32 very rare (1%) HP:0000233
50 microretrognathia 32 very rare (1%) HP:0000308

UMLS symptoms related to Acrocallosal Syndrome:


seizures

MGI Mouse Phenotypes related to Acrocallosal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 CHST14 CTSC GLI3 IHH KIF7 L1CAM
2 craniofacial MP:0005382 9.95 GLI3 IHH KIF7 L1CAM NOTCH1 SUFU
3 embryo MP:0005380 9.91 GLI3 IHH KIF7 NOTCH1 PIR SCX
4 integument MP:0010771 9.86 CD40LG CHST14 CTSC GLI3 L1CAM NOTCH1
5 mortality/aging MP:0010768 9.7 NOTCH1 SCX SUFU ACLY APOH CD40LG
6 limbs/digits/tail MP:0005371 9.63 CHST14 GLI3 IHH KIF7 SCX SUFU
7 skeleton MP:0005390 9.28 CD40LG CHST14 GLI3 IHH KIF7 L1CAM

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 29 KIF7
2 Joubert Syndrome 12 29

Anatomical Context for Acrocallosal Syndrome

MalaCards organs/tissues related to Acrocallosal Syndrome:

41
Brain, Bone, Temporal Lobe, Heart, Pons, Medulla Oblongata, Cerebellum

Publications for Acrocallosal Syndrome

Articles related to Acrocallosal Syndrome:

(show top 50) (show all 60)
# Title Authors Year
1
Anaesthetising an infant with acrocallosal syndrome: An unusual case. ( 29910499 )
2018
2
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY. ( 26349186 )
2015
3
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. ( 26648833 )
2015
4
A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. ( 25714560 )
2015
5
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. ( 26174511 )
2015
6
The acrocallosal syndrome in a neonate with further widening of phenotypic expression. ( 24949054 )
2014
7
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. ( 23142271 )
2013
8
A de novo GLI3 mutation in a patient with acrocallosal syndrome. ( 23633388 )
2013
9
A large duplication involving the IHH locus mimics acrocallosal syndrome. ( 22234151 )
2012
10
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. ( 23125460 )
2012
11
Acrocallosal syndrome in a young hypertensive male. ( 22696705 )
2011
12
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. ( 21552264 )
2011
13
Acrocallosal syndrome: a case report and literature survey. ( 19619433 )
2009
14
An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. ( 18618999 )
2008
15
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. ( 18485929 )
2008
16
Anesthetic management of a child with acrocallosal syndrome. ( 18811850 )
2008
17
Acrocallosal syndrome in fetus: focus on additional brain abnormalities. ( 17593378 )
2008
18
Acrocallosal syndrome. ( 16582532 )
2006
19
Antenatally diagnosed acrocallosal syndrome with intact corpus callosum: second affected offspring. ( 16440888 )
2005
20
Brief report: acrocallosal syndrome and autism. ( 15679191 )
2004
21
Micropenis in a newborn with acrocallosal syndrome. ( 15287426 )
2004
22
Unilateral nystagmus in an infant with acrocallosal syndrome. ( 23377256 )
2004
23
Acrocallosal syndrome: report of five Turkish patients. ( 15365461 )
2004
24
Schinzel acrocallosal syndrome. ( 12661815 )
2003
25
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. ( 14608643 )
2003
26
Genetic counseling in acrocallosal syndrome. ( 12661814 )
2003
27
Diagnosing acrocallosal syndrome. ( 12661816 )
2003
28
Spectrum of the acrocallosal syndrome. ( 11857542 )
2002
29
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. ( 12414818 )
2002
30
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? ( 10756349 )
2000
31
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? ( 9220202 )
1997
32
Acrocallosal syndrome: a case report. ( 9195460 )
1997
33
The acrocallosal syndrome: expansion of the phenotypic spectrum. ( 8205323 )
1994
34
Severe acrocallosal syndrome or acromelic frontonasal dysplasia? ( 8080574 )
1994
35
Acrocallosal syndrome in two African brothers born to consanguineous parents. ( 8092201 )
1994
36
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? ( 8357003 )
1993
37
Acrocallosal syndrome and 12p. ( 8215222 )
1993
38
Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. ( 1491747 )
1992
39
Acrocallosal syndrome: report of a Brazilian girl. ( 1415343 )
1992
40
A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. ( 1499582 )
1992
41
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. ( 1610119 )
1992
42
The acrocallosal syndrome and Greig syndrome are not allelic disorders. ( 1404293 )
1992
43
Further delineation of the acrocallosal syndrome. ( 1659985 )
1991
44
Acrocallosal syndrome: a new case. ( 1887856 )
1991
45
The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. ( 2051463 )
1991
46
Could acrocallosal syndrome and Greig syndrome affect the same developmental gene? ( 2363442 )
1990
47
How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. ( 2103730 )
1990
48
Acrocallosal syndrome. ( 2309796 )
1990
49
The acrocallosal syndrome in a Turkish boy. ( 2308155 )
1990
50
Acrocallosal syndrome: new findings. ( 2729349 )
1989

Variations for Acrocallosal Syndrome

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

75
# 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 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF7 NM_198525.2(KIF7): c.2896_2897delGC (p.Ala966Profs) deletion Pathogenic rs752248403 GRCh38 Chromosome 15, 89631709: 89631710
2 KIF7 NM_198525.2(KIF7): c.2896_2897delGC (p.Ala966Profs) deletion Pathogenic rs752248403 GRCh37 Chromosome 15, 90174940: 90174941
3 KIF7 NM_198525.2(KIF7): c.460C> T (p.Arg154Ter) single nucleotide variant Pathogenic rs387907044 GRCh37 Chromosome 15, 90193041: 90193041
4 KIF7 NM_198525.2(KIF7): c.460C> T (p.Arg154Ter) single nucleotide variant Pathogenic rs387907044 GRCh38 Chromosome 15, 89649810: 89649810
5 KIF7 NM_198525.2(KIF7): c.3001C> T (p.Gln1001Ter) single nucleotide variant Pathogenic rs387907045 GRCh37 Chromosome 15, 90174836: 90174836
6 KIF7 NM_198525.2(KIF7): c.3001C> T (p.Gln1001Ter) single nucleotide variant Pathogenic rs387907045 GRCh38 Chromosome 15, 89631605: 89631605
7 KIF7 NM_198525.2(KIF7): c.587dupT (p.Glu197Glyfs) duplication Pathogenic rs797044463 GRCh38 Chromosome 15, 89649310: 89649310
8 KIF7 NM_198525.2(KIF7): c.587dupT (p.Glu197Glyfs) duplication Pathogenic rs797044463 GRCh37 Chromosome 15, 90192541: 90192541
9 KIF7 NM_198525.2(KIF7): c.687delG (p.Arg230Alafs) deletion Pathogenic rs797044464 GRCh38 Chromosome 15, 89649210: 89649210
10 KIF7 NM_198525.2(KIF7): c.687delG (p.Arg230Alafs) deletion Pathogenic rs797044464 GRCh37 Chromosome 15, 90192441: 90192441
11 KIF7 NM_198525.2(KIF7): c.217delG (p.Ala73Profs) deletion Pathogenic rs797044465 GRCh38 Chromosome 15, 89652714: 89652714
12 KIF7 NM_198525.2(KIF7): c.217delG (p.Ala73Profs) deletion Pathogenic rs797044465 GRCh37 Chromosome 15, 90195945: 90195945
13 KIF7 NM_198525.2(KIF7): c.811delG (p.Glu271Argfs) deletion Pathogenic rs797044466 GRCh37 Chromosome 15, 90192317: 90192317
14 KIF7 NM_198525.2(KIF7): c.811delG (p.Glu271Argfs) deletion Pathogenic rs797044466 GRCh38 Chromosome 15, 89649086: 89649086
15 KIF7 NM_198525.2(KIF7): c.2335G> C (p.Glu779Gln) single nucleotide variant Benign rs116823950 GRCh37 Chromosome 15, 90185493: 90185493
16 KIF7 NM_198525.2(KIF7): c.2335G> C (p.Glu779Gln) single nucleotide variant Benign rs116823950 GRCh38 Chromosome 15, 89642262: 89642262
17 KIF7 NM_198525.2(KIF7): c.2981A> G (p.Gln994Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138410949 GRCh37 Chromosome 15, 90174856: 90174856
18 KIF7 NM_198525.2(KIF7): c.2981A> G (p.Gln994Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138410949 GRCh38 Chromosome 15, 89631625: 89631625
19 KIF7 NM_198525.2(KIF7): c.3914G> A (p.Arg1305Gln) single nucleotide variant Uncertain significance rs138993311 GRCh38 Chromosome 15, 89628537: 89628537
20 KIF7 NM_198525.2(KIF7): c.3914G> A (p.Arg1305Gln) single nucleotide variant Uncertain significance rs138993311 GRCh37 Chromosome 15, 90171768: 90171768
21 KIF7 NM_198525.2(KIF7): c.3944C> T (p.Pro1315Leu) single nucleotide variant Likely benign rs150248985 GRCh37 Chromosome 15, 90171738: 90171738
22 KIF7 NM_198525.2(KIF7): c.3944C> T (p.Pro1315Leu) single nucleotide variant Likely benign rs150248985 GRCh38 Chromosome 15, 89628507: 89628507
23 KIF7 NM_198525.2(KIF7): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs794727316 GRCh37 Chromosome 15, 90196101: 90196101
24 KIF7 NM_198525.2(KIF7): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs794727316 GRCh38 Chromosome 15, 89652870: 89652870
25 KIF7 NM_198525.2(KIF7): c.336C> T (p.Leu112=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727530 GRCh37 Chromosome 15, 90193165: 90193165
26 KIF7 NM_198525.2(KIF7): c.336C> T (p.Leu112=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727530 GRCh38 Chromosome 15, 89649934: 89649934
27 KIF7 NM_198525.2(KIF7): c.1429G> A (p.Ala477Thr) single nucleotide variant Benign/Likely benign rs527804875 GRCh37 Chromosome 15, 90191500: 90191500
28 KIF7 NM_198525.2(KIF7): c.1429G> A (p.Ala477Thr) single nucleotide variant Benign/Likely benign rs527804875 GRCh38 Chromosome 15, 89648269: 89648269
29 KIF7 NM_198525.2(KIF7): c.1266C> G (p.Leu422=) single nucleotide variant Conflicting interpretations of pathogenicity rs8030837 GRCh37 Chromosome 15, 90191663: 90191663
30 KIF7 NM_198525.2(KIF7): c.1266C> G (p.Leu422=) single nucleotide variant Conflicting interpretations of pathogenicity rs8030837 GRCh38 Chromosome 15, 89648432: 89648432
31 KIF7 NM_198525.2(KIF7): c.2944G> T (p.Glu982Ter) single nucleotide variant Pathogenic rs797045093 GRCh38 Chromosome 15, 89631662: 89631662
32 KIF7 NM_198525.2(KIF7): c.2944G> T (p.Glu982Ter) single nucleotide variant Pathogenic rs797045093 GRCh37 Chromosome 15, 90174893: 90174893
33 KIF7 NM_198525.2(KIF7): c.3331C> T (p.Arg1111Ter) single nucleotide variant Pathogenic rs778139192 GRCh38 Chromosome 15, 89629561: 89629561
34 KIF7 NM_198525.2(KIF7): c.3331C> T (p.Arg1111Ter) single nucleotide variant Pathogenic rs778139192 GRCh37 Chromosome 15, 90172792: 90172792
35 KIF7 NM_198525.2(KIF7): c.2917C> T (p.Arg973Ter) single nucleotide variant Pathogenic rs202229910 GRCh38 Chromosome 15, 89631689: 89631689
36 KIF7 NM_198525.2(KIF7): c.2917C> T (p.Arg973Ter) single nucleotide variant Pathogenic rs202229910 GRCh37 Chromosome 15, 90174920: 90174920
37 KIF7 NM_198525.2(KIF7): c.2501A> G (p.Gln834Arg) single nucleotide variant Benign/Likely benign rs138354681 GRCh38 Chromosome 15, 89633777: 89633777
38 KIF7 NM_198525.2(KIF7): c.2501A> G (p.Gln834Arg) single nucleotide variant Benign/Likely benign rs138354681 GRCh37 Chromosome 15, 90177008: 90177008
39 KIF7 NM_198525.2(KIF7): c.3960T> A (p.Pro1320=) single nucleotide variant Conflicting interpretations of pathogenicity rs141028210 GRCh38 Chromosome 15, 89628491: 89628491
40 KIF7 NM_198525.2(KIF7): c.3960T> A (p.Pro1320=) single nucleotide variant Conflicting interpretations of pathogenicity rs141028210 GRCh37 Chromosome 15, 90171722: 90171722
41 KIF7 NM_198525.2(KIF7): c.3112-11_3112-10insCT insertion Benign rs35820949 GRCh38 Chromosome 15, 89630503: 89630504
42 KIF7 NM_198525.2(KIF7): c.3112-11_3112-10insCT insertion Benign rs35820949 GRCh37 Chromosome 15, 90173734: 90173735
43 KIF7 NM_198525.2(KIF7): c.2192-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201251064 GRCh38 Chromosome 15, 89642418: 89642418
44 KIF7 NM_198525.2(KIF7): c.2192-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201251064 GRCh37 Chromosome 15, 90185649: 90185649
45 KIF7 NM_198525.2(KIF7): c.1788+13T> C single nucleotide variant Benign rs1110060 GRCh38 Chromosome 15, 89646817: 89646817
46 KIF7 NM_198525.2(KIF7): c.1788+13T> C single nucleotide variant Benign rs1110060 GRCh37 Chromosome 15, 90190048: 90190048
47 KIF7 NM_198525.2(KIF7): c.294A> G (p.Ser98=) single nucleotide variant Conflicting interpretations of pathogenicity rs145049849 GRCh38 Chromosome 15, 89652637: 89652637
48 KIF7 NM_198525.2(KIF7): c.294A> G (p.Ser98=) single nucleotide variant Conflicting interpretations of pathogenicity rs145049849 GRCh37 Chromosome 15, 90195868: 90195868
49 KIF7 NM_198525.2(KIF7): c.1189G> A (p.Ala397Thr) single nucleotide variant Benign/Likely benign rs535621809 GRCh37 Chromosome 15, 90191740: 90191740
50 KIF7 NM_198525.2(KIF7): c.1189G> A (p.Ala397Thr) single nucleotide variant Benign/Likely benign rs535621809 GRCh38 Chromosome 15, 89648509: 89648509

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:

37
# 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
11.8 GLI3 IHH KIF7 SUFU
2
Show member pathways
11.51 GLI3 KIF7 SUFU
3
Show member pathways
11.03 GLI3 IHH KIF7 SUFU

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 ciliary base GO:0097546 8.96 GLI3 SUFU
2 ciliary tip GO:0097542 8.8 GLI3 KIF7 SUFU

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell differentiation GO:0045596 9.58 GLI3 IHH NOTCH1
2 oligodendrocyte differentiation GO:0048709 9.56 GLI3 NOTCH1
3 positive regulation of smoothened signaling pathway GO:0045880 9.55 IHH KIF7
4 branching morphogenesis of an epithelial tube GO:0048754 9.54 GLI3 NOTCH1
5 heart looping GO:0001947 9.54 IHH NOTCH1 SUFU
6 neuron fate commitment GO:0048663 9.52 GLI3 NOTCH1
7 positive regulation of collagen biosynthetic process GO:0032967 9.51 IHH SCX
8 positive regulation of neuroblast proliferation GO:0002052 9.49 GLI3 NOTCH1
9 cell fate specification GO:0001708 9.48 IHH NOTCH1
10 embryonic digestive tract morphogenesis GO:0048557 9.46 GLI3 IHH
11 positive regulation of alpha-beta T cell differentiation GO:0046638 9.43 GLI3 IHH
12 spinal cord dorsal/ventral patterning GO:0021513 9.32 GLI3 SUFU
13 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.26 GLI3 SUFU
14 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.16 GLI3 SUFU
15 negative regulation of alpha-beta T cell differentiation GO:0046639 8.96 GLI3 IHH
16 negative regulation of smoothened signaling pathway GO:0045879 8.8 GLI3 KIF7 SUFU

Sources for Acrocallosal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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