MCID: ACR008
MIFTS: 56

Acrocallosal Syndrome

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

Aliases & Classifications for Acrocallosal Syndrome

MalaCards integrated aliases for Acrocallosal Syndrome:

Name: Acrocallosal Syndrome 53 12 49 24 55 71 36 13 51 41 14 69
Schinzel Acrocallosal Syndrome 53 12 49 24 71
Acls 53 12 49 24 71
Acrocallosal Syndrome, Schinzel Type 72 49 28 69
Joubert Syndrome 12 53 71 28 69
Schinzel Syndrome 1 12 49 24
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum 53 24
Acs 49 55
Absence of Corpus Callosum with Unusual Facial Appearance, Mental Deficiency, Duplication of the Halluces and Polydactyly 49
Hallux Duplication Postaxial Polydactyly and Absence of Corpus Callosum 71
Jbts12 71

Characteristics:

Orphanet epidemiological data:

55
acrocallosal syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

31
acrocallosal syndrome:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrocallosal Syndrome

NIH Rare Diseases : 49 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. Last updated: 11/2/2011

MalaCards based summary : Acrocallosal Syndrome, also known as schinzel acrocallosal syndrome, is related to angioedema induced by ace inhibitors and ritscher-schinzel syndrome 1, and has symptoms including macrocephaly, hypertelorism and inguinal hernia. An important gene associated with Acrocallosal Syndrome is KIF7 (Kinesin Family Member 7), and among its related pathways/superpathways are Hedgehog signaling pathway and Hedgehog Pathway. Affiliated tissues include brain, bone and temporal lobe, and related phenotypes are growth/size/body region and craniofacial

OMIM : 53 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 : 71 Acrocallosal syndrome: A 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 : 24 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 : 72 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 228)
# 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 stroke, ischemic 11.1
6 hypoaldosteronism 11.1
7 apert syndrome 11.1
8 pfeiffer syndrome 11.1
9 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
10 auriculo-condylar syndrome 11.0
11 hydrolethalus syndrome 2 11.0
12 auriculocondylar syndrome 1 10.9
13 angioedema, hereditary, type i 10.8
14 fabry disease 10.8
15 glomerulopathy with fibronectin deposits 2 10.8
16 angular cheilitis 10.8
17 acrodermatitis 10.8
18 actinic cheilitis 10.8
19 fainting 10.8
20 syncope 10.8
21 greig cephalopolysyndactyly syndrome 10.4 GLI3 KIF7
22 myocardial infarction 10.4
23 angioedema 10.3
24 microvascular complications of diabetes 3 10.3
25 microvascular complications of diabetes 4 10.3
26 microvascular complications of diabetes 6 10.3
27 microvascular complications of diabetes 7 10.3
28 hypertension, essential 10.3
29 diabetes mellitus 10.3
30 endotheliitis 10.2
31 sciatic neuropathy 10.2 NOTCH1 RFXANK
32 pallister-hall syndrome 10.2 GLI3 KIF7
33 arteries, anomalies of 10.2
34 blood group, i system 10.2
35 coronary artery anomaly 10.2
36 acute myocardial infarction 10.2
37 borderline leprosy 10.2 APOH CD40LG
38 viral exanthem 10.2 APOH CD40LG
39 livedoid vasculopathy 10.2 APOH CD40LG
40 granulomatous gastritis 10.1 CD40LG NOTCH1
41 erythema infectiosum 10.1 APOH CD40LG
42 brachial plexus neuritis 10.1 CD40LG NOTCH1
43 heart disease 10.1
44 congestive heart failure 10.1
45 atrichia with papular lesions 10.1 ACLY APOH
46 kidney disease 10.1
47 splenic disease 10.1 CD40LG RFXANK
48 catastrophic antiphospholipid syndrome 10.1 APOH CD40LG
49 alzheimer disease 10.1
50 aging 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:

53
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 Eyes:
hypertelorism
nystagmus
optic atrophy
strabismus
downslanting palpebral fissures
more
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 Gastroin testinal:
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 Head:
macrocephaly
prominent occiput
large anterior fontanel

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

Human phenotypes related to Acrocallosal Syndrome:

55 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 very rare (1%) Very frequent (99-80%) HP:0000256
2 hypertelorism 55 31 very rare (1%) Very frequent (99-80%) HP:0000316
3 inguinal hernia 55 31 frequent (33%) Occasional (29-5%) HP:0000023
4 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
5 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 prominent occiput 55 31 frequent (33%) Frequent (79-30%) HP:0000269
7 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
8 aplasia/hypoplasia of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007360
9 hypospadias 55 31 very rare (1%) Occasional (29-5%) HP:0000047
10 wide anterior fontanel 55 31 frequent (33%) Occasional (29-5%) HP:0000260
11 triphalangeal thumb 55 31 frequent (33%) Frequent (79-30%) HP:0001199
12 abnormality of the clavicle 55 31 occasional (7.5%) Occasional (29-5%) HP:0000889
13 aplasia/hypoplasia of the corpus callosum 55 31 obligate (100%) Very frequent (99-80%) HP:0007370
14 tall stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0000098
15 postaxial hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001162
16 sloping forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000340
17 dandy-walker malformation 55 31 frequent (33%) Frequent (79-30%) HP:0001305
18 congenital diaphragmatic hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000776
19 seizures 31 very rare (1%) HP:0001250
20 agenesis of corpus callosum 31 HP:0001274
21 frontal bossing 31 very rare (1%) HP:0002007
22 finger syndactyly 31 frequent (33%) HP:0006101
23 high palate 31 very rare (1%) HP:0000218
24 nystagmus 31 occasional (7.5%) HP:0000639
25 intellectual disability 31 very rare (1%) HP:0001249
26 failure to thrive 31 frequent (33%) HP:0001508
27 hearing impairment 31 occasional (7.5%) HP:0000365
28 wide nasal bridge 31 very rare (1%) HP:0000431
29 umbilical hernia 31 frequent (33%) HP:0001537
30 short nose 31 frequent (33%) HP:0003196
31 smooth philtrum 31 very rare (1%) HP:0000319
32 optic atrophy 31 occasional (7.5%) HP:0000648
33 prominent forehead 31 HP:0011220
34 cleft palate 31 very rare (1%) HP:0000175
35 long philtrum 31 very rare (1%) HP:0000343
36 strabismus 31 occasional (7.5%) HP:0000486
37 epicanthus 31 frequent (33%) HP:0000286
38 growth delay 31 frequent (33%) HP:0001510
39 postnatal growth retardation 31 HP:0008897
40 abnormality of the pinna 31 very rare (1%) HP:0000377
41 broad forehead 31 frequent (33%) HP:0000337
42 short philtrum 31 very rare (1%) HP:0000322
43 clinodactyly of the 5th finger 31 HP:0004209
44 downslanted palpebral fissures 31 frequent (33%) HP:0000494
45 open mouth 31 very rare (1%) HP:0000194
46 brachydactyly 31 HP:0001156
47 anal atresia 31 HP:0002023
48 hypopigmentation of the fundus 31 HP:0007894
49 thin vermilion border 31 very rare (1%) HP:0000233
50 microretrognathia 31 very rare (1%) HP:0000308

UMLS symptoms related to Acrocallosal Syndrome:


seizures

MGI Mouse Phenotypes related to Acrocallosal Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 CHST14 CTSC GLI3 IHH KIF7 L1CAM
2 craniofacial MP:0005382 9.73 CHST14 GLI3 IHH KIF7 L1CAM NOTCH1
3 mortality/aging MP:0010768 9.65 ACLY APOH CD40LG CHST14 GLI3 IHH
4 skeleton MP:0005390 9.23 NOTCH1 SCX CD40LG CHST14 GLI3 IHH

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 28 KIF7
2 Joubert Syndrome 12 28

Anatomical Context for Acrocallosal Syndrome

MalaCards organs/tissues related to Acrocallosal Syndrome:

38
Brain, Bone, Temporal Lobe, Heart, Pons, Medulla Oblongata, Cerebellum

Publications for Acrocallosal Syndrome

Articles related to Acrocallosal Syndrome:

(show top 50) (show all 59)
# Title Authors Year
1
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. ( 26174511 )
2015
2
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. ( 26648833 )
2015
3
A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. ( 25714560 )
2015
4
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY. ( 26349186 )
2015
5
The acrocallosal syndrome in a neonate with further widening of phenotypic expression. ( 24949054 )
2014
6
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. ( 23142271 )
2013
7
A de novo GLI3 mutation in a patient with acrocallosal syndrome. ( 23633388 )
2013
8
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. ( 23125460 )
2012
9
A large duplication involving the IHH locus mimics acrocallosal syndrome. ( 22234151 )
2012
10
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. ( 21552264 )
2011
11
Acrocallosal syndrome in a young hypertensive male. ( 22696705 )
2011
12
Acrocallosal syndrome: a case report and literature survey. ( 19619433 )
2009
13
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. ( 18485929 )
2008
14
Acrocallosal syndrome in fetus: focus on additional brain abnormalities. ( 17593378 )
2008
15
An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. ( 18618999 )
2008
16
Anesthetic management of a child with acrocallosal syndrome. ( 18811850 )
2008
17
Acrocallosal syndrome. ( 16582532 )
2006
18
Antenatally diagnosed acrocallosal syndrome with intact corpus callosum: second affected offspring. ( 16440888 )
2005
19
Micropenis in a newborn with acrocallosal syndrome. ( 15287426 )
2004
20
Brief report: acrocallosal syndrome and autism. ( 15679191 )
2004
21
Unilateral nystagmus in an infant with acrocallosal syndrome. ( 23377256 )
2004
22
Acrocallosal syndrome: report of five Turkish patients. ( 15365461 )
2004
23
Diagnosing acrocallosal syndrome. ( 12661816 )
2003
24
Schinzel acrocallosal syndrome. ( 12661815 )
2003
25
Genetic counseling in acrocallosal syndrome. ( 12661814 )
2003
26
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. ( 14608643 )
2003
27
Spectrum of the acrocallosal syndrome. ( 11857542 )
2002
28
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. ( 12414818 )
2002
29
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? ( 10756349 )
2000
30
Acrocallosal syndrome: a case report. ( 9195460 )
1997
31
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? ( 9220202 )
1997
32
The acrocallosal syndrome: expansion of the phenotypic spectrum. ( 8205323 )
1994
33
Acrocallosal syndrome in two African brothers born to consanguineous parents. ( 8092201 )
1994
34
Severe acrocallosal syndrome or acromelic frontonasal dysplasia? ( 8080574 )
1994
35
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? ( 8357003 )
1993
36
Acrocallosal syndrome and 12p. ( 8215222 )
1993
37
The acrocallosal syndrome and Greig syndrome are not allelic disorders. ( 1404293 )
1992
38
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. ( 1610119 )
1992
39
Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. ( 1491747 )
1992
40
Acrocallosal syndrome: report of a Brazilian girl. ( 1415343 )
1992
41
A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. ( 1499582 )
1992
42
Further delineation of the acrocallosal syndrome. ( 1659985 )
1991
43
Acrocallosal syndrome: a new case. ( 1887856 )
1991
44
The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. ( 2051463 )
1991
45
Acrocallosal syndrome. ( 2309796 )
1990
46
The acrocallosal syndrome in a Turkish boy. ( 2308155 )
1990
47
Could acrocallosal syndrome and Greig syndrome affect the same developmental gene? ( 2363442 )
1990
48
How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. ( 2103730 )
1990
49
Acrocallosal syndrome: new findings. ( 2729349 )
1989
50
Hypogenitalism in the acrocallosal syndrome. ( 2658583 )
1989

Variations for Acrocallosal Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 KIF7 p.Arg702Gln VAR_066452 rs149078926

ClinVar genetic disease variations for Acrocallosal Syndrome:

6 (show all 12)
# 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.460C> T (p.Arg154Ter) single nucleotide variant Pathogenic rs387907044 GRCh37 Chromosome 15, 90193041: 90193041
3 KIF7 NM_198525.2(KIF7): c.3001C> T (p.Gln1001Ter) single nucleotide variant Pathogenic rs387907045 GRCh37 Chromosome 15, 90174836: 90174836
4 KIF7 NM_198525.2(KIF7): c.587dupT (p.Glu197Glyfs) duplication Pathogenic rs797044463 GRCh38 Chromosome 15, 89649310: 89649310
5 KIF7 NM_198525.2(KIF7): c.687delG (p.Arg230Alafs) deletion Pathogenic rs797044464 GRCh38 Chromosome 15, 89649210: 89649210
6 KIF7 NM_198525.2(KIF7): c.217delG (p.Ala73Profs) deletion Pathogenic rs797044465 GRCh38 Chromosome 15, 89652714: 89652714
7 KIF7 NM_198525.2(KIF7): c.811delG (p.Glu271Argfs) deletion Pathogenic rs797044466 GRCh37 Chromosome 15, 90192317: 90192317
8 KIF7 NM_198525.2(KIF7): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs794727316 GRCh37 Chromosome 15, 90196101: 90196101
9 KIF7 NM_198525.2(KIF7): c.2944G> T (p.Glu982Ter) single nucleotide variant Pathogenic rs797045093 GRCh38 Chromosome 15, 89631662: 89631662
10 KIF7 NM_198525.2(KIF7): c.3331C> T (p.Arg1111Ter) single nucleotide variant Pathogenic rs778139192 GRCh38 Chromosome 15, 89629561: 89629561
11 KIF7 NM_198525.2(KIF7): c.2917C> T (p.Arg973Ter) single nucleotide variant Pathogenic rs202229910 GRCh38 Chromosome 15, 89631689: 89631689
12 KIF7 NM_198525.2(KIF7): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs569323391 GRCh37 Chromosome 15, 90196005: 90196005

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:

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
10.91 GLI3 IHH KIF7
2 10.52 CD40LG RFXANK

GO Terms for Acrocallosal Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.71 GLI3 IHH NOTCH1
2 liver regeneration GO:0097421 9.52 GLI3 IHH
3 oligodendrocyte differentiation GO:0048709 9.51 GLI3 NOTCH1
4 neuron fate commitment GO:0048663 9.49 GLI3 NOTCH1
5 branching morphogenesis of an epithelial tube GO:0048754 9.48 GLI3 NOTCH1
6 positive regulation of smoothened signaling pathway GO:0045880 9.46 IHH KIF7
7 positive regulation of collagen biosynthetic process GO:0032967 9.43 IHH SCX
8 negative regulation of smoothened signaling pathway GO:0045879 9.4 GLI3 KIF7
9 positive regulation of neuroblast proliferation GO:0002052 9.37 GLI3 NOTCH1
10 embryonic digestive tract morphogenesis GO:0048557 9.32 GLI3 IHH
11 cell fate specification GO:0001708 9.26 IHH NOTCH1
12 positive regulation of alpha-beta T cell differentiation GO:0046638 9.16 GLI3 IHH
13 negative regulation of cell differentiation GO:0045596 9.13 GLI3 IHH NOTCH1
14 negative regulation of alpha-beta T cell differentiation GO:0046639 8.62 GLI3 IHH

Sources for Acrocallosal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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