MCID: ACR008
MIFTS: 55

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 54 12 50 24 25 56 71 13 52 42 14 69
Schinzel Acrocallosal Syndrome 12 50 25 71
Joubert Syndrome 12 54 71 29 69
Acls 12 50 25 71
Acrocallosal Syndrome, Schinzel Type 50 29 69
Schinzel Syndrome 1 12 50 25
Acs 50 56
Absence of Corpus Callosum with Unusual Facial Appearance, Mental Deficiency, Duplication of the Halluces and Polydactyly 50
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum 25
Hallux Duplication Postaxial Polydactyly and Absence of Corpus Callosum 71
Jbts12 71

Characteristics:

Orphanet epidemiological data:

56
acrocallosal syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
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 : 50 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 intellectual disability, severe, hypertelorism and hypospadias. An important gene associated with Acrocallosal Syndrome is KIF7 (Kinesin Family Member 7), and among its related pathways/superpathways are Hedgehog Pathway and Primary immunodeficiency. Affiliated tissues include brain, bone and temporal lobe, and related phenotypes are growth/size/body region and craniofacial

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 : 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.

OMIM : 54
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)

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 180)
id Related Disease Score Top Affiliating Genes
1 angioedema induced by ace inhibitors 12.3
2 ritscher-schinzel syndrome 1 12.2
3 renal tubular dysgenesis, ace-related 11.9
4 saethre-chotzen syndrome 11.3
5 hypoaldosteronism 11.0
6 apert syndrome 11.0
7 farber lipogranulomatosis 11.0
8 pfeiffer syndrome 10.9
9 kif7-related joubert syndrome 10.9
10 auriculo-condylar syndrome 10.9
11 hydrolethalus syndrome 2 10.9
12 acral dystrophic epidermolysis bullosa 10.7
13 auriculocondylar syndrome 1 10.7
14 spondylometaepiphyseal dysplasia, short limb-hand type 10.7
15 glomerulopathy with fibronectin deposits 2 10.7
16 angular cheilitis 10.7
17 syncope 10.7
18 angioedema, hereditary, types i and ii 10.7
19 acdc 10.7
20 actinic cheilitis 10.7
21 stroke, ischemic 10.7
22 fabry disease 10.7
23 acrodermatitis 10.7
24 fainting 10.7
25 gnas hyperfunction 10.6 GLI3 KIF7
26 pallister-hall syndrome 10.6 GLI3 KIF7
27 brain compression 10.4 NOTCH1 RFXANK
28 polydactyly, preaxial, type iv 10.4 GLI3 KIF7
29 brown's tendon sheath syndrome 10.3 APOH CD40LG
30 myocardial infarction 10.3
31 alcoholic gastritis 10.3 APOH CD40LG
32 muscle cancer 10.3 CD40LG NOTCH1
33 lockwood feingold syndrome 10.3 APOH CD40LG
34 rubella 10.3 APOH CD40LG
35 angioedema 10.3
36 anal colloid adenocarcinoma 10.3 CD40LG NOTCH1
37 hypotrichosis 4 10.3 ACLY APOH
38 chronic inflammatory demyelinating polyneuritis 10.2 CD40LG RFXANK
39 cavernous lymphangioma 10.2 APOH CD40LG
40 endotheliitis 10.2
41 artery disease 10.2
42 coronary artery disease 10.1
43 acute myocardial infarction 10.1
44 trench fever 10.1 CD40LG NOTCH1
45 heart disease 10.1
46 congestive heart failure 10.1
47 kidney disease 10.0
48 esotropia 10.0
49 atherosclerosis 10.0
50 blood group incompatibility 10.0 APOH CD40LG

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:

54

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

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

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Nose:
small nose
broad nasal bridge

Skeletal- Feet:
toe syndactyly
preaxial or postaxial polydactyly
duplicated halluces

Abdomen- Gastroin testinal:
imperforate anus
rectovaginal fistula

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

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

Abdomen- External Features:
umbilical hernia

Head And Neck- Face:
prominent forehead
short philtrum
hypoplastic midface

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

Cardiovascular- Heart:
septal defects
pulmonary valve defects

Growth- Other:
postnatal growth retardation

Genitourinary- Internal Genitalia Female:
rectovaginal fistula


Clinical features from OMIM:

200990

Human phenotypes related to Acrocallosal Syndrome:

56 32 (show top 50) (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
2 hypertelorism 56 32 very rare (1%) Very frequent (99-80%) HP:0000316
3 hypospadias 56 32 very rare (1%) Occasional (29-5%) HP:0000047
4 sloping forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000340
5 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
6 macrocephaly 56 32 very rare (1%) Very frequent (99-80%) HP:0000256
7 inguinal hernia 56 32 frequent (33%) Occasional (29-5%) HP:0000023
8 dandy-walker malformation 56 32 frequent (33%) Frequent (79-30%) HP:0001305
9 wide anterior fontanel 56 32 frequent (33%) Occasional (29-5%) HP:0000260
10 tall stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0000098
11 prominent occiput 56 32 frequent (33%) Frequent (79-30%) HP:0000269
12 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
13 triphalangeal thumb 56 32 frequent (33%) Frequent (79-30%) HP:0001199
14 congenital diaphragmatic hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000776
15 aplasia/hypoplasia of the cerebellum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007360
16 abnormality of the clavicle 56 32 occasional (7.5%) Occasional (29-5%) HP:0000889
17 aplasia/hypoplasia of the corpus callosum 56 32 obligate (100%) Very frequent (99-80%) HP:0007370
18 postaxial hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001162
19 failure to thrive 32 frequent (33%) HP:0001508
20 brachydactyly 32 HP:0001156
21 optic atrophy 32 occasional (7.5%) HP:0000648
22 nystagmus 32 occasional (7.5%) HP:0000639
23 strabismus 32 occasional (7.5%) HP:0000486
24 umbilical hernia 32 frequent (33%) HP:0001537
25 seizures 32 very rare (1%) HP:0001250
26 micropenis 32 occasional (7.5%) HP:0000054
27 prominent forehead 32 HP:0011220
28 cleft palate 32 very rare (1%) HP:0000175
29 coloboma 32 occasional (7.5%) HP:0000589
30 frontal bossing 32 very rare (1%) HP:0002007
31 posteriorly rotated ears 32 occasional (7.5%) HP:0000358
32 short nose 32 frequent (33%) HP:0003196
33 short philtrum 32 very rare (1%) HP:0000322
34 broad forehead 32 frequent (33%) HP:0000337
35 intellectual disability 32 very rare (1%) HP:0001249
36 thin vermilion border 32 very rare (1%) HP:0000233
37 long philtrum 32 very rare (1%) HP:0000343
38 microretrognathia 32 very rare (1%) HP:0000308
39 agenesis of corpus callosum 32 HP:0001274
40 wide nasal bridge 32 very rare (1%) HP:0000431
41 open mouth 32 very rare (1%) HP:0000194
42 finger syndactyly 32 frequent (33%) HP:0006101
43 toe syndactyly 32 frequent (33%) HP:0001770
44 downslanted palpebral fissures 32 frequent (33%) HP:0000494
45 high palate 32 very rare (1%) HP:0000218
46 postnatal growth retardation 32 HP:0008897
47 generalized hypotonia 32 very rare (1%) HP:0001290
48 smooth philtrum 32 very rare (1%) HP:0000319
49 epicanthus 32 frequent (33%) HP:0000286
50 preauricular skin tag 32 frequent (33%) HP:0000384

UMLS symptoms related to Acrocallosal Syndrome:


seizures

MGI Mouse Phenotypes related to Acrocallosal Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 SCX CHST14 CTSC GLI3 IHH KIF7
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 KIF7 L1CAM NOTCH1 SCX CD40LG CHST14

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:

id Genetic test Affiliating Genes
1 Acrocallosal Syndrome, Schinzel Type 29
2 Joubert Syndrome 12 29
3 Acrocallosal Syndrome 24 KIF7

Anatomical Context for Acrocallosal Syndrome

MalaCards organs/tissues related to Acrocallosal Syndrome:

39
Brain, Bone, Temporal Lobe, Heart, Pons, Medulla Oblongata, Cerebellum

Publications for Acrocallosal Syndrome

Articles related to Acrocallosal Syndrome:

(show top 50) (show all 59)
id Title Authors Year
1
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY. ( 26349186 )
2015
2
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. ( 26174511 )
2015
3
A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. ( 25714560 )
2015
4
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. ( 26648833 )
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
A large duplication involving the IHH locus mimics acrocallosal syndrome. ( 22234151 )
2012
9
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. ( 23125460 )
2012
10
Acrocallosal syndrome in a young hypertensive male. ( 22696705 )
2011
11
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. ( 21552264 )
2011
12
Acrocallosal syndrome: a case report and literature survey. ( 19619433 )
2009
13
An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. ( 18618999 )
2008
14
Anesthetic management of a child with acrocallosal syndrome. ( 18811850 )
2008
15
Acrocallosal syndrome in fetus: focus on additional brain abnormalities. ( 17593378 )
2008
16
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. ( 18485929 )
2008
17
Acrocallosal syndrome. ( 16582532 )
2006
18
Antenatally diagnosed acrocallosal syndrome with intact corpus callosum: second affected offspring. ( 16440888 )
2005
19
Brief report: acrocallosal syndrome and autism. ( 15679191 )
2004
20
Unilateral nystagmus in an infant with acrocallosal syndrome. ( 23377256 )
2004
21
Acrocallosal syndrome: report of five Turkish patients. ( 15365461 )
2004
22
Micropenis in a newborn with acrocallosal syndrome. ( 15287426 )
2004
23
Diagnosing acrocallosal syndrome. ( 12661816 )
2003
24
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. ( 14608643 )
2003
25
Genetic counseling in acrocallosal syndrome. ( 12661814 )
2003
26
Schinzel acrocallosal syndrome. ( 12661815 )
2003
27
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. ( 12414818 )
2002
28
Spectrum of the acrocallosal syndrome. ( 11857542 )
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
A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. ( 1499582 )
1992
38
Acrocallosal syndrome: report of a Brazilian girl. ( 1415343 )
1992
39
Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. ( 1491747 )
1992
40
The acrocallosal syndrome and Greig syndrome are not allelic disorders. ( 1404293 )
1992
41
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. ( 1610119 )
1992
42
Acrocallosal syndrome: a new case. ( 1887856 )
1991
43
The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. ( 2051463 )
1991
44
Further delineation of the acrocallosal syndrome. ( 1659985 )
1991
45
Could acrocallosal syndrome and Greig syndrome affect the same developmental gene? ( 2363442 )
1990
46
The acrocallosal syndrome in a Turkish boy. ( 2308155 )
1990
47
Acrocallosal syndrome. ( 2309796 )
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
Acrocallosal syndrome in a girl born to consanguineous parents. ( 2729348 )
1989

Variations for Acrocallosal Syndrome

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

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

ClinVar genetic disease variations for Acrocallosal Syndrome:

6 (show all 11)
id 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

Copy number variations for Acrocallosal Syndrome from CNVD:

7
id 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 GeneCards Suite gene sharing:

id 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 12)
id Name GO ID Score Top Affiliating Genes
1 oligodendrocyte differentiation GO:0048709 9.51 GLI3 NOTCH1
2 neuron fate commitment GO:0048663 9.49 GLI3 NOTCH1
3 branching morphogenesis of an epithelial tube GO:0048754 9.48 GLI3 NOTCH1
4 positive regulation of smoothened signaling pathway GO:0045880 9.46 IHH KIF7
5 positive regulation of collagen biosynthetic process GO:0032967 9.43 IHH SCX
6 positive regulation of neuroblast proliferation GO:0002052 9.4 GLI3 NOTCH1
7 negative regulation of smoothened signaling pathway GO:0045879 9.37 GLI3 KIF7
8 embryonic digestive tract morphogenesis GO:0048557 9.32 GLI3 IHH
9 cell fate specification GO:0001708 9.26 IHH NOTCH1
10 positive regulation of alpha-beta T cell differentiation GO:0046638 9.16 GLI3 IHH
11 negative regulation of cell differentiation GO:0045596 8.96 GLI3 NOTCH1
12 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....