Details of Disease | DrugMAP

General Information of Disease (ID: DISKMCG2)

Disease Name	Acrocallosal syndrome
Synonyms	Joubert syndrome 12/15, digenic; acrocallosal syndrome, Schinzel type; Joubert syndrome 12; hallux Duplication, postaxial polydactyly, and absence of corpus callosum; absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly; Schinzel syndrome 1; ACLS; Schinzel acrocallosal syndrome; acrocallosal syndrome; ACS
Definition	Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISFLSDF: Polydactyly-syndactyly-triphalangism DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISF9ZRZ: KIF7-related ciliopathy DISKMCG2: Acrocallosal syndrome
Disease Identifiers	MONDO ID MONDO_0008708 MESH ID D055673 UMLS CUI C0796147 OMIM ID 200990 MedGen ID 162915 Orphanet ID 36 SNOMED CT ID 715951007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLI3	OTKDOE94	Supportive	Autosomal recessive	[1]
FOXG1	OTAW57J4	moderate	Biomarker	[2]
BBS2	OTPF9JIB	Strong	Genetic Variation	[3]
BBS4	OT0D3JC0	Strong	Genetic Variation	[3]
TICRR	OT2HKWOC	Strong	Genetic Variation	[4]
KIF7	OT1J6NAW	Definitive	Autosomal recessive	[5]
SUFU	OT0IRYG1	Definitive	GermlineCausalMutation	[6]
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⏷ Show the Full List of 7 DOT(s)

References

1	A de novo GLI3 mutation in a patient with acrocallosal syndrome. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30.
2	A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413.
3	Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.Eur J Med Genet. 2013 Jan;56(1):39-42. doi: 10.1016/j.ejmg.2012.10.004. Epub 2012 Nov 7.
4	Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.Mol Syndromol. 2015 Oct;6(4):173-80. doi: 10.1159/000439414. Epub 2015 Oct 7.
5	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
6	Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.