CCAFCA
MCID: CRP030
MIFTS: 35

Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia (CCAFCA)

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

Aliases & Classifications for Corpus Callosum, Agenesis of, with Facial Anomalies and...

MalaCards integrated aliases for Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia:

Name: Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 57 74 6
Birk-Flusser Syndrome 57 74
Ccafca 57 74
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome 59
Agenesis of the Corpus Callosum, with Facial Anomalies and Cerebellar Ataxia 74
Agenesis of Corpus Callosum 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous israeli bedouin kindred has been reported (last curated february 2016)


HPO:

32
corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616819
MeSH 44 D061085
Orphanet 59 ORPHA466688

Summaries for Corpus Callosum, Agenesis of, with Facial Anomalies and...

UniProtKB/Swiss-Prot : 74 Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia: An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment.

MalaCards based summary : Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia, also known as birk-flusser syndrome, is related to agenesis of the corpus callosum with peripheral neuropathy and aicardi syndrome. An important gene associated with Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia is FRMD4A (FERM Domain Containing 4A). Affiliated tissues include brain, skin and eye, and related phenotypes are agenesis of corpus callosum and global developmental delay

More information from OMIM: 616819

Related Diseases for Corpus Callosum, Agenesis of, with Facial Anomalies and...

Diseases related to Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 agenesis of the corpus callosum with peripheral neuropathy 12.5
2 aicardi syndrome 12.4
3 corpus callosum, agenesis of 12.1
4 corpus callosum, partial agenesis of, x-linked 11.9
5 opitz-kaveggia syndrome 11.9
6 acrocallosal syndrome 11.7
7 lissencephaly, x-linked, 1 11.6
8 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.6
9 masa syndrome 11.5
10 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.5
11 combined oxidative phosphorylation deficiency 2 11.5
12 ben ari shuper mimouni syndrome 11.5
13 x-linked complicated corpus callosum agenesis 11.5
14 acrofacial dysostosis syndrome of rodriguez 11.4
15 marden-walker syndrome 11.4
16 corpus callosum, agenesis of, with abnormal genitalia 11.4
17 orofaciodigital syndrome xv 11.4
18 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.4
19 structural heart defects and renal anomalies syndrome 11.4
20 8p inverted duplication/deletion syndrome 11.4
21 thakker-donnai syndrome 11.4
22 chromosomal triplication 10.4
23 hydrocephalus, congenital, 1 10.4
24 lissencephaly 10.4
25 hydrocephalus 10.4
26 microcephaly 10.4
27 congenital hydrocephalus 10.4
28 lipomatosis, multiple 10.3
29 c syndrome 10.3
30 cerebellar hypoplasia 10.3
31 pleomorphic lipoma 10.3
32 colpocephaly 10.3
33 cerebral malformation 10.3
34 cleft lip 10.3
35 cleft lip/palate 10.3
36 hypertelorism 10.2
37 neurofibromatosis, type iv, of riccardi 10.2
38 optic nerve hypoplasia, bilateral 10.2
39 greig cephalopolysyndactyly syndrome 10.2
40 schizophrenia 10.2
41 strabismus 10.2
42 schizencephaly 10.2
43 patent ductus arteriosus 1 10.2
44 alacrima, achalasia, and mental retardation syndrome 10.2
45 visual epilepsy 10.2
46 dementia 10.2
47 heart septal defect 10.2
48 atrial heart septal defect 10.2
49 holoprosencephaly 10.2
50 mechanical strabismus 10.2

Graphical network of the top 20 diseases related to Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia:



Diseases related to Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia

Symptoms & Phenotypes for Corpus Callosum, Agenesis of, with Facial Anomalies and...

Human phenotypes related to Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
2 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
3 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
4 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
5 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
6 narrow forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000341
7 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
8 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
9 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
10 absent speech 59 32 frequent (33%) Frequent (79-30%) HP:0001344
11 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
12 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
13 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
14 low anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0000294
15 long eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000527
16 cerebellar vermis hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001320
17 congenital microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0011451
18 hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0001007
19 limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0002509
20 nonprogressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002470
21 poor speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002465
22 low-set ears 32 HP:0000369
23 intellectual disability 32 HP:0001249
24 ataxia 32 HP:0001251
25 microcephaly 59 Frequent (79-30%)
26 hypertonia 59 Frequent (79-30%)
27 protruding ear 32 HP:0000411
28 everted lower lip vermilion 32 HP:0000232
29 cerebellar hypoplasia 32 HP:0001321
30 partial agenesis of the corpus callosum 32 HP:0001338
31 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
32 sparse hair 32 HP:0008070
33 upper eyelid edema 32 HP:0012724
34 posteriorly rotated ears 32 HP:0000358

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
protruding ears

Head And Neck Eyes:
strabismus
long eyelashes
puffy eyelids
thick, arched eyebrows

Skin Nails Hair Hair:
low anterior hairline
hirsutism

Head And Neck Mouth:
protruding lower lip

Growth Other:
poor overall growth

Head And Neck Nose:
anteverted nares

Neurologic Central Nervous System:
cerebellar hypoplasia
cerebellar ataxia
mental retardation
delayed psychomotor development, severe
poor or absent speech
more
Head And Neck Face:
bitemporal narrowing

Head And Neck Head:
microcephaly, congenital

Muscle Soft Tissue:
hypertonia in infancy

Clinical features from OMIM:

616819

Drugs & Therapeutics for Corpus Callosum, Agenesis of, with Facial Anomalies and...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1 Pilot Study of Bioengineered Penile Tissue Constructs in Subjects With Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
2 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
3 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Unknown status NCT02826824
4 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
5 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
6 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum Recruiting NCT03600792
7 Genetic Analysis of Brain Disorders Recruiting NCT00645645
8 Outcome of Infants With Prenatal Corpus Callosum Agenesis Active, not recruiting NCT02267161

Search NIH Clinical Center for Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia

Cochrane evidence based reviews: agenesis of corpus callosum

Genetic Tests for Corpus Callosum, Agenesis of, with Facial Anomalies and...

Anatomical Context for Corpus Callosum, Agenesis of, with Facial Anomalies and...

MalaCards organs/tissues related to Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia:

41
Brain, Skin, Eye, Pituitary, Kidney, Cerebellum, Fetal Brain

Publications for Corpus Callosum, Agenesis of, with Facial Anomalies and...

Articles related to Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia:

(show top 50) (show all 333)
# Title Authors PMID Year
1
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. 38 8 71
25388005 2015
2
Diagnostic value of Omniview technique on the agenesis of corpus callosum. 38
29726726 2019
3
Utility of indirect sonographic signs (including cavum septum pellucidum ratio) in midgestational screening for partial agenesis of corpus callosum. 38
30838673 2019
4
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 38
31285555 2019
5
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging. 38
31155818 2019
6
Vici Syndrome with a Novel Mutation in EPG5. 38
31333218 2019
7
[Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication]. 38
31302917 2019
8
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. 38
30868738 2019
9
White-matter commissures: a clinically focused anatomical review. 38
31119409 2019
10
Detectability of the choroid plexus of the third ventricle with magnetic resonance ventriculography. 38
31016683 2019
11
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. 38
30796522 2019
12
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. 38
30982608 2019
13
Prenatal detection of right aortic arch. 38
30706183 2019
14
Successful management of absent sternum in an infant using porcine acellular dermal matrix. 38
30967520 2019
15
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 38
30622331 2019
16
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 38
30637988 2019
17
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 38
30464055 2019
18
Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome. 38
30800048 2019
19
Sulcal pits and patterns in developing human brains. 38
29601953 2019
20
PRICKLE1-related early onset epileptic encephalopathy. 38
30345727 2018
21
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE). 38
30702069 2018
22
Phenotypic and molecular insights into PQBP1-related intellectual disability. 38
30244542 2018
23
Disorganized Patterns of Sulcal Position in Fetal Brains with Agenesis of Corpus Callosum. 38
30124828 2018
24
Prevalence and associated factors for agenesis of corpus callosum in Emilia Romagna (1981-2015). 38
29902589 2018
25
A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits. 38
30069099 2018
26
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. 38
29130579 2018
27
Imaging features of complete agenesis of corpus callosum in a 3-year-old child. 38
30799905 2018
28
Interhemispheric cortical connections and time perception: A case study with agenesis of the corpus callosum. 38
28697375 2017
29
Aicardi syndrome and cognitive abilities: A report of five cases. 38
28641168 2017
30
Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles. 38
28499675 2017
31
Paediatrics Brain Imaging In Epilepsy: Common Presenting Symptoms And Spectrum Of Abnormalities Detected On MRI. 38
28718234 2017
32
Clinical-epidemiological description of live births with microcephaly in the state of Sergipe, Brazil, 2015. 38
28492766 2017
33
Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum. 38
27683483 2017
34
Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea. 38
28217666 2017
35
The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration. 38
28798667 2017
36
Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report. 38
28622125 2017
37
Delusional Disorder in a Patient with Corpus Callosum Agenesis. 38
28208982 2016
38
Lissencephaly with agenesis of corpus callosum: A rare anomaly. 38
28050101 2016
39
[Behavioral and cognitive profile of corpus callosum agenesia - Review]. 38
29733554 2016
40
Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging. 38
26990213 2016
41
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. 38
27346851 2016
42
Prenatal diagnosis of Chudley-McCullough syndrome. 38
27312216 2016
43
Clinical and neuroimaging findings in children with gray matter heterotopias: A single institution experience of 36 patients. 38
27262615 2016
44
A report on the first case of Tourette syndrome associated with segmental agenesis of corpus callosum. 38
27625261 2016
45
Fetal Central Nervous System Anomalies Detected by Magnetic Resonance Imaging: A Two-Year Experience. 38
27729957 2016
46
A study of neurosonogram abnormalities, clinical correlation with neurosonogram findings, and immediate outcome of high-risk neonates in Neonatal Intensive Care Unit. 38
27857787 2016
47
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. 38
26780086 2016
48
Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation. 38
26280111 2016
49
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. 38
27016154 2016
50
"Quartered cerebrum": Bilateral schizencephaly with partial agenesis of corpus callosum. 38
27147184 2016

Variations for Corpus Callosum, Agenesis of, with Facial Anomalies and...

ClinVar genetic disease variations for Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FRMD4A NM_018027.5(FRMD4A): c.2134_2146dup (p.Gly716fs) duplication Pathogenic rs869025338 10:13699443-13699455 10:13657443-13657455

Expression for Corpus Callosum, Agenesis of, with Facial Anomalies and...

Search GEO for disease gene expression data for Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia.

Pathways for Corpus Callosum, Agenesis of, with Facial Anomalies and...

GO Terms for Corpus Callosum, Agenesis of, with Facial Anomalies and...

Sources for Corpus Callosum, Agenesis of, with Facial Anomalies and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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