CCAFCA
MCID: CRP030
MIFTS: 37

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 56 73 6
Birk-Flusser Syndrome 56 73
Ccafca 56 73
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome 58
Agenesis of the Corpus Callosum, with Facial Anomalies and Cerebellar Ataxia 73
Corpus Callosum Agenesis with Facial Anomalies and Cerebellar Ataxia 36
Agenesis of Corpus Callosum 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

KEGG : 36 Corpus callosum agenesis with facial anomalies and cerebellar ataxia (CCAFCA) is a novel autosomal recessive microcephaly intellectual disability syndrome with agenesis of corpus callosum and partial hypoplasia of the vermis and cerebellum. This disease is associated with mutations in FRMD4A, that is involved in cell structure, transport and signaling.

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 cerebellum, brain and eye, and related phenotypes are global developmental delay and anteverted nares

UniProtKB/Swiss-Prot : 73 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.

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 155)
# 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 12.0
4 corpus callosum, partial agenesis of, x-linked 12.0
5 opitz-kaveggia syndrome 11.9
6 acrocallosal syndrome 11.7
7 lissencephaly, x-linked, 1 11.6
8 combined oxidative phosphorylation deficiency 2 11.6
9 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.6
10 masa syndrome 11.5
11 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.5
12 ben ari shuper mimouni syndrome 11.5
13 acrofacial dysostosis syndrome of rodriguez 11.3
14 marden-walker syndrome 11.3
15 corpus callosum, agenesis of, with abnormal genitalia 11.3
16 orofaciodigital syndrome xv 11.3
17 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.3
18 structural heart defects and renal anomalies syndrome 11.3
19 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 11.3
20 structural brain anomalies with impaired intellectual development and craniosynostosis 11.3
21 8p inverted duplication/deletion syndrome 11.3
22 thakker-donnai syndrome 11.3
23 chromosomal triplication 10.4
24 lipomatosis, multiple 10.4
25 hydrocephalus, congenital, 1 10.4
26 lissencephaly 10.4
27 pleomorphic lipoma 10.4
28 microcephaly 10.4
29 hydrocephalus 10.4
30 cerebellar hypoplasia 10.3
31 colpocephaly 10.3
32 dandy-walker syndrome 10.3
33 cleft lip 10.3
34 cleft lip/palate 10.3
35 hypertelorism 10.2
36 optic nerve hypoplasia, bilateral 10.2
37 greig cephalopolysyndactyly syndrome 10.2
38 schizophrenia 10.2
39 strabismus 10.2
40 schizencephaly 10.2
41 patent ductus arteriosus 1 10.2
42 alacrima, achalasia, and mental retardation syndrome 10.2
43 respiratory failure 10.2
44 visual epilepsy 10.2
45 heart septal defect 10.2
46 atrial heart septal defect 10.2
47 holoprosencephaly 10.2
48 neurofibromatosis 10.2
49 mechanical strabismus 10.2
50 pathologic nystagmus 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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
3 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
4 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
5 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
8 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
9 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
10 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
11 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
12 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
13 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
14 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
15 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
16 hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0001007
17 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
18 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
19 congenital microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0011451
20 nonprogressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002470
21 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
22 intellectual disability 31 HP:0001249
23 microcephaly 58 Frequent (79-30%)
24 hypertonia 58 Frequent (79-30%)
25 ataxia 31 HP:0001251
26 everted lower lip vermilion 31 HP:0000232
27 low-set ears 31 HP:0000369
28 protruding ear 31 HP:0000411
29 cerebellar hypoplasia 31 HP:0001321
30 aplasia/hypoplasia of the corpus callosum 31 HP:0007370
31 partial agenesis of the corpus callosum 31 HP:0001338
32 sparse hair 31 HP:0008070
33 posteriorly rotated ears 31 HP:0000358
34 upper eyelid edema 31 HP:0012724

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
anteverted nares

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

Neurologic Central Nervous System:
cerebellar hypoplasia
cerebellar ataxia
mental retardation
delayed psychomotor development, severe
poor or absent speech
more
Head And Neck Mouth:
protruding lower lip

Head And Neck Head:
microcephaly, congenital

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

Skin Nails Hair Hair:
low anterior hairline
hirsutism

Head And Neck Face:
bitemporal narrowing

Growth Other:
poor overall growth

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 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Unknown status NCT03680651
4 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Unknown status NCT02826824
5 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum Unknown status NCT03600792
6 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
7 Genetic Analysis of Brain Disorders Recruiting NCT00645645
8 Outcome of Infants With Prenatal Corpus Callosum Agenesis Active, not recruiting NCT02267161
9 Early Postnatal Management of Gestational Brain Sonographic Malformations. Not yet recruiting NCT04293302

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:

40
Cerebellum, Brain, Eye, Skin, Pituitary, Kidney, 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 342)
# Title Authors PMID Year
1
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. 61 6 56
25388005 2015
2
An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum. 61
31970575 2020
3
Pontocerebellar Hypoplasia: a Pattern Recognition Approach. 61
32410094 2020
4
Application of prenatal ultrasonography and magnetic resonance imaging on fetal agenesis of corpus callosum. 61
32266953 2020
5
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature. 61
31697046 2020
6
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene. 61
31804259 2020
7
Diagnostic value of Omniview technique on the agenesis of corpus callosum. 61
29726726 2019
8
Associated anomalies in cases with agenesis of the corpus callosum. 61
31444900 2019
9
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 61
31585109 2019
10
Successful management of absent sternum in an infant using porcine acellular dermal matrix. 61
30967520 2019
11
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 61
31285555 2019
12
Utility of indirect sonographic signs (including cavum septum pellucidum ratio) in midgestational screening for partial agenesis of corpus callosum. 61
30838673 2019
13
Genetic testing in fetuses with isolated agenesis of the corpus callosum. 61
31450992 2019
14
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging. 61
31155818 2019
15
[Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication]. 61
31302917 2019
16
Vici Syndrome with a Novel Mutation in EPG5. 61
31333218 2019
17
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. 61
30868738 2019
18
White-matter commissures: a clinically focused anatomical review. 61
31119409 2019
19
Detectability of the choroid plexus of the third ventricle with magnetic resonance ventriculography. 61
31016683 2019
20
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. 61
30796522 2019
21
Lipoma with Agenesis of Corpus Callosum: 2 Case Reports and Literature Review. 61
30703587 2019
22
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. 61
30982608 2019
23
Prenatal detection of right aortic arch. 61
30706183 2019
24
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 61
30622331 2019
25
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 61
30637988 2019
26
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 61
30464055 2019
27
Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome. 61
30800048 2019
28
Sulcal pits and patterns in developing human brains. 61
29601953 2019
29
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE). 61
30702069 2018
30
PRICKLE1-related early onset epileptic encephalopathy. 61
30345727 2018
31
Phenotypic and molecular insights into PQBP1-related intellectual disability. 61
30244542 2018
32
Prevalence and associated factors for agenesis of corpus callosum in Emilia Romagna (1981-2015). 61
29902589 2018
33
Disorganized Patterns of Sulcal Position in Fetal Brains with Agenesis of Corpus Callosum. 61
30124828 2018
34
A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits. 61
30069099 2018
35
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. 61
29130579 2018
36
Imaging features of complete agenesis of corpus callosum in a 3-year-old child. 61
30799905 2018
37
Interhemispheric cortical connections and time perception: A case study with agenesis of the corpus callosum. 61
28697375 2017
38
Aicardi syndrome and cognitive abilities: A report of five cases. 61
28641168 2017
39
Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles. 61
28499675 2017
40
Paediatrics Brain Imaging In Epilepsy: Common Presenting Symptoms And Spectrum Of Abnormalities Detected On MRI. 61
28718234 2017
41
Clinical-epidemiological description of live births with microcephaly in the state of Sergipe, Brazil, 2015. 61
28492766 2017
42
Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea. 61
28217666 2017
43
Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum. 61
27683483 2017
44
The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration. 61
28798667 2017
45
Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report. 61
28622125 2017
46
Delusional Disorder in a Patient with Corpus Callosum Agenesis. 61
28208982 2016
47
Lissencephaly with agenesis of corpus callosum: A rare anomaly. 61
28050101 2016
48
[Behavioral and cognitive profile of corpus callosum agenesia - Review]. 61
29733554 2016
49
Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging. 61
26990213 2016
50
Prenatal diagnosis of Chudley-McCullough syndrome. 61
27312216 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FRMD4A NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs)duplication Pathogenic 222035 rs869025338 10:13699442-13699443 10:13657442-13657443

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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