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 57 72 6
Birk-Flusser Syndrome 57 72
Ccafca 57 72
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome 58
Agenesis of the Corpus Callosum, with Facial Anomalies and Cerebellar Ataxia 72
Corpus Callosum Agenesis with Facial Anomalies and Cerebellar Ataxia 36
Agenesis of Corpus Callosum 44

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 skin, and related phenotypes are agenesis of corpus callosum and global developmental delay

UniProtKB/Swiss-Prot : 72 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 150)
# Related Disease Score Top Affiliating Genes
1 agenesis of the corpus callosum with peripheral neuropathy 11.8
2 aicardi syndrome 11.8
3 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 11.8
4 corpus callosum, partial agenesis of, x-linked 11.5
5 lissencephaly, x-linked, 1 11.5
6 combined oxidative phosphorylation deficiency 2 11.5
7 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.3
8 masa syndrome 11.3
9 opitz-kaveggia syndrome 11.3
10 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.3
11 ben ari shuper mimouni syndrome 11.3
12 acrocallosal syndrome 11.2
13 acrofacial dysostosis syndrome of rodriguez 11.2
14 marden-walker syndrome 11.2
15 corpus callosum, agenesis of, with abnormal genitalia 11.2
16 orofaciodigital syndrome xv 11.2
17 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.2
18 structural heart defects and renal anomalies syndrome 11.2
19 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 11.2
20 structural brain anomalies with impaired intellectual development and craniosynostosis 11.2
21 8p inverted duplication/deletion syndrome 11.2
22 thakker-donnai syndrome 11.2
23 corpus callosum, agenesis of 10.5
24 chromosomal triplication 10.4
25 lipomatosis, multiple 10.4
26 lissencephaly 10.4
27 pleomorphic lipoma 10.4
28 microcephaly 10.4
29 hydrocephalus 10.4
30 cerebellar hypoplasia 10.4
31 colpocephaly 10.4
32 cleft lip 10.3
33 cleft lip/palate 10.3
34 hypertelorism 10.2
35 optic nerve hypoplasia, bilateral 10.2
36 greig cephalopolysyndactyly syndrome 10.2
37 strabismus 10.2
38 schizencephaly 10.2
39 patent ductus arteriosus 1 10.2
40 alacrima, achalasia, and mental retardation syndrome 10.2
41 respiratory failure 10.2
42 heart septal defect 10.2
43 atrial heart septal defect 10.2
44 holoprosencephaly 10.2
45 neurofibromatosis 10.2
46 mechanical strabismus 10.2
47 pathologic nystagmus 10.2
48 meningoencephalocele 10.2
49 seizure disorder 10.2
50 acrocephalopolysyndactyly type iii 10.1

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 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
4 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
5 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
6 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
9 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
10 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
11 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
12 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
13 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
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 ataxia 31 HP:0001251
24 microcephaly 58 Frequent (79-30%)
25 hypertonia 58 Frequent (79-30%)
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®:

57 (Updated 05-Apr-2021)
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
Growth Other:
poor overall growth

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

Head And Neck Mouth:
protruding lower lip

Muscle Soft Tissue:
hypertonia in infancy

Clinical features from OMIM®:

616819 (Updated 05-Apr-2021)

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 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Unknown status NCT03680651
5 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum Completed NCT03600792
6 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
7 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:

40
Cerebellum, Brain, Skin, Eye, Pituitary, Cortex, Kidney

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 356)
# Title Authors PMID Year
1
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. 61 57 6
25388005 2015
2
Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome. 61
33768696 2021
3
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. 61
33749989 2021
4
Molecular Profiling Reveals Involvement of ESCO2 in Intermediate Progenitor Cell Maintenance in the Developing Mouse Cortex. 61
33798452 2021
5
Peculiar footprints in a child with agenesis of corpus callosum. 61
33728780 2021
6
Peculiar footprints in a child with agenesis of corpus callosum. 61
33728775 2021
7
Surgical treatment and clinical outcome of large pediatric interhemispheric cysts with callosal agenesis: A systematic literature review with four additional patients. 61
33799088 2021
8
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development. 61
33141514 2021
9
Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review. 61
33517337 2021
10
Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta-analysis. 61
32652537 2021
11
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2. 61
32765930 2020
12
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. 61
32949109 2020
13
Descriptive neuroradiology: beyond the hummingbird. 61
32855211 2020
14
Clinical Outcome of Children With Corpus Callosum Agenesis. 61
32911263 2020
15
Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome. 61
33110888 2020
16
Pontocerebellar Hypoplasia: a Pattern Recognition Approach. 61
32410094 2020
17
An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum. 61
31970575 2020
18
Application of prenatal ultrasonography and magnetic resonance imaging on fetal agenesis of corpus callosum. 61
32266953 2020
19
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene. 61
31804259 2020
20
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
21
Diagnostic value of Omniview technique on the agenesis of corpus callosum. 61
29726726 2019
22
Associated anomalies in cases with agenesis of the corpus callosum. 61
31444900 2019
23
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 61
31585109 2019
24
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 61
31285555 2019
25
Successful management of absent sternum in an infant using porcine acellular dermal matrix. 61
30967520 2019
26
Utility of indirect sonographic signs (including cavum septum pellucidum ratio) in midgestational screening for partial agenesis of corpus callosum. 61
30838673 2019
27
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging. 61
31155818 2019
28
Genetic testing in fetuses with isolated agenesis of the corpus callosum. 61
31450992 2019
29
[Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication]. 61
31302917 2019
30
Vici Syndrome with a Novel Mutation in EPG5. 61
31333218 2019
31
Detectability of the choroid plexus of the third ventricle with magnetic resonance ventriculography. 61
31016683 2019
32
White-matter commissures: a clinically focused anatomical review. 61
31119409 2019
33
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. 61
30868738 2019
34
Lipoma with Agenesis of Corpus Callosum: 2 Case Reports and Literature Review. 61
30703587 2019
35
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. 61
30982608 2019
36
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. 61
30796522 2019
37
Prenatal detection of right aortic arch. 61
30706183 2019
38
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 61
30622331 2019
39
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 61
30637988 2019
40
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 61
30464055 2019
41
Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome. 61
30800048 2019
42
Sulcal pits and patterns in developing human brains. 61
29601953 2019
43
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE). 61
30702069 2018
44
PRICKLE1-related early onset epileptic encephalopathy. 61
30345727 2018
45
Phenotypic and molecular insights into PQBP1-related intellectual disability. 61
30244542 2018
46
Disorganized Patterns of Sulcal Position in Fetal Brains with Agenesis of Corpus Callosum. 61
30124828 2018
47
Prevalence and associated factors for agenesis of corpus callosum in Emilia Romagna (1981-2015). 61
29902589 2018
48
A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits. 61
30069099 2018
49
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. 61
29130579 2018
50
Imaging features of complete agenesis of corpus callosum in a 3-year-old child. 61
30799905 2018

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 Position
1 FRMD4A NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs) Duplication Pathogenic 222035 rs869025338 GRCh37: 10:13699442-13699443
GRCh38: 10:13657442-13657443
2 FRMD4A NM_018027.5(FRMD4A):c.2837C>T (p.Ser946Leu) SNV Uncertain significance 930827 GRCh37: 10:13698752-13698752
GRCh38: 10:13656752-13656752

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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