CCAFCA
MCID: CRP030
MIFTS: 33

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 58 76 6
Birk-Flusser Syndrome 58 76
Ccafca 58 76
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome 60
Agenesis of the Corpus Callosum, with Facial Anomalies and Cerebellar Ataxia 76
Agenesis of Corpus Callosum 45

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 polysyndactyly trigonocephaly agenesis of corpus callosum and agenesis of the corpus callosum with peripheral neuropathy. An important gene associated with Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia is FRMD4A (FERM Domain Containing 4A). Affiliated tissues include kidney, skin and heart, and related phenotypes are agenesis of corpus callosum and global developmental delay

Description 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 79)
# Related Disease Score Top Affiliating Genes
1 polysyndactyly trigonocephaly agenesis of corpus callosum 12.4
2 agenesis of the corpus callosum with peripheral neuropathy 12.3
3 aicardi syndrome 11.9
4 corpus callosum, agenesis of 11.6
5 acrocallosal syndrome 11.6
6 lissencephaly, x-linked, 1 11.5
7 corpus callosum, partial agenesis of, x-linked 11.5
8 opitz-kaveggia syndrome 11.5
9 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.5
10 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.3
11 combined oxidative phosphorylation deficiency 2 11.3
12 ben ari shuper mimouni syndrome 11.3
13 x-linked complicated corpus callosum agenesis 11.3
14 acrofacial dysostosis syndrome of rodriguez 11.2
15 marden-walker syndrome 11.2
16 corpus callosum, agenesis of, with abnormal genitalia 11.2
17 masa syndrome 11.2
18 orofaciodigital syndrome xv 11.2
19 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.2
20 structural heart defects and renal anomalies syndrome 11.2
21 8p inverted duplication/deletion syndrome 11.2
22 thakker-donnai syndrome 11.2
23 lipomatosis, multiple 10.3
24 cerebellar hypoplasia 10.3
25 lissencephaly 10.3
26 pleomorphic lipoma 10.3
27 microcephaly 10.3
28 aplasia cutis congenita, nonsyndromic 10.2
29 schizencephaly 10.2
30 cleft lip 10.2
31 colpocephaly 10.2
32 cleft lip/palate 10.2
33 acrocephalopolysyndactyly type iii 10.0
34 gilles de la tourette syndrome 10.0
35 hirschsprung disease 1 10.0
36 hypertelorism 10.0
37 laryngomalacia 10.0
38 moebius syndrome 10.0
39 noonan syndrome 1 10.0
40 optic nerve hypoplasia, bilateral 10.0
41 anus, imperforate 10.0
42 baller-gerold syndrome 10.0
43 hydrocephalus, congenital, 1 10.0
44 hypoparathyroidism-retardation-dysmorphism syndrome 10.0
45 thrombocytopenia-absent radius syndrome 10.0
46 frontotemporal dementia 10.0
47 fryns microphthalmia syndrome 10.0
48 renal dysplasia, cystic 10.0
49 desmosterolosis 10.0
50 polydactyly 10.0

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
2 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
3 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
4 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
5 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
6 thick lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000179
7 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
8 absent speech 60 33 frequent (33%) Frequent (79-30%) HP:0001344
9 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
10 palpebral edema 60 33 frequent (33%) Frequent (79-30%) HP:0100540
11 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
12 low anterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0000294
13 highly arched eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002553
14 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
15 cerebellar vermis hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001320
16 hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0001007
17 congenital microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0011451
18 narrow forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000341
19 limb hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0002509
20 nonprogressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002470
21 poor speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0002465
22 low-set ears 33 HP:0000369
23 intellectual disability 33 HP:0001249
24 ataxia 33 HP:0001251
25 microcephaly 60 Frequent (79-30%)
26 hypertonia 60 Frequent (79-30%)
27 everted lower lip vermilion 33 HP:0000232
28 protruding ear 33 HP:0000411
29 cerebellar hypoplasia 33 HP:0001321
30 partial agenesis of the corpus callosum 33 HP:0001338
31 aplasia/hypoplasia of the corpus callosum 33 HP:0007370
32 sparse hair 33 HP:0008070
33 posteriorly rotated ears 33 HP:0000358
34 upper eyelid edema 33 HP:0012724

Symptoms via clinical synopsis from OMIM:

58
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...

Search Clinical Trials , 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:

42
Kidney, Skin, Heart, Pituitary

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 58)
# Title Authors Year
1
A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits. ( 30069099 )
2018
2
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. ( 29130579 )
2018
3
Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum. ( 27054869 )
2016
4
Asymptomatic colpocephaly and partial agenesis of corpus callosum. ( 25440066 )
2016
5
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. ( 26780086 )
2016
6
Lissencephaly with agenesis of corpus callosum: A rare anomaly. ( 28050101 )
2016
7
"Quartered cerebrum": Bilateral schizencephaly with partial agenesis of corpus callosum. ( 27147184 )
2016
8
A report on the first case of Tourette syndrome associated with segmental agenesis of corpus callosum. ( 27625261 )
2016
9
Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation. ( 26280111 )
2016
10
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. ( 26197979 )
2016
11
Agenesis of corpus callosum and frontotemporal dementia: a casual finding? ( 25194000 )
2015
12
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. ( 25388005 )
2015
13
Rubinstein-Taybi syndrome with agenesis of corpus callosum. ( 26167229 )
2015
14
Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum. ( 26648835 )
2015
15
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum. ( 24583203 )
2014
16
Partial agenesis of corpus callosum--case study. ( 24779261 )
2014
17
Postnatally diagnosed agenesis of corpus callosum in fetuses. ( 24833489 )
2014
18
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. ( 22633752 )
2013
19
Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum. ( 24470815 )
2013
20
Anterior interhemispheric calcified lipoma together with subcutaneous lipoma and agenesis of corpus callosum: a rare manifestation of midline craniofacial dysraphism. ( 23504434 )
2013
21
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. ( 23393310 )
2013
22
Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly. ( 22795105 )
2012
23
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). ( 23041407 )
2012
24
An unusual association of calcifying pseudoneoplasm of the neuraxis with interhemispheric lipoma and agenesis of corpus callosum. ( 23172085 )
2012
25
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. ( 21559050 )
2011
26
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum. ( 21936942 )
2011
27
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome? ( 21465661 )
2011
28
Interhemispheric lipoma associated with agenesis of corpus callosum in an infant: case report. ( 21203605 )
2010
29
Ocular findings in pediatric patients with partial agenesis of corpus callosum. ( 19791713 )
2010
30
[Agenesis of corpus callosum - a review]. ( 20734653 )
2010
31
Calcified meconium balls in a newborn: an unusual case with imperforate anus, rectourinary fistula, colpocephaly, and agenesis of corpus callosum. ( 19319541 )
2009
32
Myelomeningocele with hydrocephalus and agenesis of corpus callosum. ( 20112840 )
2009
33
"Multicystic dysplastic kidney (Potter type II syndrome) and agenesis of corpus callosum (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero". ( 19065324 )
2008
34
Neuronal migration disorders, agenesis of corpus callosum, preauricular skin tag and bilateral morning glory syndrome in a term newborn infant. ( 18388784 )
2008
35
Sirenomelia with agenesis of corpus callosum. ( 16859065 )
2006
36
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. ( 16705068 )
2006
37
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. ( 16053913 )
2005
38
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. ( 16440880 )
2005
39
Congenital cervical teratoma, associated with agenesis of corpus callosum and a subarachnoid cyst. ( 15966061 )
2005
40
Do we consider Andermann syndrome in infants with agenesis of corpus callosum. ( 12872822 )
2003
41
Congenital asymmetric crying facies and agenesis of corpus callosum. ( 12581812 )
2003
42
Isolated complete agenesis of corpus callosum. ( 12800376 )
2003
43
Partial agenesis of corpus callosum in LEOPARD syndrome. ( 10583620 )
1999
44
A new case of neonatal progeroid syndrome with agenesis of corpus callosum. ( 10631926 )
1999
45
A case of hypocontractile neurogenic bladder associated with agenesis of corpus callosum. ( 18644301 )
1998
46
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? ( 9220202 )
1997
47
Interhemispheric arachnoid cyst with agenesis of corpus callosum. ( 9492406 )
1997
48
Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association? ( 9150845 )
1997
49
Agenesis of corpus callosum, hypertrophic pyloric stenosis and Hirschsprung disease: coincidence or common etiology? ( 8892371 )
1996
50
Agenesis of corpus callosum. ( 8883165 )
1996

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 Assembly Location
1 FRMD4A NM_018027.4(FRMD4A): c.2134_2146dup (p.Gly716Alafs) duplication Pathogenic rs869025338 GRCh37 Chromosome 10, 13699443: 13699455
2 FRMD4A NM_018027.4(FRMD4A): c.2134_2146dup (p.Gly716Alafs) duplication Pathogenic rs869025338 GRCh38 Chromosome 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...

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