ACCAG
MCID: CRP033
MIFTS: 33

Corpus Callosum, Agenesis of, with Abnormal Genitalia (ACCAG)

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

Aliases & Classifications for Corpus Callosum, Agenesis of, with Abnormal Genitalia

MalaCards integrated aliases for Corpus Callosum, Agenesis of, with Abnormal Genitalia:

Name: Corpus Callosum, Agenesis of, with Abnormal Genitalia 58 54 76
Proud Syndrome 58 54 60 76 38 13 41 74
Proud Levine Carpenter Syndrome 54 30 6
Acc with Abnormal Genitalia 58 54 76
Proud-Levine-Carpenter Syndrome 60 76
New X-Linked Syndrome with Seizures, Acquired Micrencephaly, and Agenesis of the Corpus Callosum 54
Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome 60
Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia 76
Agenesis of the Corpus Callosum, with Abnormal Genitalia 76
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome 60
Acc-Abnormal Genitalia Syndrome 60
Congenital Neurologic Anomalies 74
Nervous System Malformations 45
Accag 76

Characteristics:

Orphanet epidemiological data:

60
corpus callosum agenesis-abnormal genitalia syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked

Miscellaneous:
some females are affected


HPO:

33
corpus callosum, agenesis of, with abnormal genitalia:
Inheritance x-linked inheritance


Classifications:



Summaries for Corpus Callosum, Agenesis of, with Abnormal Genitalia

OMIM : 58 Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype (Proud et al., 1992). Proud syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). (300004)

MalaCards based summary : Corpus Callosum, Agenesis of, with Abnormal Genitalia, also known as proud syndrome, is related to ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum and scalp syndrome, and has symptoms including constitutional symptom An important gene associated with Corpus Callosum, Agenesis of, with Abnormal Genitalia is ARX (Aristaless Related Homeobox). Affiliated tissues include brain, eye and bone, and related phenotypes are agenesis of corpus callosum and seizures

NIH Rare Diseases : 54 Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.

UniProtKB/Swiss-Prot : 76 Agenesis of the corpus callosum, with abnormal genitalia: A X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, mental retardation and seizures. Manifestations in surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias.

Related Diseases for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Diseases related to Corpus Callosum, Agenesis of, with Abnormal Genitalia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.3
2 scalp syndrome 11.3
3 x-linked lissencephaly with abnormal genitalia 11.2
4 hydrolethalus syndrome 1 11.1
5 meckel syndrome, type 1 11.1
6 lissencephaly, x-linked, 2 11.1
7 mental retardation, x-linked, with or without seizures, arx-related 11.1
8 epileptic encephalopathy, early infantile, 1 11.1
9 partington x-linked mental retardation syndrome 11.1
10 spondylometaphyseal dysplasia, sedaghatian type 11.0
11 meckel syndrome, type 7 11.0
12 acromelic frontonasal dysostosis 11.0
13 microcephaly, postnatal progressive, with seizures and brain atrophy 11.0
14 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 11.0
15 microcephaly brain defect spasticity hypernatremia 11.0
16 morse-rawnsley-sargent syndrome 11.0
17 neural tube defects 9.9
18 ectodermal dysplasia 9.9
19 orofaciodigital syndrome 9.9
20 aplasia cutis congenita 9.9
21 pallister-hall syndrome 9.8
22 joubert syndrome 1 9.8
23 charge syndrome 9.8
24 yunis-varon syndrome 9.8
25 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8
26 fanconi anemia, complementation group a 9.8
27 pyle disease 9.8
28 adrenoleukodystrophy 9.8
29 spondyloepimetaphyseal dysplasia, micromelic 9.8
30 neural tube defects, folate-sensitive 9.8
31 encephalopathy, ethylmalonic 9.8
32 deficiency anemia 9.8
33 pulmonary hypertension 9.8
34 craniosynostosis 9.8
35 microphthalmia 9.8
36 vacterl association 9.8
37 adrenomyeloneuropathy 9.8
38 dwarfism 9.8
39 encephalocele 9.8
40 neonatal adrenoleukodystrophy 9.8
41 encephalopathy 9.8

Graphical network of the top 20 diseases related to Corpus Callosum, Agenesis of, with Abnormal Genitalia:



Diseases related to Corpus Callosum, Agenesis of, with Abnormal Genitalia

Symptoms & Phenotypes for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Human phenotypes related to Corpus Callosum, Agenesis of, with Abnormal Genitalia:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001274
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
4 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
7 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
8 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
9 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
10 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
11 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
12 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
13 abnormality of the hip bone 60 33 frequent (33%) Frequent (79-30%) HP:0003272
14 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
15 abnormal hair pattern 60 33 frequent (33%) Frequent (79-30%) HP:0010720
16 tetraplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002445
17 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
18 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
19 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
20 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
21 renal dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000110
22 high palate 33 HP:0000218
23 prominent supraorbital ridges 33 HP:0000336
24 global developmental delay 33 HP:0001263
25 visual impairment 33 HP:0000505
26 optic atrophy 33 HP:0000648
27 neonatal hypotonia 33 HP:0001319
28 spastic tetraplegia 33 HP:0002510
29 broad alveolar ridges 33 HP:0000187
30 cryptorchidism 33 HP:0000028
31 intellectual disability, progressive 33 HP:0006887
32 low anterior hairline 33 HP:0000294
33 synophrys 33 HP:0000664
34 tapered finger 33 HP:0001182
35 hyperconvex nail 33 HP:0001795
36 hirsutism 33 HP:0001007
37 abnormally large globe 33 HP:0001090
38 overlapping toe 33 HP:0001845
39 limb joint contracture 33 HP:0003121

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
visual impairment
optic atrophy
strabismus
synophrys
more
Head And Neck Head:
prominent supraorbital ridges
microcephaly

Growth Height:
short stature

Skin Nails Hair Hair:
low anterior hairline
synophrys
hirsutism

Head And Neck Face:
coarse facies

Skeletal Feet:
tapered digits
overlapping toes

Head And Neck Ears:
prominent ears
auditory impairment

Genitourinary Kidneys:
small kidney (reported in 1 patient)

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
neonatal hypotonia
agenesis of the corpus callosum
developmental delay, severe
mental retardation, severe
spastic quadriplegia, progressive
more
Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
tapered digits

Skin Nails Hair Nails:
hyperconvex nails

Skeletal:
contractures

Clinical features from OMIM:

300004

UMLS symptoms related to Corpus Callosum, Agenesis of, with Abnormal Genitalia:


constitutional symptom

Drugs & Therapeutics for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Search Clinical Trials , NIH Clinical Center for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Cochrane evidence based reviews: nervous system malformations

Genetic Tests for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Genetic tests related to Corpus Callosum, Agenesis of, with Abnormal Genitalia:

# Genetic test Affiliating Genes
1 Proud Levine Carpenter Syndrome 30 ARX

Anatomical Context for Corpus Callosum, Agenesis of, with Abnormal Genitalia

MalaCards organs/tissues related to Corpus Callosum, Agenesis of, with Abnormal Genitalia:

42
Brain, Eye, Bone, Kidney, Heart

Publications for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Articles related to Corpus Callosum, Agenesis of, with Abnormal Genitalia:

# Title Authors Year
1
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations. ( 22252899 )
2012
2
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. ( 14722918 )
2004
3
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. ( 1605226 )
1992

Variations for Corpus Callosum, Agenesis of, with Abnormal Genitalia

UniProtKB/Swiss-Prot genetic disease variations for Corpus Callosum, Agenesis of, with Abnormal Genitalia:

76
# Symbol AA change Variation ID SNP ID
1 ARX p.Thr333Asn VAR_033261 rs104894745

ClinVar genetic disease variations for Corpus Callosum, Agenesis of, with Abnormal Genitalia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX): c.998C> A (p.Thr333Asn) single nucleotide variant Pathogenic rs104894745 GRCh37 Chromosome X, 25031114: 25031114
2 ARX NM_139058.2(ARX): c.998C> A (p.Thr333Asn) single nucleotide variant Pathogenic rs104894745 GRCh38 Chromosome X, 25012997: 25012997
3 ARX NM_139058.2(ARX): c.1170C> T (p.Gly390=) single nucleotide variant Conflicting interpretations of pathogenicity rs761632870 GRCh37 Chromosome X, 25025506: 25025506
4 ARX NM_139058.2(ARX): c.1170C> T (p.Gly390=) single nucleotide variant Conflicting interpretations of pathogenicity rs761632870 GRCh38 Chromosome X, 25007389: 25007389
5 ARX NM_139058.2(ARX): c.187G> A (p.Ala63Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 25015551: 25015551
6 ARX NM_139058.2(ARX): c.187G> A (p.Ala63Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 25033668: 25033668

Expression for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Search GEO for disease gene expression data for Corpus Callosum, Agenesis of, with Abnormal Genitalia.

Pathways for Corpus Callosum, Agenesis of, with Abnormal Genitalia

GO Terms for Corpus Callosum, Agenesis of, with Abnormal Genitalia

Sources for Corpus Callosum, Agenesis of, with Abnormal Genitalia

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35 ICD10 via Orphanet
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46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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