MCID: AGN017
MIFTS: 15

Agenesis of the Corpus Callosum and Congenital Lymphedema

Categories: Immune diseases

Aliases & Classifications for Agenesis of the Corpus Callosum and Congenital Lymphedema

MalaCards integrated aliases for Agenesis of the Corpus Callosum and Congenital Lymphedema:

Name: Agenesis of the Corpus Callosum and Congenital Lymphedema 56 29

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two related patients have been reported (as of november 2010)
lymphedema resolves by age 3 years


HPO:

31
agenesis of the corpus callosum and congenital lymphedema:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Agenesis of the Corpus Callosum and Congenital Lymphedema

MalaCards based summary : Agenesis of the Corpus Callosum and Congenital Lymphedema is related to opitz-kaveggia syndrome and hennekam syndrome. Related phenotypes are patent ductus arteriosus and right ventricular hypertrophy

More information from OMIM: 613623

Related Diseases for Agenesis of the Corpus Callosum and Congenital Lymphedema

Diseases related to Agenesis of the Corpus Callosum and Congenital Lymphedema via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 opitz-kaveggia syndrome 10.2
2 hennekam syndrome 10.2
3 hereditary lymphedema i 10.2
4 oligohydramnios 10.2
5 congenital lymphedema 10.2

Graphical network of the top 20 diseases related to Agenesis of the Corpus Callosum and Congenital Lymphedema:



Diseases related to Agenesis of the Corpus Callosum and Congenital Lymphedema

Symptoms & Phenotypes for Agenesis of the Corpus Callosum and Congenital Lymphedema

Human phenotypes related to Agenesis of the Corpus Callosum and Congenital Lymphedema:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
2 right ventricular hypertrophy 31 occasional (7.5%) HP:0001667
3 global developmental delay 31 HP:0001263
4 anteverted nares 31 HP:0000463
5 gastroesophageal reflux 31 HP:0002020
6 lymphedema 31 HP:0001004
7 pulmonary arterial hypertension 31 HP:0002092
8 intrauterine growth retardation 31 HP:0001511
9 high palate 31 HP:0000218
10 low-set ears 31 HP:0000369
11 hypertension 31 HP:0000822
12 epicanthus 31 HP:0000286
13 dolichocephaly 31 HP:0000268
14 thin upper lip vermilion 31 HP:0000219
15 long philtrum 31 HP:0000343
16 sacral dimple 31 HP:0000960
17 agenesis of corpus callosum 31 HP:0001274
18 wide anterior fontanel 31 HP:0000260
19 premature birth 31 HP:0001622
20 oligohydramnios 31 HP:0001562
21 posteriorly rotated ears 31 HP:0000358
22 generalized hypotonia 31 HP:0001290
23 basal ganglia cysts 31 HP:0006799

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
basal ganglia cysts
agenesis of the corpus callosum

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

Head And Neck Face:
long philtrum

Prenatal Manifestations Delivery:
premature birth

Head And Neck Mouth:
thin upper lip
high-arched palate

Head And Neck Eyes:
epicanthal folds

Growth Other:
intrauterine growth retardation (iugr)

Cardiovascular Vascular:
patent ductus arteriosus (1 patient)
pulmonary hypertension (neonatal period)

Abdomen Gastrointestinal:
gastroesophageal reflux

Head And Neck Head:
dolichocephaly
wide anterior fontanelle

Skin Nails Hair Skin:
sacral dimple

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Muscle Soft Tissue:
hypotonia
lymphedema of the extremities

Head And Neck Nose:
upturned nose

Cardiovascular Heart:
right ventricular hypertrophy (1 patient)
right ventricular dilation (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
cheerful personality

Clinical features from OMIM:

613623

Drugs & Therapeutics for Agenesis of the Corpus Callosum and Congenital Lymphedema

Search Clinical Trials , NIH Clinical Center for Agenesis of the Corpus Callosum and Congenital Lymphedema

Genetic Tests for Agenesis of the Corpus Callosum and Congenital Lymphedema

Genetic tests related to Agenesis of the Corpus Callosum and Congenital Lymphedema:

# Genetic test Affiliating Genes
1 Agenesis of the Corpus Callosum and Congenital Lymphedema 29

Anatomical Context for Agenesis of the Corpus Callosum and Congenital Lymphedema

Publications for Agenesis of the Corpus Callosum and Congenital Lymphedema

Articles related to Agenesis of the Corpus Callosum and Congenital Lymphedema:

# Title Authors PMID Year
1
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? 56 61
20583147 2010

Variations for Agenesis of the Corpus Callosum and Congenital Lymphedema

Expression for Agenesis of the Corpus Callosum and Congenital Lymphedema

Search GEO for disease gene expression data for Agenesis of the Corpus Callosum and Congenital Lymphedema.

Pathways for Agenesis of the Corpus Callosum and Congenital Lymphedema

GO Terms for Agenesis of the Corpus Callosum and Congenital Lymphedema

Sources for Agenesis of the Corpus Callosum and Congenital Lymphedema

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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