Agenesis of the Corpus Callosum and Congenital Lymphedema disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 613623

MedGen ⁴¹ C3150887

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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

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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
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:

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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

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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

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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

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Anatomical Context for Agenesis of the Corpus Callosum and Congenital Lymphedema

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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	O'Driscoll MC...Gripp KW	20583147	2010

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Genes for Agenesis of the Corpus Callosum and Congenital Lymphedema

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Variations for Agenesis of the Corpus Callosum and Congenital Lymphedema

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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.

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Pathways for Agenesis of the Corpus Callosum and Congenital Lymphedema

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GO Terms for Agenesis of the Corpus Callosum and Congenital Lymphedema

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