Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Porencephaly

Porencephaly is characterized by cavities in the brain. Those cavities may communicate with the ventricular systemor cause indentations in the brain surface. Acquired and inherited forms can be distinguished.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Ataxia-pancytopenia syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Epilepsy syndrome
Hereditary benign chorea
Hereditary brain tumors
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Porencephaly 1
COL4A1
Porencephaly 2
COL4A2
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

De Lonlay P et al. (2001) Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.

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2.

None (1946) Facial characteristics of infants with bilateral renal agenesis.

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3.

Sanna-Cherchi S et al. (2012) Copy-number disorders are a common cause of congenital kidney malformations.

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4.

Bankier A et al. (1988) Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution.

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5.

Morse RP et al. (1987) Bilateral renal agenesis in three consecutive siblings.

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6.

Bankier A et al. (1985) A pedigree study of perinatally lethal renal disease.

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7.

Wilson RD et al. (1985) Renal agenesis in British Columbia.

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8.

Cain DR et al. (1974) Familial renal agenesis and total dysplasia.

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9.

Carter CO et al. (1979) A family study of renal agenesis.

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10.

Kohn G et al. (1973) The association of bilateral and unilateral renal aplasia in the same family.

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11.

Hack M et al. (1974) Familial aggregation in bilateral renal agenesis.

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12.

Rizza JM et al. (1971) Bilateral renal agenesis in two female siblings.

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13.

Winter JS et al. (1968) A familial syndrome of renal, genital, and middle ear anomalies.

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14.

Yates JR et al. (1984) Concordant monozygotic twins with bilateral renal agenesis.

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15.

Roodhooft AM et al. (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys.

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16.

Monn E et al. (1984) Hereditary renal adysplasia.

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Update: Aug. 14, 2020
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