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Ataxia-pancytopenia syndrome

Ataxia-pancytopenia syndrome is an autosomal dominant disorder caused by mutations of the SAMD9L gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Ataxia-pancytopenia syndrome
SAMD9L
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
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.

Li FP et al. (1978) A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy.

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2.

Chen DH et al. (2016) Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

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3.

Daghistani D et al. (1989) Ataxia-pancytopenia and monosomy 7 syndrome.

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4.

Li FP et al. (1981) Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia.

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5.

González-del Angel A et al. (2000) Ataxia-pancytopenia syndrome.

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6.

Kirwan M et al. (2008) Dyskeratosis congenita: a genetic disorder of many faces.

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Update: Aug. 14, 2020
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