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.

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

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

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

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

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

Update: June 23, 2025

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