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Retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Acanthocytosis

Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.

Total: 16

(per page)

PMID (PMCID)
25488886	FEMALE	Infant, Newborn
	A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?
	Ferreira F, Patel V, Matts S. BMJ Case Rep. 2014;2014:.
	The broad spectrum of presentations includes malabsorption, failure to thrive and acanthocytosis in children, while later in life expected manifestations include coagulopathy, myopathy, retinitis pigmentosa, peripheral neuropathy, hyporeflexia and ataxia.
22236406	FEMALE
	Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
	Di Filippo M, Crehalet H, Samson-Bouma ME, Bonnet V, Aggerbeck LP, Rabes JP, Gottrand F, Luc G, Bozon D, Sassolas A. J Lipid Res. 2012;53(3):548-55.
	She presented with severe liver injury, low levels of LDL-cholesterol, and subnormal levels of vitamin E, but only mild fat malabsorption and no retinitis pigmentosa or acanthocytosis.
21502686	FEMALE	Infant
	Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
	Sani MN, Sabbaghian M, Mahjoob F, Cefalu AB, Averna MR, Rezaei N. Ann Hepatol. 2011;10(2):221-6.
	Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy.
12630961	MALE	Middle Aged
	Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
	Al-Shali K, Wang J, Rosen F, Hegele RA. Clin Genet. 2003;63(2):135-8.
	The patient had a lifelong history of fat malabsorption, but was only diagnosed with ABL at age 52, based upon such classic features as absence of apo B-containing lipoproteins, acanthocytosis, atypical retinitis pigmentosa and markedly depressed serum beta-carotene concentration.
11592517	MALE	Infant
	Abetalipoproteinemia: a case report.
	Selimoglu MA, Esrefoglu M, Gundogdu C, Kilic A. Turk J Pediatr. 2001;43(3):243-5.
	Abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa.
9714141	FEMALE	Middle Aged
	A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus.
	Ohashi K, Ishibashi S, Yamamoto M, Osuga J, Yazaki Y, Yukawa S, Yamada N. Arterioscler Thromb Vasc Biol. 1998;18(8):1330-4.
	The proband revealed clinical findings of retinitis pigmentosa, acanthocytosis, and loss of deep tendon reflexes that are characteristic of severe hypobetalipoproteinemia.
8866438	OTHER	Adult
	Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.
	Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi GM, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi GC. J Neurol Sci. 1996;140(1-2):129-31.
	Acanthocytosis and retinitis pigmentosa were additional findings.
8866438	OTHER	Adult
	Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.
	Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi GM, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi GC. J Neurol Sci. 1996;140(1-2):129-31.
	This phenotype closely resembled the so-called HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration), but extensive serum lipid study failed to demonstrate any lipoprotein abnormality.
8866438	OTHER	Adult
	Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.
	Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi GM, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi GC. J Neurol Sci. 1996;140(1-2):129-31.
	Acanthocytosis, retinitis pigmentosa, pallidal degeneration.
8697459	FEMALE	Child
	Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis.
	Malandrini A, Fabrizi GM, Bartalucci P, Salvadori C, Berti G, Sabo C, Guazzi GC. Childs Nerv Syst. 1996;12(3):155-60.
	Retinitis pigmentosa, acanthocytosis and slight neuromuscular involvement with an increase in serum creatine kinase were observed in both subjects.
7898702	MIXED_SAMPLE	Adult
	Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).
	Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD. Neurology. 1995;45(3 Pt 1):487-92.
	We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia.
7898702	MIXED_SAMPLE	Adult
	Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).
	Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD. Neurology. 1995;45(3 Pt 1):487-92.
	Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).
8133839	FEMALE
	[Abetalipoproteinemia: case report].
	Guariso G, Chiarelli MS, Nichetti C, Montesco MC, Zancan L. Minerva Pediatr. 1993;45(11):463-6.
	Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, retinitis pigmentosa and a chronic progressive neurological disorder with ataxia.
1734303	FEMALE	Child
	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome).
	Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Neurology. 1992;42(1):194-8.
	Investigations revealed hypoprebetalipoproteinemia, acanthocytosis, atypical retinitis pigmentosa, and evidence of iron deposition in the pallidal nuclei.
1734303	FEMALE	Child
	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome).
	Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Neurology. 1992;42(1):194-8.
	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome).
3692094	FEMALE	Adult
	[Abetalipoproteinemia. Apropos of 2 cases].
	Willemin B, Coumaros D, Zerbe S, Weill-Bousson M, Annonier P, Hirsch E, Aby MA, Schmutz G, Bockel R. Gastroenterol Clin Biol. 1987;11(10):704-8.
	Both presented the complete clinical and biological features of the disease: ataxia, retinitis pigmentosa, lack of apolipoprotein B, chylomicrons, LDL and VLDL, reduced titers of serum cholesterol and triglycerides, acanthocytosis, very low levels of serum vitamin A and E. Abetalipoproteinemia is a rare autosomal inherited disease.