Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads...
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"leucistic" appearance include piebaldism, Waardenburg syndrome, vitiligo, Chédiak–Higashi syndrome, flavism, isabellinism, xanthochromism, axanthism, amelanism...
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Paris (France). Chédiak–Higashi syndrome Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978). "A syndrome associating partial...
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susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation...
39 KB (3,838 words) - 18:43, 1 September 2024
ferrets were deaf." Chédiak–Higashi syndrome, a similar syndrome including immunodeficiency and peripheral neuropathy Tietz syndrome, a condition similar...
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which reacted strangely to the anaesthesia. Mohini was checked for Chédiak–Higashi syndrome in 1960, but the results were inconclusive. This condition is similar...
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articular syndrome Chronic Lyme disease Chronic prostatitis/chronic pelvic pain syndrome Churg–Strauss syndrome Chédiak–Higashi syndrome Claude's syndrome Clinically...
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Café au lait spot (redirect from Cafe au lait spots syndrome)
Ataxia–telangiectasia Basal cell nevus syndrome Benign congenital skin lesion Bloom syndrome Chédiak–Higashi syndrome Congenital melanocytic naevus Fanconi...
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wherein impaired chemotaxis is the primary etiological factor, as in Chédiak–Higashi syndrome, where giant intracellular vesicles inhibit normal migration of...
66 KB (7,473 words) - 16:38, 12 September 2024
List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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disorders are severe combined immunodeficiency (SCID), Chédiak–Higashi syndrome, Wiskott–Aldrich syndrome (an X-linked recessive disorder), and ataxia–telangiectasia...
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oxygen-dependent killing. Other rare congenital abnormalities, such as Chédiak–Higashi syndrome, are also associated with defective killing of ingested microbes...
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Klinefelter syndrome, Chédiak–Higashi syndrome, ataxia–telangiectasia syndrome.[citation needed] Autoimmune diseases, like Sjögren syndrome, celiac disease...
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trafficking regulator is a vesicular transport protein associated with Chédiak–Higashi syndrome. In melanocytic cells LYST gene expression may be regulated by...
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Chimo. Chimo died in 1972 from complications caused by Chédiak–Higashi syndrome, the syndrome which caused her albinism. Chimo never bore any calves....
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different protein having a role in pigment production. People with Chédiak–Higashi syndrome have a buildup of melanin granules due to abnormal function of...
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blindness. Hermansky–Pudlak syndrome. Effects include a bleeding disorder, IBS, and fibrocystic lung conditions. Chédiak–Higashi syndrome. Similar to OCA but...
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Gray platelet syndrome Quebec platelet disorder Dense granules δ-Storage pool deficiency Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Platelet storage...
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neutrophils (pseudo Pelger-Huet) Hypogranular neutrophils or pseudo Chediak-Higashi (large azurophilic granules) Auer rods – automatically RAEB II (if...
64 KB (7,099 words) - 23:51, 19 August 2024
tend to occur in Persians. Blue smoke Persians are predisposed to Chédiak–Higashi syndrome. White cats, including white Persians, are prone to deafness, especially...
78 KB (8,225 words) - 03:08, 16 September 2024
blood vessels due to surface receptor mutations, digest bacteria (Chédiak–Higashi syndrome), or produce microbicides (chronic granulomatous disease). In addition...
97 KB (9,537 words) - 01:09, 13 September 2024
absence of the melanin-synthesising enzymes (in conditions such as Chédiak–Higashi syndrome) leads to various patterns of albinism. In some melanocytes, the...
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includes ataxia–telangiectasia, Chédiak–Higashi syndrome, DiGeorge syndrome, Griscelli syndrome and Marinesco–Sjögren syndrome. There is no known curative...
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Immunodeficiency with hypopigmentation or albinism: Chédiak–Higashi syndrome, Griscelli syndrome type 2 Familial hemophagocytic lymphohistiocytosis: perforin...
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Charles Bonnet syndrome – Charles Bonnet Cheadle disease – Walter Butler Cheadle Chédiak–Higashi syndrome – Alexander Chédiak, Otokata Higashi Chiari malformation...
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poisoning Berlin syndrome Pigmentation changes caused by the bioaccumulation of pigments, e.g. Canthaxanthin Chédiak–Higashi syndrome Chrysiasis Cross–McKusick–Breen...
198 KB (17,965 words) - 01:59, 16 September 2024
Chimo. Chimo died in 1972 from complications caused by Chédiak–Higashi syndrome, the syndrome which caused her albinism. Chimo never bore any calves....
152 KB (17,544 words) - 05:21, 16 September 2024
List of systemic diseases with ocular manifestations (section Chromosomal disorders and genetic syndromes)
B, and D Whipple's disease Albinism Alkaptonuria Amyloidosis Chediak–Higashi syndrome Cystinosis Fabry's disease Galactosemia Gaucher's disease Gout...
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diminished ability to fight bacterial infection. Examples include: Hyperimmunoglobulin E syndrome Chédiak–Higashi syndrome Chronic granulomatous disease v t e...
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Severe congenital neutropenia (redirect from Kostmann syndrome)
congenital diseases such as Shwachman–Diamond syndrome, Barth syndrome, Chédiak–Higashi syndrome, WHIM syndrome, and glycogen storage disease type Ib. A further...
20 KB (1,976 words) - 22:07, 2 December 2023