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Chédiak-Higashi syndrome(CHS)

MedGen UID:
3347
Concept ID:
C0007965
Disease or Syndrome
Synonyms: Chediak-Higashi Syndrome; CHS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Chediak-Steinbrinck-Higashi syndrome (111396008); Chediak-Higashi syndrome (111396008); Hereditary gigantism of cytoplasmic organelles (111396008); Granulation anomaly of leukocytes (111396008); Congenital gigantism of peroxidase granules (111396008); Beguez Cesar disease (111396008); Chediak anomaly (111396008); Chediak-Steinbrinck anomaly (111396008); Chédiak-Higashi syndrome (111396008); Chédiak anomaly (111396008); Chédiak-Steinbrinck anomaly (111396008); Hereditary leukomelanopathy (111396008); Steinbrinck anomaly (111396008); Béguez César disease (111396008); Chediak Higashi syndrome (111396008)
 
Gene (location): LYST (1q42.3)
OMIM®: 214500
Orphanet: ORPHA167

Disease characteristics

Excerpted from the GeneReview: Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, a lymphoproliferative infiltration of the bone marrow and reticuloendothelial system. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood. [from GeneReviews]
Authors:
Wendy J Introne  |  Wendy Westbroek  |  Gretchen A Golas, et. al.   view full author information

Additional description

From GHR
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and light-colored hair, often with a metallic sheen. Oculocutaneous albinism also causes vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).Many people with Chediak-Higashi syndrome have problems with blood clotting (coagulation) that lead to easy bruising and abnormal bleeding. In adulthood, Chediak-Higashi syndrome can also affect the nervous system, causing weakness, clumsiness, difficulty with walking, and seizures.If the disease is not successfully treated, most children with Chediak-Higashi syndrome reach a stage of the disorder known as the accelerated phase. This severe phase of the disease is thought to be triggered by a viral infection. In the accelerated phase, white blood cells (which normally help fight infection) divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood.A small percentage of people with Chediak-Higashi syndrome have a milder form of the condition that appears later in life. People with the adult form of the disorder have less noticeable changes in pigmentation and are less likely to have recurrent, severe infections. They do, however, have a significant risk of progressive neurological problems such as tremors, difficulty with movement and balance (ataxia), reduced sensation and weakness in the arms and legs (peripheral neuropathy), and a decline in intellectual functioning.  https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome

Clinical features

Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Gingivitis
MedGen UID:
4895
Concept ID:
C0017574
Disease or Syndrome
A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
A decrease in the number of LEUKOCYTES in a blood sample below the normal range (LEUKOCYTE COUNT less than 4000).
Neurodegeneration
MedGen UID:
17999
Concept ID:
C0027746
Cell or Molecular Dysfunction
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Cranial nerve paralysis
MedGen UID:
57717
Concept ID:
C0151311
Disease or Syndrome
Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
Iris hypopigmentation
MedGen UID:
509721
Concept ID:
C0154920
Finding
An abnormal reduction in the amount of pigmentation of the iris.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
An enlarged lymph node. Causes include viral and bacterial infections and cancers that affect the lymph nodes.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
A finding referring to walking difficulties.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Recurrent bacterial skin infections
MedGen UID:
322727
Concept ID:
C1835686
Finding
Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.
Macular hypoplasia
MedGen UID:
340322
Concept ID:
C1849412
Finding
Underdevelopment of the macula lutea.
Decreased nerve conduction velocity
MedGen UID:
347509
Concept ID:
C1857640
Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Progressive peripheral neuropathy
MedGen UID:
347816
Concept ID:
C1859178
Finding
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Giant melanosomes in melanocytes
MedGen UID:
812551
Concept ID:
C3806221
Finding
The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.
MedGen UID:
505806
Concept ID:
CN004817

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChédiak-Higashi syndrome
Follow this link to review classifications for Chédiak-Higashi syndrome in Orphanet.

Recent clinical studies

Etiology

Umeda K, Adachi S, Horikoshi Y, Imai K, Terui K, Endo M, Mitsui T, Kato K, Koh K, Kajiwara R, Ito R, Otsuka Y, Inoue M, Ishii E, Yabe H
Pediatr Transplant 2016 Mar;20(2):271-5. Epub 2015 Oct 29 doi: 10.1111/petr.12626. PMID: 26511512
Lolli V, Soto Ares G, Pruvo JP, Abou Chahla W, Jissendi-Tchofo P
Pediatr Radiol 2015 Jul;45(8):1253-7. Epub 2015 Feb 10 doi: 10.1007/s00247-014-3256-x. PMID: 25875633
Lozano ML, Rivera J, Sánchez-Guiu I, Vicente V
Orphanet J Rare Dis 2014 Aug 18;9:132. doi: 10.1186/s13023-014-0132-6. PMID: 25129365Free PMC Article
Nagai K, Ochi F, Terui K, Maeda M, Ohga S, Kanegane H, Kitoh T, Kogawa K, Suzuki N, Ohta S, Ishida Y, Okamura T, Wakiguchi H, Yasukawa M, Ishii E
Pediatr Blood Cancer 2013 Oct;60(10):1582-6. Epub 2013 Jun 27 doi: 10.1002/pbc.24637. PMID: 23804531
Jessen B, Maul-Pavicic A, Ufheil H, Vraetz T, Enders A, Lehmberg K, Längler A, Gross-Wieltsch U, Bay A, Kaya Z, Bryceson YT, Koscielniak E, Badawy S, Davies G, Hufnagel M, Schmitt-Graeff A, Aichele P, Zur Stadt U, Schwarz K, Ehl S
Blood 2011 Oct 27;118(17):4620-9. Epub 2011 Aug 30 doi: 10.1182/blood-2011-05-356113. PMID: 21878672

Diagnosis

Zhang Y, Gao Z, Yu X
Pediatr Transplant 2017 Nov;21(7) Epub 2017 Aug 1 doi: 10.1111/petr.13014. PMID: 28762620
Wu XL, Zhao XQ, Zhang BX, Xuan F, Guo HM, Ma FT
Braz J Med Biol Res 2017 Mar 23;50(4):e5727. doi: 10.1590/1414-431X20165727. PMID: 28355352Free PMC Article
Helmi MM, Saleh M, Yacop B, ElSawy D
BMJ Case Rep 2017 Feb 9;2017 doi: 10.1136/bcr-2016-216628. PMID: 28183707
Maaloul I, Talmoudi J, Chabchoub I, Ayadi L, Kamoun TH, Boudawara T, Kallel CH, Hachicha M
Hematol Oncol Stem Cell Ther 2016 Jun;9(2):71-5. Epub 2015 Aug 1 doi: 10.1016/j.hemonc.2015.07.002. PMID: 26254864
True VL, Monsell FP, Smith TA, Parke SC, Grier DJ, Schneider ME, Steward CG
J Pediatr Orthop B 2015 Nov;24(6):526-9. doi: 10.1097/BPB.0000000000000190. PMID: 25967956

Therapy

Yamada T, Chen-Yoshikawa TF, Oh S, Ito-Taniguchi R, Gochi F, Sato M, Aoyama A, Date H
Ann Thorac Surg 2017 Mar;103(3):e281-e283. doi: 10.1016/j.athoracsur.2016.08.049. PMID: 28219570
True VL, Monsell FP, Smith TA, Parke SC, Grier DJ, Schneider ME, Steward CG
J Pediatr Orthop B 2015 Nov;24(6):526-9. doi: 10.1097/BPB.0000000000000190. PMID: 25967956
Lolli V, Soto Ares G, Pruvo JP, Abou Chahla W, Jissendi-Tchofo P
Pediatr Radiol 2015 Jul;45(8):1253-7. Epub 2015 Feb 10 doi: 10.1007/s00247-014-3256-x. PMID: 25875633
Nagai K, Ochi F, Terui K, Maeda M, Ohga S, Kanegane H, Kitoh T, Kogawa K, Suzuki N, Ohta S, Ishida Y, Okamura T, Wakiguchi H, Yasukawa M, Ishii E
Pediatr Blood Cancer 2013 Oct;60(10):1582-6. Epub 2013 Jun 27 doi: 10.1002/pbc.24637. PMID: 23804531
Imran T, Zafar L, Rehan M, Nasir A, Tariq PA, Batool I
J Coll Physicians Surg Pak 2012 Aug;22(8):539-41. doi: 08.2012/JCPSP.539541. PMID: 22868026

Prognosis

Zhang Y, Gao Z, Yu X
Pediatr Transplant 2017 Nov;21(7) Epub 2017 Aug 1 doi: 10.1111/petr.13014. PMID: 28762620
Singh A, Bryan MM, Roney JC, Cullinane AR, Gahl WA, Khurana N, Kapoor S
Int J Dermatol 2016 Mar;55(3):317-21. Epub 2015 Oct 24 doi: 10.1111/ijd.13019. PMID: 26499269
Maaloul I, Talmoudi J, Chabchoub I, Ayadi L, Kamoun TH, Boudawara T, Kallel CH, Hachicha M
Hematol Oncol Stem Cell Ther 2016 Jun;9(2):71-5. Epub 2015 Aug 1 doi: 10.1016/j.hemonc.2015.07.002. PMID: 26254864
Lolli V, Soto Ares G, Pruvo JP, Abou Chahla W, Jissendi-Tchofo P
Pediatr Radiol 2015 Jul;45(8):1253-7. Epub 2015 Feb 10 doi: 10.1007/s00247-014-3256-x. PMID: 25875633
Nielsen C, Agergaard CN, Jakobsen MA, Møller MB, Fisker N, Barington T
J Pediatr Hematol Oncol 2015 Mar;37(2):e73-9. doi: 10.1097/MPH.0000000000000300. PMID: 25551669

Clinical prediction guides

Mathis S, Cintas P, de Saint-Basile G, Magy L, Funalot B, Vallat JM
J Neurol Sci 2014 Sep 15;344(1-2):203-7. Epub 2014 Jun 21 doi: 10.1016/j.jns.2014.06.026. PMID: 25043664
Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C
Orphanet J Rare Dis 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46. PMID: 23521865Free PMC Article
Jessen B, Maul-Pavicic A, Ufheil H, Vraetz T, Enders A, Lehmberg K, Längler A, Gross-Wieltsch U, Bay A, Kaya Z, Bryceson YT, Koscielniak E, Badawy S, Davies G, Hufnagel M, Schmitt-Graeff A, Aichele P, Zur Stadt U, Schwarz K, Ehl S
Blood 2011 Oct 27;118(17):4620-9. Epub 2011 Aug 30 doi: 10.1182/blood-2011-05-356113. PMID: 21878672
de Chadarévian JP
Ultrastruct Pathol 2011 Aug;35(4):172-5. Epub 2011 Jun 9 doi: 10.3109/01913123.2011.584656. PMID: 21657820
Kaplan J, De Domenico I, Ward DM
Curr Opin Hematol 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. PMID: 18043242

Recent systematic reviews

White JG
Crit Rev Oncol Hematol 1986;4(4):337-77. PMID: 3513985

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