ORPHA:167
Chédiak-Higashi syndrome
Synonyms: Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chédiak-Higashi syndrome | Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome |
| fr | Syndrome de Chédiak-Higashi | Maladie de Chédiak-Higashi · Syndrome de Chédiak-Higashi-Steinbrinck |
| de | Chédiak-Higashi-Syndrom | Chédiak-Higashi-Krankheit · Chédiak-Higashi-Steinbrink-Syndrom |
| es | Síndrome de Chédiak-Higashi | Enfermedad de Chédiak-Higashi · Síndrome de Chédiak-Higashi-Steinbrink |
| it | Sindrome di Chédiak-Higashi | Malattia di Chédiak-Higashi disease · Sindrome di Chédiak-Higashi-Steinbrink |
| nl | Syndroom van Chédiak-Higashi | Syndroom van Chédiak-Higashi-Steinbrink · Ziekte van Chédiak-Higashi |
| pt | Síndrome Chediak-Higashi | |
| pl | Zespół Chédiaka i Higashiego | Choroba Chédiaka i Higashiego · Zespół Chédiaka, Higashiego i Steinbrinka |
| cs | Chédiakův-Higashiho syndrom | Chédiakova-Higashiho nemoc · Chédiakův-Steinbrinkův-Higashiho syndrom · Chédiak-Higashiho syndrom · Chédiak-Higashiho nemoc · Chédiak-Steinbrink-Higashiho syndrom |
| uk | Синдром Чедіака-Хігаші | Хвороба Чедіака-Хігаші · Синдром Чедіака-Хігаші-Штейнбринка |
| zh | ChÚdiak-Higashi综合征 | Chédiak-Higashi-Steinbrink综合征 |
| tr | Chediak-Higashi sendromu | Chédiak-Higashi hastalığı · Chédiak-Higashi-Steinbrink sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214500 | E | validated | |
| ICD-10 | E70.3 | NTBT | inclusion | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0008963 | E | validated | |
| MeSH | D002609 | E | validated | |
| UMLS | C0007965 | E | validated | |
| GARD | 6035 | E | validated | |
| MedDRA | 10008415 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:98456Dense granule disease
rare genetic diseases; rare hematological diseases - ORPHA:309340Disorder of lysosomal-related organelles
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:331249Primary hemophagocytic lymphohistiocytosis with hypopigmentation
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:207015Rare hereditary disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:284811Syndromic oculocutaneous albinism
rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LYST | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1968 | ENSG00000143669 | 606897 | 1q42.3 | lysosomal trafficking regulator | 20368792[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | 23541537[PMID]_10527680[PMID]_18043242[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
76 annotations · validated 2020-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001881 | Abnormal leukocyte morphology | |
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow | |
| HP:0012156 | Hemophagocytosis | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0031408 | Increased proportion of CD25+ mast cells | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0002719 | Recurrent infections | |
| HP:0001922 | Vacuolated lymphocytes | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0012176 | Abnormal natural killer cell morphology | |
| HP:0011869 | Abnormal platelet function | |
| HP:0011990 | Abnormality of neutrophil physiology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0001410 | Decreased liver function | |
| HP:0001945 | Fever | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0002721 | Immunodeficiency | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0004527 | Large clumps of pigment irregularly distributed along hair shaft | |
| HP:0000704 | Periodontitis | |
| HP:0000613 | Photophobia | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0007499 | Recurrent staphylococcal infections | |
| HP:0020096 | Recurrent streptococcal infections | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001583 | Rotary nystagmus | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0006308 | Atrophy of alveolar ridges | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0012444 | Brain atrophy | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0000726 | Dementia | |
| HP:0000969 | Edema | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000421 | Epistaxis | |
| HP:0001288 | Gait disturbance | |
| HP:0000225 | Gingival bleeding | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0002902 | Hyponatremia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0002540 | Inability to walk | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0000952 | Jaundice | |
| HP:0002716 | Lymphadenopathy | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0001324 | Muscle weakness | |
| HP:0001876 | Pancytopenia | |
| HP:0001300 | Parkinsonism | |
| HP:0001698 | Pericardial effusion | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002202 | Pleural effusion | |
| HP:0001250 | Seizure | |
| HP:0000763 | Sensory neuropathy | |
| HP:0000988 | Skin rash | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0005585 | Spotty hyperpigmentation | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 24521565[PMID]_25129365[PMID]_18043242[PMID]_29939658[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/167
- This record as JSON: /data/d/167.json