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Seckel syndrome
6 OMIM references -
6 associated genes
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Chédiak-Higashi syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
Seckel syndrome
Chédiak-Higashi syndrome

ATR
(UniProt - OMIM)
 LYST
(UniProt - OMIM)
ATRIP
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
PCNT
(UniProt - OMIM)
RBBP8
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CENPJ
(0.63)
LYST


Citations in the biomedical literature:


Seckel syndrome
ATR ATRIP CENPJ CEP152 PCNT RBBP8

Chédiak-Higashi syndrome
LYST



Seckel syndrome
Chédiak-Higashi syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Chédiak-Higashi disease
- Chédiak-Higashi-Steinbrink syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
1 MeSH reference: C537533
External references:
1 OMIM reference -
1 MeSH reference: D002609
COMMON
SIGNS 		- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability

Seckel syndrome
Chédiak-Higashi syndrome

Very frequent
- Abnormal / absent ossification
- Beaked nose
- Clinodactyly of fifth finger
- Craniostenosis / craniosynostosis / sutural synostosis
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Premature ageing
- Short stature / dwarfism / nanism
- Small / hypoplastic / adherent / absent ear lobe
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Frequent
- Anodontia / oligodontia / hypodontia
- Cone epiphyses / epiphysis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Enamel anomaly
- Glaucoma
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Occasional
- Scoliosis


Very frequent
- Albinism (hair)
- Alveolysis / paraodontitis
- Anaemia
- Areflexia / hyporeflexia
- Bone marrow / medullar infiltration
- Bruisability
- Chronic skin infection / ulcerations / ulcers / cancrum
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Fever / chilling
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Gingivorrhagia / gingival bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Iris albinism / ocular albinism
- Lymphadenopathy / polyadenopathies
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peripheral neuropathy
- Polynuclear cells / neutrophils anomalies / neutropenia
- Repeat respiratory infections
- Splenomegaly
- Thrombocytopenia / thrombopenia

Frequent
- Ecchymoses
- Epistaxis / nose bleeding
- Nystagmus
- Photophobia
- Tremor
- Visual loss / blindness / amblyopia

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Early death / lethality
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Hypertonia / spasticity / rigidity / stiffness
- Movement disorder
- Psychic / psychomotor regression / dementia / intellectual decline