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

Attenuated Chédiak-Higashi syndrome
LYST



Seckel syndrome
Attenuated Chédiak-Higashi syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Atypical Chédiak-Higashi syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
1 MeSH reference: C537533
External references:
No OMIM references
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability

Seckel syndrome
Attenuated 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
- Bruisability
- Chronic skin infection / ulcerations / ulcers / cancrum
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Iris albinism / ocular albinism
- Peripheral neuropathy
- Repeat respiratory infections

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Hypertonia / spasticity / rigidity / stiffness