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Seckel syndrome
6 OMIM references -
6 associated genes
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
LIG4 syndrome
1 OMIM reference -
1 associated gene
34 signs/symptoms
Seckel syndrome
LIG4 syndrome

ATR
(UniProt - OMIM)
 LIG4
(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)
ATR
(0.63)
LIG4


Citations in the biomedical literature:


Seckel syndrome
ATR ATRIP CENPJ CEP152 PCNT RBBP8

LIG4 syndrome
LIG4



Seckel syndrome
LIG4 syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- DNA ligase IV deficiency
- Ligase 4 syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
1 MeSH reference: C537533
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance
- Clinodactyly of fifth finger
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism

Seckel syndrome
LIG4 syndrome

Very frequent
- Abnormal / absent ossification
- Beaked nose
- Craniostenosis / craniosynostosis / sutural synostosis
- Intrauterine growth retardation
- 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
- Chromosome breakage
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections

Frequent
- Acute leukemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Bone marrow failure / pancytopenia
- Brachycephaly / flat occiput
- Broad nasal root
- Epicanthic folds
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Long / large / bulbous nose
- Low hair line-front
- Lymphoma
- Narrow forehead
- Skin photosensitivity
- Telecanthus / canthal dystopy
- Thin / retracted lips
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anomalies of bones / skeletal anomalies
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperleukocytosis / leukocytosis
- Hypothyroidy
- Insulin-independent / type 2 diabetes
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Micropenis / small penis / agenesis
- Severe combined immune deficiency syndrome / SCID
- Telangiectasiae of the skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes