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Pycnodysostosis
1 OMIM reference -
1 associated gene
42 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
LIG4 syndrome
1 OMIM reference -
1 associated gene
34 signs/symptoms
Pycnodysostosis
LIG4 syndrome

CTSK
(UniProt - OMIM)
 LIG4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CTSK
(0.63)
LIG4


Citations in the biomedical literature:


Pycnodysostosis
CTSK
LIG4 syndrome
LIG4



Pycnodysostosis
LIG4 syndrome

Synonym(s):
- Pyknodysostosis
Synonym(s):
- DNA ligase IV deficiency
- Ligase 4 syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: 1-9 / 1 000 000
Average age onset: variable
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:
1 OMIM reference -
1 MeSH reference: D058631
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Anomalies of bones / skeletal anomalies
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intellectual deficit / mental / psychomotor retardation / learning disability

Pycnodysostosis
LIG4 syndrome

Very frequent
- Anomalies of spine, vertebrae and pelvis
- Clavicle absent / abnormal
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Dysplastic / thick / grooved fingernails
- Epiphyseal anomaly
- Face / facial anomalies
- Frontal bossing / prominent forehead
- High forehead
- High vaulted / narrow palate
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Mid-facial hypoplasia / short / small midface
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / small fingernails / anonychia of hands
- Blue sclerae
- Bone pain
- Proptosis / exophthalmos
- Tooth shape anomaly
- Wormian bones

Occasional
- Anaemia
- Hydrocephaly
- Kyphosis
- Lordosis
- Nails anomalies
- Narrow rib cage / thorax
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory rhythm disorder
- Splenomegaly


Very frequent
- Chromosome breakage
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Microcephaly

Frequent
- Acute leukemia
- Bone marrow failure / pancytopenia
- Broad nasal root
- Epicanthic folds
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Long / large / bulbous nose
- Low hair line-front
- Lymphoma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow forehead
- Skin photosensitivity
- Telecanthus / canthal dystopy
- Thin / retracted lips
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Clinodactyly of fifth finger
- 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