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Boomerang dysplasia
1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Aicardi-Goutières syndrome
7 OMIM references -
6 associated genes
10 signs/symptoms
Boomerang dysplasia
Aicardi-Goutières syndrome

FLNB
(UniProt - OMIM)
 ADAR
(UniProt - OMIM)
RNASEH2A
(UniProt - OMIM)
RNASEH2B
(UniProt - OMIM)
RNASEH2C
(UniProt - OMIM)
SAMHD1
(UniProt - OMIM)
TREX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FLNB
(0.63)
SAMHD1


Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Aicardi-Goutières syndrome
ADAR RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1



Boomerang dysplasia
Aicardi-Goutières syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Encephalopathy with basal ganglia calcification
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536573
External references:
7 OMIM references -
1 MeSH reference: C535607
Boomerang dysplasia
Aicardi-Goutières syndrome

Very frequent
- Abnormal / absent ossification
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Lack / delayed ossification of spine / vertebrae
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Metacarpal anomalies / Archibald's sign
- Omphalocele / exomphalos
- Polyhydramnios
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Very frequent
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Porencephaly

Frequent
- Coloboma of the eyelid
- Hemiplegia / diplegia / hemiparesia / limb palsy

Occasional
- Microcephaly
- Plagiocephaly
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus