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Nijmegen breakage syndrome
1 OMIM reference -
1 associated gene
44 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
Alpha-thalassemia - X-linked intellectual deficit syndrome
1 OMIM reference -
1 associated gene
55 signs/symptoms
Nijmegen breakage syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome

NBN
(UniProt - OMIM)
 ATRX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NBN
(0.73)
ATRX


Citations in the biomedical literature:


Nijmegen breakage syndrome
NBN
Alpha-thalassemia - X-linked intellectual deficit syndrome
ATRX



Nijmegen breakage syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome

Synonym(s):
- AT V1
- Ataxia-telangiectasia, variant 1
- Berlin breakage syndrome
- Immunodeficiency - microcephaly - chromosomal instability
- Microcephaly - immunodeficiency - lymphoreticuloma
- NBS
- Seemanova syndrome type 2
Synonym(s):
- ATR-X syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare hematologic disease
- Rare neurologic disease
- Rare urogenital disease
Classification (ICD10):
(no data available)
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: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
2 MeSH references: D049932 / C531759
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Face / facial anomalies
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Short stature / dwarfism / nanism

Nijmegen breakage syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome

Very frequent
- Anomalies of ear and hearing
- Anus / rectum anomalies
- Autosomal recessive inheritance
- Beaked nose
- Chromosome breakage
- Depressed nasal bridge
- Hair and scalp anomalies
- Hemolytic anemia
- Hyperactivity / attention deficit
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Long / large / bulbous nose
- Low hair line-front
- Malabsorption / chronic diarrhea / steatorrhea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Philtrum deeply grooved
- Repeat respiratory infections
- Short neck
- Sloping forehead
- Thrombocytopenia / thrombopenia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Neoplasms / tumors
- Thymic aplasia / hypoplasia

Occasional
- Acute leukemia
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Excessive freckling
- Glial tumor / glioblastoma
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Lymphoma
- Medulloblastoma
- Muscle anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skin photosensitivity


Very frequent
- Ambiguous genitalia
- Flat face
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypertelorism
- Large fontanelle / delayed fontanelle closure
- Male pseudohermaphrodism / lack of virilisation
- Psychic / behavioural troubles
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Structural anomalies of the genital system
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- X-linked recessive inheritance

Frequent
- Anteverted nares / nostrils
- Autism / autistic disoders
- Epicanthic folds
- Everted lower lip
- Flattened nose
- Hemoglobinosis / hemoglobinopathy
- Hypotonia
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Micropenis / small penis / agenesis
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus
- Talipes-varus / metatarsal varus
- Telecanthus / canthal dystopy
- Thick lips

Occasional
- Anaemia
- Anomalies of teeth and dentition
- Auto-aggressivity / auto-mutilation
- Clinodactyly of fifth finger
- Colonic / intestinal volvulus
- Constipation
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalitis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Movement disorder
- Myopia
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Recurrent urinary infections
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Visual loss / blindness / amblyopia