ODCs

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Nijmegen breakage syndrome

1 OMIM reference -
1 associated gene
44 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Aicardi-GoutiÃ¨res syndrome

7 OMIM references -
6 associated genes
10 signs/symptoms

Nijmegen breakage syndrome

Aicardi-GoutiÃ¨res syndrome

NBN	(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)	NBN	(0.52)	TREX1

Citations in the biomedical literature:

Nijmegen breakage syndrome		Aicardi-GoutiÃ¨res 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): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	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: child / adolescent Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 2 MeSH references: D049932 / C531759		External references: 7 OMIM references - 1 MeSH reference: C535607


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly

Nijmegen breakage syndrome		Aicardi-GoutiÃ¨res syndrome
	Very frequent - Anomalies of ear and hearing - Anus / rectum anomalies - Autosomal recessive inheritance - Beaked nose - Chromosome breakage - Depressed nasal bridge - Face / facial anomalies - 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 - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Philtrum deeply grooved - Repeat respiratory infections - Short neck - Short stature / dwarfism / nanism - 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 - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertonia / spasticity / rigidity / stiffness - Porencephaly Frequent - Coloboma of the eyelid - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Plagiocephaly - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus