ODCs

Cytoscape Web

Click node...

Hoyeraal-Hreidarsson syndrome

1 OMIM reference -
4 associated genes
28 signs/symptoms

PROTEIN INTERACTIONS: 1

Loeys-Dietz syndrome type 1

2 OMIM references -
2 associated genes
29 signs/symptoms

Hoyeraal-Hreidarsson syndrome

Loeys-Dietz syndrome type 1

DKC1	(UniProt - OMIM)		TGFBR1	(UniProt - OMIM)
RTEL1	(UniProt - OMIM)		TGFBR2	(UniProt - OMIM)
TERT	(UniProt - OMIM)
TINF2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TERT	(0.63)	TGFBR2

Citations in the biomedical literature:

Hoyeraal-Hreidarsson syndrome		Loeys-Dietz syndrome type 1
	Synonym(s): - Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia		Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536068		External references: 2 OMIM references - No MeSH references

Hoyeraal-Hreidarsson syndrome		Loeys-Dietz syndrome type 1
	Very frequent - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Short stature / dwarfism / nanism - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Anaemia - Clotting / hemostasis disorders - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hyperpigmentation / melanoderma - Dilated cerebral ventricles without hydrocephaly - Enanthema / aphtosa / aphta / leukoplakia - Hypertonia / spasticity / rigidity / stiffness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Nails anomalies - Rippled skin Occasional - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Bone marrow failure / pancytopenia - Intracranial / cerebral calcifications - Neoplasms / tumors - White cell disorders		Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - Autosomal dominant inheritance - Flat foot - High vaulted / narrow palate - Palate anomalies - Patent ductus arteriosus - Uterine rupture Frequent - Abnormal scarring / cheloids / hypertrophic scars - Blue sclerae - Camptodactyly of fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Long hand / arachnodactyly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Striae - Tall stature / gigantism / growth acceleration Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Craniostenosis / craniosynostosis / sutural synostosis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Pectus carinatum - Pectus excavatum - Thin skin