ODCs

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Hoyeraal-Hreidarsson syndrome

1 OMIM reference -
4 associated genes
28 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

Hoyeraal-Hreidarsson syndrome

Baraitser-Winter syndrome

DKC1	(UniProt - OMIM)	ACTB	(UniProt - OMIM)
RTEL1	(UniProt - OMIM)	ACTG1	(UniProt - OMIM)
TERT	(UniProt - OMIM)
TINF2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TINF2	(0.63)	ACTB

Citations in the biomedical literature:

Hoyeraal-Hreidarsson syndrome		Baraitser-Winter syndrome
	Synonym(s): - Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia		Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome

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


COMMON SIGNS	- Autosomal recessive inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly

Hoyeraal-Hreidarsson syndrome		Baraitser-Winter syndrome
	Very frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Purpura / petichiae - Short stature / dwarfism / nanism - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Anaemia - Clotting / hemostasis disorders - 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 - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Broad cheeks / cherub-like / cherubin face - Broad nose / nasal bridge - Coarse face - Coloboma of iris - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epicanthic folds - Euryblepharon / wide palpebral fissures - High arched eyebrows - Hypertelorism - Long philtrum - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Pointed chin - Prominent metopic suture - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short columella / depressed nasal tip - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Telecanthus / canthal dystopy - Thin / retracted lips Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Heterochromia / mixed colouring of iris - Large fontanelle / delayed fontanelle closure - Long / large / bulbous nose - Low hair line (back) - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Restricted joint mobility / joint stiffness / ankylosis - Retinoschisis / retinal / chorioretinal coloboma - Short neck - Trigonocephaly Occasional - Coloboma of the optic nerve - Microcornea - Puffy eyelids - Scoliosis - Thumb duplication / distal bifid thumb phalangeal bone - Transient cerebral ischemia / stroke - Webbed neck / pterygium colli