ODCs

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Distal monosomy 3p

1 OMIM reference -
3 associated genes
35 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary cerebral hemorrhage with amyloidosis, Iowa type

1 OMIM reference -
1 associated gene
10 signs/symptoms

Distal monosomy 3p

Hereditary cerebral hemorrhage with amyloidosis, Iowa type

CHL1	(UniProt - OMIM)	APP	(UniProt - OMIM)
CNTN4	(UniProt - OMIM)
CRBN	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CNTN4	(0.56)	APP

Citations in the biomedical literature:

Distal monosomy 3p		Hereditary cerebral hemorrhage with amyloidosis, Iowa type
	Synonym(s): - Distal 3p deletion - Monosomy 3pter - Telomeric monosomy 3p		Synonym(s): - HCHWA, Iowa type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

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

Distal monosomy 3p		Hereditary cerebral hemorrhage with amyloidosis, Iowa type
	Very frequent - Hypertelorism - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Short stature / dwarfism / nanism - Telecanthus / canthal dystopy Frequent - Atrioventricular canal - Brachycephaly / flat occiput - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downturned mouth - Epicanthic folds - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hypotonia - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Microcephaly - Postaxial polydactyly (hand) - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anteverted nares / nostrils - Blepharophimosis / short palpebral fissures - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Inguinal / inguinoscrotal / crural hernia - Sacral sinus / dimple - Seizures / epilepsy / absences / spasms / status epilepticus - Short neck - Thin / retracted lips - Triangular face - Umbilical hernia		Very frequent - Abnormal gait - Autosomal dominant inheritance - Cerebral vascular anomalies - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Intracranial / cerebral / meningeal hemorrhage - Myoclonus / fasciculations - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Transient cerebral ischemia / stroke - Troubles of memory / amnesia / hypermnesia