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Monosomy 5p
1 OMIM reference -
2 associated genes
19 connected diseases
25 signs/symptoms
Disease Type of connection
Early-onset autosomal dominant Alzheimer disease
Familial isolated dilated cardiomyopathy
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Dentatorubral pallidoluysian atrophy
Familial amyloid polyneuropathy
Transthyretin-related familial amyloid cardiomyopathy
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Familial gastric cancer
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Severe combined immunodeficiency due to LCK deficiency
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- Cri du chat syndrome
- Deletion 5p
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
2 MeSH references: C538482 / D003410
Gene symbol UniProt reference OMIM reference
CTNND2 Q9UQB3604275
SEMA5A Q13591609297
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Broad nasal root
- Epicanthic folds
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Round face
- Total / partial trisomy / duplication

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High vaulted / narrow palate
- Hypertelorism
- Intrauterine growth retardation
- Scoliosis
- Short neck
- Short stature / dwarfism / nanism
- Small hand / acromicria

Occasional
- Abnormal / absent ossification
- Congenital cardiac anomaly / malformation / cardiopathy
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Mutiple fractures / bone fragility
- Preauricular / branchial tags / appendages
- Syndactyly of fingers / interdigital palm