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Monosomy 5p
1 OMIM reference -
2 associated genes
25 signs/symptoms
PROTEIN INTERACTIONS: 1
Pilomatrixoma
1 OMIM reference -
1 associated gene
No signs/symptoms info
Monosomy 5p
Pilomatrixoma

CTNND2
(UniProt - OMIM)
 CTNNB1
(UniProt - OMIM)
SEMA5A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CTNND2
(0.59)
CTNNB1


Citations in the biomedical literature:


Monosomy 5p
CTNND2 SEMA5A
Pilomatrixoma
CTNNB1



Monosomy 5p
Pilomatrixoma

Synonym(s):
- Cri du chat syndrome
- Deletion 5p
Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
2 MeSH references: C538482 / D003410
External references:
1 OMIM reference -
1 MeSH reference: D018296
Monosomy 5p

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


Pilomatrixoma

(no data available)