Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
49 signs/symptoms
17p13.3 microduplication syndrome
Camurati-Engelmann disease

PAFAH1B1 TGFB1
YWHAE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.88)
TGFB1



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Camurati-Engelmann disease
TGFB1



17p13.3 microduplication syndrome
Camurati-Engelmann disease

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

Synonym(s):
- Progressive diaphyseal dysplasia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D003966


COMMON
SIGNS
- Frontal bossing / prominent forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana


17p13.3 microduplication syndrome
Camurati-Engelmann disease

Very frequent
- Broad nose / nasal bridge
- High forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- High vaulted / narrow palate
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


Very frequent
- Anomalies of spine, vertebrae and pelvis
- Autosomal dominant inheritance
- Bone pain
- Cortical anomaly / thick bone cortical layer
- Diaphyseal anomaly
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hyperostosis
- Osteosclerosis / osteopetrosis / bone condensation
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Skull / cranial anomalies
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Frequent
- Abnormal gait
- Metaphyseal anomaly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis

Occasional
- Abnormal fat distribution / lipodystrophy
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anaemia
- Anorexia
- Ataxia / incoordination / trouble of the equilibrium
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Bladder and ureter anomalies
- Cardiomyopathy / hypertrophic / dilated
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Facial dysmorphism
- Facial palsy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flat foot
- Genu valgum
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Leukopenia / hypoleukocytosis
- Lordosis
- Marfanoid morphotype
- Multiple caries
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proptosis / exophthalmos
- Scoliosis
- Sensitive trouble / deficit
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly