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Bohring-Opitz syndrome
1 OMIM reference -
1 associated gene
52 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
Weaver syndrome
1 OMIM reference -
2 associated genes
37 signs/symptoms
Bohring-Opitz syndrome
Weaver syndrome

ASXL1
(UniProt - OMIM)
 EZH2
(UniProt - OMIM)
NSD1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ASXL1
(0.76)
EZH2


Citations in the biomedical literature:


Bohring-Opitz syndrome
ASXL1
Weaver syndrome
EZH2 NSD1



Bohring-Opitz syndrome
Weaver syndrome

Synonym(s):
- BOS syndrome
- Bohring syndrome
- C-like syndrome
- Oberklaid-Danks syndrome
- Opitz trigonocephaly-like syndrome
Synonym(s):
- Camptodactyly - overgrowth - unusual facies
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536687
COMMON
SIGNS 		- Camptodactyly of fingers
- Congenital cardiac anomaly / malformation / cardiopathy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertelorism
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus

Bohring-Opitz syndrome
Weaver syndrome

Very frequent
- Beaked nose
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coarse / thick hair
- Flat supraorbital ridge
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Low hair line-front
- Microcephaly
- Narrow forehead
- Proptosis / exophthalmos
- Trigonocephaly
- Ulnar deviation of fingers
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Abnormally placed nipples
- Anomalies of spine, vertebrae and pelvis
- Anterior chamber anomaly
- Cleft lip
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Intestinal / gut / bowel malrotation
- Narrow rib cage / thorax
- Oral synechiae / abnormal frenulae
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short rib cage / thorax
- Strabismus / squint
- Structural anomalies of the pancreas
- Supernumerary nipples / polythelia
- Synophris / synophrys

Occasional
- Dandy-Walker anomaly
- Hearing loss / hypoacusia / deafness
- Myopia
- Polyhydramnios
- Renal / kidney anomalies
- Small foot


Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Advanced bone age
- Broad forehead
- Hypertonia / spasticity / rigidity / stiffness
- Long philtrum
- Long / large ear
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Tall stature / gigantism / growth acceleration
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails

Frequent
- Broad foot
- Broad / bifid thumb
- Fine hair
- Large hand
- Philtrum deeply grooved
- Round face

Occasional
- Autosomal dominant inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperextensible joints / articular hyperlaxity
- Micropenis / small penis / agenesis
- Pes cavus
- Scoliosis
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes