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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
54 signs/symptoms
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Coffin-Siris syndrome

NF1 ARID1A
ARID1B
SMARCA4
SMARCB1
SMARCE1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NF1
(0.63)
SMARCA4



Citations in the biomedical literature:


Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
NF1
Coffin-Siris syndrome
ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1



Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Coffin-Siris syndrome

Synonym(s):
- Von Recklinghausen disease due to NF1 mutation or intragenic deletion

Synonym(s):
- CSS

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- 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: child / adolescent
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: C536436

Coffin-Siris syndrome

Very frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Coarse face
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hirsutism / hypertrichosis / Increased body hair
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / thick / curved lashes / trichomegaly / polytrichia
- Microcephaly
- Short stature / dwarfism / nanism
- slow growth of the hair
- Terminal / third phalangeal bone of fingers hypoplasia
- Thick lips
- Thick / bushy eyebrows

Frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Congenital cardiac anomaly / malformation / cardiopathy
- Dandy-Walker anomaly
- Depressed nasal bridge
- Elbow dislocation
- Flattened nose
- Hearing loss / hypoacusia / deafness
- Hyperextensible joints / articular hyperlaxity
- Intrauterine growth retardation
- Macrostomia / big mouth
- Nystagmus
- Patella absent / abnormal (excluding luxation)
- Repeat respiratory infections
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Absent / small toenails / anonychia of feet
- Agenesis / hypoplasia / aplasia of kidneys
- Anomalies of spine, vertebrae and pelvis
- Cataract / lens opacification
- Clavicle absent / abnormal
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Cutis marmorata / marbled skin / livedo
- Defect / anomaly of lacrimal system
- Diaphragmatic hernia / defect / agenesis
- Dilated cerebral ventricles without hydrocephaly
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- Herniae
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intervertebral disk anomaly
- Kyphosis
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Ptosis
- Short philtrum
- Simian crease / transverse / unique palmar crease
- Spina bifida occulta


Neurofibromatosis type 1 due to NF1mutation or intragenic deletion

(no data available)