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Coffin-Siris syndrome
5 OMIM references -
5 associated genes
54 signs/symptoms
PROTEIN INTERACTIONS: 1
Peutz-Jeghers syndrome
1 OMIM reference -
1 associated gene
32 signs/symptoms
Coffin-Siris syndrome
Peutz-Jeghers syndrome

ARID1A
(UniProt - OMIM)
 STK11
(UniProt - OMIM)
ARID1B
(UniProt - OMIM)
SMARCA4
(UniProt - OMIM)
SMARCB1
(UniProt - OMIM)
SMARCE1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMARCA4
(0.89)
STK11


Citations in the biomedical literature:


Coffin-Siris syndrome
ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
Peutz-Jeghers syndrome
STK11



Coffin-Siris syndrome
Peutz-Jeghers syndrome

Synonym(s):
- CSS
Synonym(s):
- Hamartomatous intestinal polyposis
- PJS
- Polyps and spots syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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: child / adolescent
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
1 MeSH reference: C536436
External references:
1 OMIM reference -
1 MeSH reference: D010580
Coffin-Siris syndrome
Peutz-Jeghers 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


Very frequent
- Abnormal pigmentation of the oral mucosa / gingivae
- Autosomal dominant inheritance
- Digestive neoplasm / tumor / carcinoma / cancer
- Macules
- Pigmented naevi / naevus pigmentosus / lentigo

Frequent
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia

Occasional
- Abnormal nails colour / leukonychia / melanonychia
- Acute abdominal pain / colic
- Anaemia
- Anus / rectum anomalies
- Bladder and ureter anomalies
- Breast neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrahepatic biliary tract / gallbladder neoplasm / tumor / carcinoma / cancer
- Head and neck neoplasm / tumor / carcinoma / cancer
- Intestinal obstruction / ileus
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Mesenteric / intestinal infarction
- Nasal polyposis
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer