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Osteopathia striata - cranial sclerosis
1 OMIM reference -
1 associated gene
32 signs/symptoms
PROTEIN INTERACTIONS: 1
Desmoid tumor
1 OMIM reference -
2 associated genes
21 signs/symptoms
Osteopathia striata - cranial sclerosis
Desmoid tumor

AMER1
(UniProt - OMIM)
 APC
(UniProt - OMIM)
CTNNB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AMER1
(0.63)
APC


Citations in the biomedical literature:


Osteopathia striata - cranial sclerosis
AMER1
Desmoid tumor
APC CTNNB1



Osteopathia striata - cranial sclerosis
Desmoid tumor

Synonym(s):
- Hyperostosis generalisata with striations
- Robinow-Unger syndrome
Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: C536053
External references:
1 OMIM reference -
No MeSH references
Osteopathia striata - cranial sclerosis
Desmoid tumor

Very frequent
- Autosomal dominant inheritance
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rough trabeculation of bone

Frequent
- Broad nasal root
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Flat face
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Scoliosis

Occasional
- Asymmetric rib cage / thorax
- Brachycephaly / flat occiput
- Cataract / lens opacification
- Enlargment of jaw / large jaw
- Epicanthic folds
- Facial palsy
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Lordosis
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Spina bifida occulta
- Stillbirth / neonatal death


Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain
- Polyposis of the bowel / colon / intestine

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Early death / lethality
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain