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Congenital lethal myopathy, Compton-North type

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Acroosteolysis dominant type

2 OMIM references -
1 associated gene
84 signs/symptoms

Congenital lethal myopathy, Compton-North type

Acroosteolysis dominant type

CNTN1

(UniProt - OMIM)

NOTCH2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CNTN1	(0.73)	NOTCH2

Citations in the biomedical literature:

Congenital lethal myopathy, Compton-North type		Acroosteolysis dominant type
	Synonym(s): (no synonyms)		Synonym(s): - Acrodentoosteodysplasia - Acroosteolysis with osteoporosis and changes in skull and mandible - Arthro-dento-ostÃ©odysplasie - Arthrodentoosteodysplasia - Cheney syndrome - Hajdu-Cheney syndrome

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 3 MeSH references: C531695 / C535663 / D031845

Acroosteolysis dominant type
	Very frequent - Alveolysis / paraodontitis - Autosomal dominant inheritance - Distal phalangeal bones of toes hypoplasia / absence - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial dysmorphism - Hypertelorism - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Poorly ossified skull / calvarium - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Skull / cranial anomalies - Terminal / third phalangeal bone of fingers hypoplasia - Thick / bushy eyebrows Frequent - Abnormal fingernails - Abnormal vertebral size / shape - Anomalies of teeth and dentition - Anteverted nares / nostrils - Arnold-Chiari anomaly - Articular / joint pain / arthralgia - Basilary impression / invagination / cranio-spinal malformation / platybasia - Bone pain - Broad cheeks / cherub-like / cherubin face - Cleft lip and palate - Coarse face - Dental malocclusion - Dolichocephaly / scaphocephaly - Downturned mouth - Frontal sinus agenesis / anomaly - Hearing loss / hypoacusia / deafness - Hirsutism / hypertrichosis / Increased body hair - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Mutiple fractures / bone fragility - Prominent occiput / occipital bossing - Scoliosis - Short neck - Telecanthus / canthal dystopy - Thin / retracted lips - Wormian bones Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Bowed diaphysis / diaphyses / long bones - Broad nasal root - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coarse / thick hair - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat cheek bones / malar hypoplasia - Hepatomegaly / liver enlargement (excluding storage disease) - Hydrocephaly - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intestinal / gut / bowel malrotation - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Low hair line-front - Low set ears / posteriorly rotated ears - Mitral valve atresia / stenosis / narrowing - Myopia - Patella dislocation - Patent ductus arteriosus - Pectus carinatum - Peripheral neuropathy - Polycystic kidneys - Repeat respiratory infections - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Splenomegaly - Synophris / synophrys - Syringomelia - Terminal broadening / clubbing of toes - Thick skin / pachydermia / orange skin - Umbilical hernia - Ventricular septal defect / interventricular communication
Congenital lethal myopathy, Compton-North type
(no data available)