ODCs

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Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Orofaciodigital syndrome type 1

1 OMIM reference -
1 associated gene
67 signs/symptoms

Monomelic amyotrophy

Orofaciodigital syndrome type 1

C5ORF42	(UniProt - OMIM)		OFD1	(UniProt - OMIM)
KIAA1377	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIAA1377	(0.63)	OFD1

Citations in the biomedical literature:

Monomelic amyotrophy		Orofaciodigital syndrome type 1
	Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb		Synonym(s): - OFD1 - OFDI - OFDSI - Oral-facial-digital syndrome type 1 - Papillon-LÃ©age-Psaume syndrome

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C538253		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Tremor

Monomelic amyotrophy		Orofaciodigital syndrome type 1
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Upper limb segmental anomalies Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Movement disorder - Myoclonus / fasciculations		Very frequent - Broad alveolar ridge - Broad nasal root - Cleft lip - Cleft / notched / bifid tongue - Face / facial anomalies - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypertelorism - Oral synechiae / abnormal frenulae - X-linked dominant inheritance Frequent - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Ataxia / incoordination / trouble of the equilibrium - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Intellectual deficit / mental / psychomotor retardation / learning disability - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Polydactyly of toes - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Skull / cranial anomalies - Small / triangular nares / nostrils - Syndactyly of fingers / interdigital palm - Thin / hypoplastic ala nasi - Upper limb polydactyly / hexadactyly Occasional - Abnormal hepatic enzymes / transaminases - Alopecia - Anomalies of bones / skeletal anomalies - Arterial aneurism (excluding aorta) - Brittle hair / distrix / trichorrhexis - Choanal atresia - Chronic arterial hypertension - Chronic / relapsing otitis - Coarse / thick hair - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Dental cysts / tumors - Dental malocclusion - Dry / squaly skin / exfoliation - Dystonia / torticollis / writer's cramp / blepharospasms - Enamel anomaly - Epicanthic folds - Flat cheek bones / malar hypoplasia - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lip pits / fistulae - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Multicystic kidney / renal dysplasia - Pancreatic failure / exocrine pancreas disease - Polycystic liver disease / hepatic cysts - Postaxial polydactyly (hand) - Preaxial polydactyly (hand) - Proteinuria - Renal failure - Short hand / brachydactyly - Stillbirth / neonatal death - Structural anomalies of the pancreas - Tarsal anomaly / fusion / synostosis - Telecanthus / canthal dystopy