ODCs

Click node...

Ankyloblepharon - ectodermal defects - cleft lip/palate

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Juvenile amyotrophic lateral sclerosis

3 OMIM references -
4 associated genes
12 signs/symptoms

Ankyloblepharon - ectodermal defects - cleft lip/palate

Juvenile amyotrophic lateral sclerosis

TP63	(UniProt - OMIM)	ALS2	(UniProt - OMIM)
		FUS	(UniProt - OMIM)
		SIGMAR1	(UniProt - OMIM)
		SPG11	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.76)	FUS

Citations in the biomedical literature:

Ankyloblepharon - ectodermal defects - cleft lip/palate		Juvenile amyotrophic lateral sclerosis
	Synonym(s): - AEC syndrome - Hay-Wells syndrome		Synonym(s): - JALS - Juvenile Charcot disease - Juvenile Lou Gehrig disease

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Ankyloblepharon - ectodermal defects - cleft lip/palate		Juvenile amyotrophic lateral sclerosis
	Very frequent - Autosomal dominant inheritance - Broad nose / nasal bridge - Coarse / thick hair - Cryptophthalmia / ankyloblepharon / synblepharon - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lateral cleft lip / gingival cleft / paramedian nasal cleft Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / decreased lashes - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Diffuse / generalised skin hyperpigmentation / melanoderma - Enamel anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Palmoplantar hyperkeratosis / keratoderma - Tooth shape anomaly Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Clinodactyly of fifth finger - Conductive deafness / hearing loss - Defect / anomaly of lacrimal system - Delayed dentition / eruption of teeth / lack of eruption of teeth - Prominent / bat ears - Supernumerary nipples / polythelia - Syndactyly of fingers / interdigital palm - Ventricular septal defect / interventricular communication		Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Elocution disorders / dysarthria / dysphonia - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Pyramidal syndrome Frequent - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pseudobulbar signs / spasmodic laugh and cry Occasional - Bladder and ureter anomalies - Sensitive trouble / deficit