ODCs

Click node...

Hypotrichosis - lymphedema - telangiectasia

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

Atypical Rett syndrome

3 OMIM references -
4 associated genes
24 signs/symptoms

Hypotrichosis - lymphedema - telangiectasia

Atypical Rett syndrome

SOX18	(UniProt - OMIM)	CDKL5	(UniProt - OMIM)
		FOXG1	(UniProt - OMIM)
		MECP2	(UniProt - OMIM)
		NTNG1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX18	(0.63)	MECP2

Citations in the biomedical literature:

Hypotrichosis - lymphedema - telangiectasia		Atypical Rett syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Atypical RTT - Rett syndrome variant

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

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

Hypotrichosis - lymphedema - telangiectasia		Atypical Rett syndrome
	Very frequent - Absent / decreased / thin eyebrows - Alopecia - Decreased body hair / axillar / pubic hairlessness - Edema of the legs / lower limbs - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lymphangioma / lymphatic malformations - Lymphedema - Telangiectasiae of the skin Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Cutis marmorata / marbled skin / livedo - Follicular / erythematous / edematous papules / milium - Palpebral edema / periorbital edema - Vaginal hydrocele / hematocele / pyocele / lymphocele / varicocele - Varices / varicous veins / venous insufficiency Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Hydrops fetalis - Structural anomaly of the peritoneum		Very frequent - Anomalies of ear and hearing - Antitragus abnormal - Camptodactyly of some fingers - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clinodactyly of fifth finger - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Dysplastic / thick / grooved fingernails - EEG anomalies - Fine hair - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hearing loss / hypoacusia / deafness - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large / bulbous nose - Macrostomia / big mouth - Metacarpal anomalies / Archibald's sign - Microcephaly - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Thick lips - Thin / hypoplastic ala nasi - Urinary / renal lithiasis / kidney stones / nephritic colic