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Hypotrichosis - lymphedema - telangiectasia
1 OMIM reference -
1 associated gene
18 signs/symptoms
PROTEIN INTERACTIONS: 1
Rett syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
Hypotrichosis - lymphedema - telangiectasia
Rett syndrome

SOX18
(UniProt - OMIM)
 MECP2
(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
SOX18
Rett syndrome
MECP2



Hypotrichosis - lymphedema - telangiectasia
Rett syndrome

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):
- Mental and behavioural disorders -
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: adult
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015518
Hypotrichosis - lymphedema - telangiectasia
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
- EEG anomalies
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Movement disorder
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skull / cranial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias
- X-linked dominant inheritance

Frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Autism / autistic disoders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Metacarpal anomalies / Archibald's sign
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arnold-Chiari anomaly
- Arthrogryposis
- Auto-aggressivity / auto-mutilation
- Cardiac rhythm disorder / arrhythmia
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Psychic / psychomotor regression / dementia / intellectual decline
- Restricted joint mobility / joint stiffness / ankylosis
- Small foot