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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
38 signs/symptoms
Severe congenital nemaline myopathy
Wilson-Turner syndrome

ACTA1 HDAC8
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.63)
HDAC8



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Wilson-Turner syndrome
HDAC8



Severe congenital nemaline myopathy
Wilson-Turner syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- X-linked intellectual deficit - gynecomastia - obesity

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant

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

Wilson-Turner syndrome

Very frequent
- Generalized obesity

Frequent
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal gait
- Anodontia / oligodontia / hypodontia
- Arthritis / synovitis / synovial proliferation
- Ataxia / incoordination / trouble of the equilibrium
- Brachycephaly / flat occiput
- Coarse face
- Hirsutism / hypertrichosis / Increased body hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular length / shape of fingers
- Long / large ear
- Lymphedema
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Micropenis / small penis / agenesis
- Microstomia / little mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pointed chin
- Preauricular / branchial tags / appendages
- Prognathism / prognathia
- Protruding lips
- Round ear
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Small hand / acromicria
- Small / hypoplastic / adherent / absent ear lobe
- Spindle shaped fingers
- Striae
- Synophris / synophrys
- Tapered fingers
- Thick / bushy eyebrows
- Thick / wide ear lobe
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Severe congenital nemaline myopathy

(no data available)