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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
20 signs/symptoms
Charcot-Marie-Tooth disease type 4D
Perrault syndrome

NDRG1 CLPP
HARS2
HSD17B4
LARS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NDRG1
(0.73)
HSD17B4



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 4D
NDRG1
Perrault syndrome
CLPP HARS2 HSD17B4 LARS2



Charcot-Marie-Tooth disease type 4D
Perrault syndrome

Synonym(s):
- CMT4D
- HMSN, Lom type
- Hereditary motor and sensory neuropathy, Lom type

Synonym(s):
- XX gonodal dysgenesis - deafness

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare otorhinolaryngologic disease
- Rare urogenital 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: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535716
External references:
4 OMIM references -
No MeSH references

Perrault syndrome

Very frequent
- Abnormal / polycystic ovaries
- Autosomal recessive inheritance
- Late puberty / hypogonadism / hypogenitalism
- Primary amenorrhea
- Sensorineural deafness / hearing loss
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Short stature / dwarfism / nanism

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nerve conduction abnormality
- Nystagmus
- Oculomotor apraxia / dyspraxia
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Peripheral neuropathy
- Precocious menopause / secondary amenorrhea
- Ptosis
- Scoliosis


Charcot-Marie-Tooth disease type 4D

(no data available)