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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
31 signs/symptoms
Autosomal dominant spastic paraplegia type 13
Linear nevus sebaceus syndrome

HSPD1 HRAS
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.49)
KRAS



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Linear nevus sebaceus syndrome
HRAS KRAS



Autosomal dominant spastic paraplegia type 13
Linear nevus sebaceus syndrome

Synonym(s):
- SPG13

Synonym(s):
- Nevus sebaceus of Jadassohn
- Nevus sebaceus syndrome
- Organoid nevus syndrome
- Schimmelpenning syndrome
- Solomon syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
1 OMIM reference -
No MeSH references

Linear nevus sebaceus syndrome

Very frequent
- Adenoma sebaceum
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Areflexia / hyporeflexia
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Autosomal dominant inheritance
- Cavernous / tuberous hemangioma
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Coloboma of iris
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Frontal bossing / prominent forehead
- Genu recurvatum
- Hypereflexia
- Hypotonia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Narrow forehead
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent occiput / occipital bossing
- Seizures / epilepsy / absences / spasms / status epilepticus
- Telecanthus / canthal dystopy
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Anomalies of eyes and vision
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Irregular / in bands / reticular skin hyperpigmentation
- Plagiocephaly
- Porencephaly

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intracranial / cerebral calcifications


Autosomal dominant spastic paraplegia type 13

(no data available)