Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
6 OMIM references -
5 associated genes
9 signs/symptoms
Linear nevus sebaceus syndrome
Split hand-split foot malformation

HRAS BTRC
KRAS FBXW4
SHFM1
TP63
WNT10B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
KRAS
(0.68)
(0.63)
BTRC
BTRC



Citations in the biomedical literature:


Linear nevus sebaceus syndrome
HRAS KRAS
Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B



Linear nevus sebaceus syndrome
Split hand-split foot malformation

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

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Linear nevus sebaceus syndrome
Split hand-split foot malformation

Very frequent
- Adenoma sebaceum
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Areflexia / hyporeflexia
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- 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


Very frequent
- Oligodactyly / ectrodactyly of fingers

Frequent
- Syndactyly of fingers / interdigital palm

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance