ODCs

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6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Split hand-split foot malformation

Hereditary sensory and autonomic neuropathy with spastic paraplegia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBXW4	(0.63)	CCT5

Citations in the biomedical literature:

Split hand-split foot malformation		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): - HSAN with spastic paraplegia

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

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

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

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


COMMON SIGNS	- Autosomal recessive inheritance

Split hand-split foot malformation		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance		Very frequent - Abnormal gait - Auto-aggressivity / auto-mutilation - Chronic skin infection / ulcerations / ulcers / cancrum - Dysautonomia / autonomous nervous sytem anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Insensitivity to pain - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Peripheral neuropathy Frequent - Nerve conduction abnormality Occasional - Osteomyelitis / osteitis / periostitis / spondylodisciitis