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Hereditary neuropathy with liability to pressure palsies

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

Hereditary neuropathy with liability to pressure palsies

Boomerang dysplasia

PMP22

(UniProt - OMIM)

FLNB

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PMP22	(0.63)	FLNB

Citations in the biomedical literature:

Hereditary neuropathy with liability to pressure palsies		Boomerang dysplasia
	Synonym(s): - Current pressure-sensitive neuropathy - HNPP - Heterozygous microdeletion 17p11.2p12 - Potato-grubbing palsy - Tomaculous neuropathy - Tulip-bulb digger's palsy		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536573

Hereditary neuropathy with liability to pressure palsies		Boomerang dysplasia
	Very frequent - Autosomal dominant inheritance - Insterstitial / subtelomeric microdeletion / deletion - Nerve conduction abnormality - Peripheral neuropathy Frequent - Motor deficit / trouble - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Scoliosis Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Areflexia / hyporeflexia - Cranial nerves palsy - Flat palm - Pes cavus - Respiratory distress / dyspnea / respiratory failure / lung volume reduction		Very frequent - Abnormal / absent ossification - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Lack / delayed ossification of spine / vertebrae - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rhizomelic micromelia - Short stature / dwarfism / nanism - Stillbirth / neonatal death - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Absent / hypotonic / flaccid abdominal wall muscles - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Metacarpal anomalies / Archibald's sign - Omphalocele / exomphalos - Polyhydramnios - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray