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Metachondromatosis
1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Stüve-Wiedemann syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
Metachondromatosis
Stüve-Wiedemann syndrome

PTPN11
(UniProt - OMIM)
 LIFR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTPN11
(0.55)
LIFR


Citations in the biomedical literature:


Metachondromatosis
PTPN11
Stüve-Wiedemann syndrome
LIFR



Metachondromatosis
Stüve-Wiedemann syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Stüve-Wiedemann dysplasia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537502
COMMON
SIGNS 		- Metaphyseal anomaly

Metachondromatosis
Stüve-Wiedemann syndrome

Very frequent
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications



Very frequent
- Anomalies of eyes and vision
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Cortical anomaly / thick bone cortical layer
- Dysautonomia / autonomous nervous sytem anomalies
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Early death / lethality
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperhidrosis / increased sweating
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Anomalies of tongue, gingiva and oral mucosa
- Apnea / sleep apnea
- Asthma / bronchospasm
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Defect / anomaly of lacrimal system
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Genu valgum
- Insensitivity to pain
- Intrauterine growth retardation
- Mutiple fractures / bone fragility
- Oligoamnios
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Talipes-varus / metatarsal varus

Occasional
- Anomalies of teeth and dentition
- Areflexia / hyporeflexia
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Hypothyroidy
- Hypotonia
- Sacral sinus / dimple