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X-linked dominant chondrodysplasia, Chassaing-Lacombe type
1 OMIM reference -
1 associated gene
26 signs/symptoms
PROTEIN INTERACTIONS: 1
Waldenström macroglobulinemia
2 OMIM references -
1 associated gene
44 signs/symptoms
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Waldenström macroglobulinemia

HDAC6
(UniProt - OMIM)
 MYD88
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HDAC6
(0.63)
MYD88


Citations in the biomedical literature:


X-linked dominant chondrodysplasia, Chassaing-Lacombe type
HDAC6
Waldenström macroglobulinemia
MYD88



X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Waldenström macroglobulinemia

Synonym(s):
- X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia
Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008258
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Waldenström macroglobulinemia

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flattened nose
- Frontal bossing / prominent forehead
- Hydrocephaly
- Low set ears / posteriorly rotated ears
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Rhizomelic micromelia
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- X-linked dominant inheritance

Frequent
- Ankle anomalies
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Death in infancy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Rib structure anomalies

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short philtrum


Very frequent
- Bone marrow / medullar infiltration
- Hematologic / blood / lymphatic cancer
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Myeloproliferative syndrome / chronic leukemia

Frequent
- Blood hyperviscosity / hypercoagulability
- Dizziness
- Gingivorrhagia / gingival bleeding
- Normocytic anemia
- Pallor
- Polynuclear cells / neutrophils anomalies / neutropenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Anorexia
- Asthenia / fatigue / weakness
- Ataxia / incoordination / trouble of the equilibrium
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cranial nerves palsy
- Cryoglobulinemia
- Cutis marmorata / marbled skin / livedo
- Edema of the legs / lower limbs
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hearing loss / hypoacusia / deafness
- Heart / cardiac failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung / pulmonary infiltrates
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Palpebral edema / periorbital edema
- Peripheral neuropathy
- Proptosis / exophthalmos
- Purpura / petichiae
- Renal failure
- Retinal vascular anomalies / retinal telangiectasia
- Splenomegaly
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Urticaria
- Vascularitis / vasculitides / arteritis