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X-linked dominant chondrodysplasia, Chassaing-Lacombe type
1 OMIM reference -
1 associated gene
102 connected diseases
26 signs/symptoms
Disease Type of connection
Amyotrophic lateral sclerosis
Acute promyelocytic leukemia
Congenital fibrosis of extraocular muscles
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Giant cell glioblastoma
Gliosarcoma
Familial cylindromatosis
Familial multiple trichoepithelioma
Lissencephaly due to TUBA1A mutation
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Microphthalmia, Lenz type
Oculofaciocardiodental syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Kufor-Rakeb syndrome
Parkinsonim due to ATP13A2 deficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Polymicrogyria due to TUBB2B mutation
Frontotemporal dementia with motor neuron disease
Acute megakaryoblastic leukemia without Down syndrome
Chronic myelomonocytic leukemia
Congenital mesoblastic nephroma
Fibrosarcoma
Leber congenital amaurosis
Lethal congenital contracture syndrome type 2
Mosaic variegated aneuploidy syndrome
Papillary or follicular thyroid carcinoma
Precursor B-cell acute lymphoblastic leukemia
Senior-Loken syndrome
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Classical progressive supranuclear palsy
Distal 22q11.2 microdeletion syndrome
Glucocorticoid resistance
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
B-cell chronic lymphocytic leukemia
Bardet-Biedl syndrome
Benign adult familial myoclonic epilepsy
Cerebellar ataxia - hypogonadism
Charcot-Marie-Tooth disease type 2B2
Combined cervical dystonia
Congenital dyserythropoietic anemia type II
Congenital myopathy, Paradas type
Congenital stationary night blindness
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Distal hereditary motor neuropathy type 2
Distal myopathy with anterior tibial onset
Familial isolated dilated cardiomyopathy
Fructose-1,6-bisphosphatase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hypomyelination with atrophy of basal ganglia and cerebellum
Intrahepatic cholestasis of pregnancy
Mantle cell lymphoma
Miyoshi myopathy
Muscular dystrophy, Selcen type
Polymicrogyria with optic nerve hypoplasia
Primary dystonia, DYT4 type
Pyogenic bacterial infections due to MyD88 deficiency
Seckel syndrome
Ulnar-mammary syndrome
Waldenström macroglobulinemia
Adult-onset distal myopathy due to VCP mutation
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Multiple endocrine neoplasia type 1
Adult hepatocellular carcinoma
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Distal hereditary motor neuropathy type 7
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Hepatocellular carcinoma, childhood-onset
Perry syndrome
Pilomatrixoma
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Synonym(s):
- X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HDAC6 Q9UBN7300272
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