ODCs

Click node...

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Ulnar-mammary syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Ulnar-mammary syndrome

HDAC6

(UniProt - OMIM)

TBX3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.63)	TBX3

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Ulnar-mammary syndrome
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - Schinzel syndrome - UMS - Ulnar-mammary syndrome of Pallister

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536937


COMMON SIGNS	- Metacarpal anomalies / Archibald's sign - Short stature / dwarfism / nanism

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Ulnar-mammary syndrome
	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 - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - 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 - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Oligodactyly / ectrodactyly of fingers - Thin / hypoplastic / hyperconvex fingernails - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Frequent - Generalized obesity - Hypoplastic / absent nipples - Late puberty / hypogonadism / hypogenitalism - Micropenis / small penis / agenesis - Sterility / hypofertility - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies - Wrist / carpal anomalies Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent pectoral muscles - Agenesis / hypoplasia / aplasia of kidneys - Anodontia / oligodontia / hypodontia - Anus ectopia / anteposition / malposition - Breast tissue / mammary gland absence / aplasia - Camptodactyly of some fingers - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Clavicle absent / abnormal - Gastric / pyloric stenosis - Hand agenesis / absence - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Inguinal / inguinoscrotal / crural hernia - Laryngomalacia - Pectus carinatum - Postaxial polydactyly (hand) - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Terminal / third phalangeal bone of fingers hypoplasia - Thin / hypoplastic toenails - Ventricular septal defect / interventricular communication