01
BRD4
No data
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 23
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Cornelia De Lange Syndrome 1
- Standard Disease Name
- cornelia de lange syndrome 1
- MeSH Tree
- No data
- ICD-10
- Q87.1
Identifiers
- DO ID
- No data
- MeSH ID
- D003635
- OMIM ID
- 122470|122470|614|300882|610759|300590
- UMLS ID
- C0270972
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.|MSH2017_2016_08_12:A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)|JABL99:A frequent multiple congenital anomaly/mental retardation syndrome of unknown etiology which affects 1/10,000 newborn infants. The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional Sandifer anomaly (abnormal body posturing, torticollis, and gastro-esophageal reflux with or without a hiatus hernia). The phenotype is variable and the affected infants may show different clusters of abnormalities. A proposed classification identifies three distinct categories of this syndrome: Type I (classic) is marked by prenatal growth deficiency becoming more severe after birth, moderate to profound psychomotor retardation, and severe malformations usually leading to disability or death; Type II (mild) is characterized by facial and skeletal abnormalities which are similar to those in Type I but are much less severe, moderate pre- and postnatal growth retardation, and the absence of major malformations; and Type III in which phenotypic manifestations are related to chromosomal aneuploidies or teratogenic factors. The syndrome was first observed in Amsterdam, hence its synonyms Amsterdam dwarf, Amsterdam type, and typus amstelodamensis. Manifestations of duplication of the long arm of chromosome 3 are similar to those in de Lange syndrome. Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de Lange syndrome, while craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q). Most de Lange syndrome patients have normal chromosomes.