Congenital cataracts, facial dysmorphism, and neuropathy

Preferred Label : Congenital cataracts, facial dysmorphism, and neuropathy;

Symbol : CCFDN;

CISMeF acronym : CCFDN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, congenital, with facial dysmorphism and neuropathy;

Description : Congenital cataracts, facial dysmorphism, and neuropathy is an autosomal recessive disorder that is prevalent among Bulgarian Gypsies. Additional features include delayed psychomotor development, skeletal anomalies, and hypogonadism. The predominantly motor neuropathy becomes evident during childhood and progresses to severe disability by the third decade (Tournev et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the subunit 1 phosphatase of the C-terminal domain of RNA polymerase II subunit A gene (CTDP1, 604927.0001);

Prefixed ID : #604168;

Details

Origin ID

604168;

UMLS CUI

C1858726;

Currated CISMeF NLP mapping
- Congenital cataracts - facial dysmorphism - neuropathy [ICD-11 More detail]
- Congenital cataracts, facial dysmorphism and neuropathy (disorder) [SNOMED CT concept]
- Congenital cataracts-facial dysmorphism-neuropathy syndrome [ORDO Disease]
- congenital cataracts, facial dysmorphism, and neuropathy [MeSH concept]
- congenital cataracts, facial dysmorphism, and neuropathy [MeSH Supplementary Concept]
Genes related to phenotype
- C-terminal domain of rna polymerase II subunit a, phosphatase of, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the dentition [HPO term]
- Acute rhabdomyolysis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Babinski sign [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Cognitive impairment [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased serum estradiol [HPO term]
- Decreased testicular size [HPO term]
- Demyelination [HPO term]
- Developmental cataract [HPO term]
- Genu recurvatum [HPO term]
- Global developmental delay [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Malar prominence [HPO term]
- Microcornea [HPO term]
- Motor delay [HPO term]
- Motor polyneuropathy [HPO term]
- Nystagmus [HPO term]
- Peripheral axonal degeneration [HPO term]
- Peripheral demyelination [HPO term]
- Peripheral hypomyelination [HPO term]
- Pes cavus [HPO term]
- Primary amenorrhea [HPO term]
- Prominent midface [HPO term]
- Short stature [HPO term]
- Split hand [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Congenital cataracts-facial dysmorphism-neuropathy syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital cataracts, facial dysmorphism and neuropathy (disorder) [SNOMED CT concept]
- Congenital cataracts-facial dysmorphism-neuropathy syndrome [ORDO Disease]
- congenital cataracts, facial dysmorphism, and neuropathy [MeSH Supplementary Concept]
- congenital cataracts, facial dysmorphism, and neuropathy [MeSH concept]

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