Kenny-caffey syndrome, type 1

Preferred Label : Kenny-caffey syndrome, type 1;

Symbol : KCS1;

CISMeF acronym : KCS; KCS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kenny-caffey syndrome, autosomal recessive; KCS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the tubulin-specific chaperone E gene (TBCE, 604934.0001);

Laboratory abnormalities : Hypocalcemia; Low to low-normal magnesium;

Prefixed ID : #244460;

Details

Origin ID

244460;

UMLS CUI

C1855648;

Automatic exact mappings (from CISMeF team)
- CALCA wt Allele [NCIt concept]
- Kenny-Caffey syndrome, autosomal recessive [ICD-11 More detail]
- TBCE wt Allele [NCIt concept]
- keratoconjunctivitis sicca [DO Concept]
- tubulin folding cofactor E [ORDO Gene]
- tubulin folding cofactor E [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive Kenny-Caffey syndrome [ORDO Disease]
- Kenny Caffey syndrome [Disease (Nov.)]
- Kenny-Caffey Syndrome Type 1 [NCIt concept]
- Kenny-Caffey syndrome type 1 [DO Concept]
- Kenny-Caffey syndrome, Type 1 [MeSH concept]
- Kenny-Caffey syndrome, type 1 [MeSH Supplementary Concept]
DO Cross reference
- Kenny-Caffey syndrome type 1 [DO Concept]
Genes related to phenotype
- Tubulin-specific chaperone e [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Calvarial osteosclerosis [HPO term]
- Carious teeth [HPO term]
- Congenital hypoparathyroidism [HPO term]
- Decreased skull ossification [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Delayed skeletal maturation [HPO term]
- Hypertelorism [HPO term]
- Hypocalcemia [HPO term]
- Hypomagnesemia [HPO term]
- Intrauterine growth retardation [HPO term]
- Long clavicles [HPO term]
- Neonatal hypoparathyroidism [HPO term]
- Proportionate short stature [HPO term]
- Recurrent bacterial infections [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
- Slender long bone [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Tetany [HPO term]
- Thin clavicles [HPO term]
- Thin ribs [HPO term]
ORDO concept(s)
- Autosomal recessive Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey Syndrome Type 1 [NCIt concept]
- Kenny-Caffey syndrome, Type 1 [MeSH concept]
- Kenny-Caffey syndrome, type 1 [MeSH Supplementary Concept]

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