Hypoparathyroidism-retardation-dysmorphism syndrome

Preferred Label : Hypoparathyroidism-retardation-dysmorphism syndrome;

Symbol : HRDS;

CISMeF acronym : HRDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sanjad-sakati syndrome; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay; Hypoparathyroidism with short stature, mental retardation, and seizures;

Inheritance : Autosomal recessive;

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

Laboratory abnormalities : Hypocalcemia; Hyperphosphatemia;

Prefixed ID : #241410;

Details

Origin ID

241410;

UMLS CUI

C1855840;

Currated CISMeF NLP mapping
- Hypoparathyroidism-Retardation-Dysmorphism Syndrome [NCIt concept]
- Hypoparathyroidism-retardation-dysmorphism syndrome [MeSH concept]
- Sanjad Sakati syndrome (disorder) [SNOMED CT concept]
- Sanjad-Sakati syndrome [ORDO Disease]
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]
- hypoparathyroidism-retardation-dysmorphism syndrome [MeSH Supplementary Concept]
DO Cross reference
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]
Genes related to phenotype
- Tubulin-specific chaperone e [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Congenital hypoparathyroidism [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deeply set eye [HPO term]
- Delayed myelination [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hyperphosphatemia [HPO term]
- Hypocalcemia [HPO term]
- Hypocalcemic seizures [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Mild-moderate ventricular dilatation [HPO term]
- Patchy osteosclerosis [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent forehead [HPO term]
- Recurrent bacterial infections [HPO term]
- Seizure [HPO term]
- Severe intrauterine growth retardation [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Tetany [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Sanjad-Sakati syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoparathyroidism-Retardation-Dysmorphism Syndrome [NCIt concept]
- Hypoparathyroidism-retardation-dysmorphism syndrome [MeSH concept]
- Sanjad Sakati syndrome (disorder) [SNOMED CT concept]
- Sanjad-Sakati syndrome [ORDO Disease]
- hypoparathyroidism-retardation-dysmorphism syndrome [MeSH Supplementary Concept]
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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