Alpha-thalassemia/impaired intellectual development syndrome, X-linked

Preferred Label : Alpha-thalassemia/impaired intellectual development syndrome, X-linked;

Symbol : ATRX;

CISMeF acronym : ATRX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atr, nondeletion type; Alpha-thalassemia/mental retardation syndrome, nondeletion type; Atr-X syndrome; Alpha-thalassemia/mental retardation syndrome, X-linked;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ATR-X gene (ATRX, 300032.0001);

Laboratory abnormalities : Hb H erythrocyte inclusions;

Prefixed ID : #301040;

Details

Origin ID

301040;

UMLS CUI

C1845055;

Automatic exact mappings (from CISMeF team)
- ATRX Gene [NCIt concept]
- ATRX chromatin remodeler [HGNC gene]
- ATRX chromatin remodeler [ORDO Gene]
- ATRX gene [LOINC component]
- ATRX syndrome [MedDRA LLT]
- Transcriptional Regulator ATRX [NCIt concept]
Currated CISMeF NLP mapping
- ATR-X syndrome [PASCAL descriptor]
- ATR-X syndrome [MeSH concept]
- ATR-X syndrome [MeSH Supplementary Concept]
- Alpha Thalassemia X-Linked Mental Retardation Syndrome [NCIt concept]
- Alpha thalassaemia - X-linked intellectual deficit [ICD-11 More detail]
- Alpha thalassemia X-linked intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]
DO Cross reference
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]
Genes related to phenotype
- Atrx chromatin remodeler [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Absent frontal sinuses [HPO term]
- Anteverted nares [HPO term]
- Cerebral atrophy [HPO term]
- Clinodactyly [HPO term]
- Constipation [HPO term]
- Coxa valga [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Full lips [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- HbH hemoglobin [HPO term]
- Hemivertebrae [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Hypospadias [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Low nasal bridge [HPO term]
- Low-set ears [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Perimembranous ventricular septal defect [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Protruding tongue [HPO term]
- Radial deviation of finger [HPO term]
- Reduced alpha/beta synthesis ratio [HPO term]
- Renal agenesis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shawl scrotum [HPO term]
- Short nose [HPO term]
- Small triangular nose [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Thick lower lip vermilion [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
- X-linked dominant inheritance [HPO term]
- mild hypochromic microcytic anemia [HPO term]
ORDO concept(s)
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATR-X syndrome [MeSH Supplementary Concept]
- ATR-X syndrome [MeSH concept]
- ATR-X syndrome [PASCAL descriptor]
- ATRX syndrome [MedDRA LLT]
- Alpha Thalassemia X-Linked Mental Retardation Syndrome [NCIt concept]
- Alpha thalassaemia - X-linked intellectual deficit [ICD-11 More detail]
- Alpha thalassaemia X-linked intellectual disability syndrome [MedDRA LLT]
- Alpha thalassemia X-linked intellectual disability syndrome [MedDRA LLT]
- Alpha thalassemia X-linked intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]

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