Alpha-thalassemia/impaired intellectual development syndrome, deletion type

Preferred Label : Alpha-thalassemia/impaired intellectual development syndrome, deletion type;

CISMeF acronym : HBHR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atr, deletion-type; HBHR; Hemoglobin h-related mental retardation; Alpha-thalassemia/mental retardation syndrome, deletion-type; Mental retardation with hemoglobin h; Atr-16 syndrome; Chromosome 16p deletion syndrome; Alpha-thalassemia/mental retardation syndrome, chromosome 16-related;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene syndrome caused by deletion of the alpha-1 hemoglobin (141800) and alpha-2 hemoglobin (141850) genes;

Laboratory abnormalities : Subtelomeric deletion of chromosome 16p; Normal serum ferritin;

Prefixed ID : #141750;

Détails

Origin ID

141750;

UMLS CUI

C0795917;

Automatic exact mappings (from CISMeF team)
- alpha thalassemia-intellectual disability syndrome type 1 [DO Concept]
Currated CISMeF NLP mapping
- Alpha thalassaemia - intellectual deficit syndrome [ICD-11 More detail]
- Alpha-Thalassemia mental retardation syndrome, Deletion-Type [MeSH Supplementary Concept]
- Alpha-Thalassemia mental retardation syndrome, Deletion-Type [MeSH concept]
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) [SNOMED CT concept]
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [ORDO Disease]
DO Cross reference
- alpha thalassemia-intellectual disability syndrome type 1 [DO Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Asymmetry of the thorax [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad and flat forehead [HPO term]
- Broad forehead [HPO term]
- Clinodactyly [HPO term]
- Contiguous gene syndrome [HPO term]
- Cryptorchidism [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flat forehead [HPO term]
- Flat, broad nasal bridge [HPO term]
- HbH hemoglobin [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Obesity [HPO term]
- Patent ductus arteriosus [HPO term]
- Protruding tongue [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Reduced alpha/beta synthesis ratio [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Supernumerary nipple [HPO term]
- Talipes equinovarus [HPO term]
- Triangular nasal tip [HPO term]
- Webbed neck [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Abnormal circulating ferritin concentration [HPO term]
ORDO concept(s)
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATR 16 syndrome [MedDRA LLT]
- Alpha-Thalassemia mental retardation syndrome, Deletion-Type [MeSH Supplementary Concept]
- Alpha-Thalassemia mental retardation syndrome, Deletion-Type [MeSH concept]
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) [SNOMED CT concept]
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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