Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

A syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.



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Narrow down the case reports



Total: 3 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 17598130
 Refinement of the genetic cause of ATR-16.
Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC.
Hum Genet. 2007;122(3-4):283-92.
Hypochromic anemia
Adult Base Sequence Child Child, Preschool Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 16 DNA Probes Females Globin Homo sapiens Intellectual Disability Male Multigene Family Syndrome alpha-Thalassemia
1
(4.0%)		 15971642
 [Alpha-thalassemias and bipolar disorders: a genetic link?].
Damsa C, Borras L, Bianchi-Demicheli F, Andreoli A.
Encephale. 2005;31(1 Pt 1):72-5.
Cataract
Adult Bipolar Disorder Chromosomes, Human, Pair 16 Diagnostic and Statistical Manual of Mental Disord... Females Homo sapiens alpha-Thalassemia
1
(4.0%)		 11157797
 Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR.
Hum Mol Genet. 2001;10(4):339-52.
Cataract
BAIAP3 HBA1 PDIA2
Animals Asthma Base Composition Bipolar Disorder Child Child, Preschool Chromosomes, Human, Pair 16 CpG Islands Epilepsy Females Homo sapiens Intellectual Disability Male Monosomy Mus Phenotype Physical Chromosome Mapping Polycystic Kidney, Autosomal Dominant Recombination, Genetic Sequence Analysis, DNA Syndrome Tuberous Sclerosis alpha-Thalassemia
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001935 Microcytic anemia Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0011903 HbH hemoglobin Very frequent (99-80%)
HP:0012378 Fatigue Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000768 Pectus carinatum Frequent (79-30%)
HP:0000978 Bruising susceptibility Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0001831 Short toe Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Frequent (79-30%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0001371 Flexion contracture Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0009891 Underdeveloped supraorbital ridges Occasional (29-5%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000518 Cataract 2
HP:0002099 Asthma 2
HP:0000717 Autism 1
HP:0001931 Hypochromic anemia 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
HBA2 hemoglobin subunit alpha 2 3040
HBA1 hemoglobin subunit alpha 1 3039