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Thymic hypoplasia

DA: 45

Developmental anomaly information

Definition: Thymic hypoplasia is an ectodermal/thymic defects found to be a paucity of ectodermal elements in the developing thymus, and the immune defects were largely secondary to this event. Thymic hypoplasia commonly seen in DiGeorge syndrome (chromosome 22q11.2 deletion syndrome) which include congenital cardiac anomalies, craniofacial dysmorphology, and learning dysfunction, all of which were traced to a defect in the third and fourth pharyngeal pouches during embryogenesis.


  • Hypoplastic thymus

Developmental anomaly parent: (empty)

Topology: (empty)

System: lymphoid system

Developmental anomaly category: Anomaly of underdevelopment or overdevelopment

Case records MDB109, MDB440, MDB481, MDB483, MDB513, MDB518, MDB326

Humpath: 13351

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Last modified: 2008-12-19 15:08:09 by farideh

Created: 2008-02-22 01:00:00 by phsaw

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