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GENATLAS PHENOTYPE

last update : 28-01-2020

Symbol	PAPPAS
Location	17q23.2
Name	posterior amelia with pelvis and pulmonary hypoplasia syndrome
Corresponding gene	TBX4
Main clinical features	absent hindlimbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect; ambiguous genitalia have also been observed caudal regression with complete posterior amelia and pelvic aplasia
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	respiratory
Type	disease

Remark(s)

heterozygous TBX4 mutations are responsible for PTLAH, when homozygously inherited, the same alleles lead to lethal PAPPAS characterized by caudal regression with complete posterior amelia and pelvic aplasia (PMID: 31761294))