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GENATLAS PHENOTYPE
last update : 22-05-2013
Symbol PAMD
Location 15q24.1
Name pulmonary agenesis, microphthalmia, and diaphragmatic defect
Other name(s)
  • Matthew-Wood syndrome
  • microphthalmia syndromic 9
    • Corresponding gene STRA6
    Other symbol(s) MCOPS9, MWS, PDAC, PMD
    Main clinical features
  • bilateral anophthalmia and pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, mild facial dysmorphism, with marked blepharophimosis, unusual trichoglyphic pattern of the eyebrows, which were broad, flaring, and only upward growing, broad nasal bridge, micrognathia, and large, low-set ears
  • intrauterine growth retardation
    • Genetic determination autosomal recessive
    Related entries including isolated colobomatous microanophthalmia (PMID:21901792)
    Function/system disorder respiratory
    eye
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion   truncated protein homozygous insertion/deletion in exon 2 or a homozygous insertion in exon 7 predicting a premature stop codon
    Remark(s)
  • STRA6 mutations can cause isolated eye malformations in addition to the congenital anomalies observed in PMD (PMID; 21901792))
    • Genotype/Phenotype correlations missense mutations may be associated with early lethality due to respiratory insufficiency, whereas truncating mutation may be compatible with long-term survival and normal lung function